diff --git a/backend/poetry.lock b/backend/poetry.lock
index 3aebca8fe..1a88a6f99 100644
--- a/backend/poetry.lock
+++ b/backend/poetry.lock
@@ -1,4 +1,4 @@
-# This file is automatically @generated by Poetry 1.8.3 and should not be changed by hand.
+# This file is automatically @generated by Poetry 1.8.4 and should not be changed by hand.
[[package]]
name = "airium"
@@ -822,23 +822,6 @@ files = [
{file = "docutils-0.20.1.tar.gz", hash = "sha256:f08a4e276c3a1583a86dce3e34aba3fe04d02bba2dd51ed16106244e8a923e3b"},
]
-[[package]]
-name = "en_core_sci_sm"
-version = "0.5.4"
-description = "Spacy Models for Biomedical Text."
-optional = false
-python-versions = "*"
-files = [
- {file = "en_core_sci_sm-0.5.4.tar.gz", hash = "sha256:a54a114ee11dab7cf6db8cf69ef485145011537f45f3c16c71338c48fd6f070b"},
-]
-
-[package.dependencies]
-spacy = ">=3.7.4,<3.8.0"
-
-[package.source]
-type = "url"
-url = "https://s3-us-west-2.amazonaws.com/ai2-s2-scispacy/releases/v0.5.4/en_core_sci_sm-0.5.4.tar.gz"
-
[[package]]
name = "et-xmlfile"
version = "1.1.0"
@@ -3251,7 +3234,6 @@ description = "A pure Python implementation of the trie data structure."
optional = false
python-versions = "*"
files = [
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]
@@ -3317,7 +3299,6 @@ files = [
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@@ -3773,51 +3754,37 @@ python-versions = ">=3.6"
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{file = "ruamel.yaml.clib-0.2.8.tar.gz", hash = "sha256:beb2e0404003de9a4cab9753a8805a8fe9320ee6673136ed7f04255fe60bb512"},
@@ -4754,20 +4721,39 @@ wsproto = ">=0.14"
[[package]]
name = "typer"
-version = "0.12.5"
+version = "0.7.0"
description = "Typer, build great CLIs. Easy to code. Based on Python type hints."
optional = false
+python-versions = ">=3.6"
+files = [
+ {file = "typer-0.7.0-py3-none-any.whl", hash = "sha256:b5e704f4e48ec263de1c0b3a2387cd405a13767d2f907f44c1a08cbad96f606d"},
+ {file = "typer-0.7.0.tar.gz", hash = "sha256:ff797846578a9f2a201b53442aedeb543319466870fbe1c701eab66dd7681165"},
+]
+
+[package.dependencies]
+click = ">=7.1.1,<9.0.0"
+
+[package.extras]
+all = ["colorama (>=0.4.3,<0.5.0)", "rich (>=10.11.0,<13.0.0)", "shellingham (>=1.3.0,<2.0.0)"]
+dev = ["autoflake (>=1.3.1,<2.0.0)", "flake8 (>=3.8.3,<4.0.0)", "pre-commit (>=2.17.0,<3.0.0)"]
+doc = ["cairosvg (>=2.5.2,<3.0.0)", "mdx-include (>=1.4.1,<2.0.0)", "mkdocs (>=1.1.2,<2.0.0)", "mkdocs-material (>=8.1.4,<9.0.0)", "pillow (>=9.3.0,<10.0.0)"]
+test = ["black (>=22.3.0,<23.0.0)", "coverage (>=6.2,<7.0)", "isort (>=5.0.6,<6.0.0)", "mypy (==0.910)", "pytest (>=4.4.0,<8.0.0)", "pytest-cov (>=2.10.0,<5.0.0)", "pytest-sugar (>=0.9.4,<0.10.0)", "pytest-xdist (>=1.32.0,<4.0.0)", "rich (>=10.11.0,<13.0.0)", "shellingham (>=1.3.0,<2.0.0)"]
+
+[[package]]
+name = "typer-cli"
+version = "0.0.13"
+description = "Run Typer scripts with completion, without having to create a package, using Typer CLI."
+optional = false
python-versions = ">=3.7"
files = [
- {file = "typer-0.12.5-py3-none-any.whl", hash = "sha256:62fe4e471711b147e3365034133904df3e235698399bc4de2b36c8579298d52b"},
- {file = "typer-0.12.5.tar.gz", hash = "sha256:f592f089bedcc8ec1b974125d64851029c3b1af145f04aca64d69410f0c9b722"},
+ {file = "typer_cli-0.0.13-py3-none-any.whl", hash = "sha256:5ae0f99dce8f8f9669137a2c98eb42485cd4412e0ec225c8eb29ce8ac3378731"},
+ {file = "typer_cli-0.0.13.tar.gz", hash = "sha256:f5b85764e56fb3fe835ed008ad5bc7db4961f7bcce1f1c1698ac46b6c5d9b86f"},
]
[package.dependencies]
-click = ">=8.0.0"
-rich = ">=10.11.0"
-shellingham = ">=1.3.0"
-typing-extensions = ">=3.7.4.3"
+colorama = ">=0.4.3,<=0.5.0"
+shellingham = ">=1.3.2,<=1.4.0"
+typer = ">=0.4.0,<=0.7.0"
[[package]]
name = "types-python-dateutil"
@@ -5319,4 +5305,4 @@ testing = ["big-O", "jaraco.functools", "jaraco.itertools", "jaraco.test", "more
[metadata]
lock-version = "2.0"
python-versions = "^3.9"
-content-hash = "2cce2c4f6dc36c8b23aa4a62bc72f03554f3fb69d0e219b388150642bd78575e"
+content-hash = "4e14615eeeeca2a90a68f2a1c46bd73e353634dfdb32700e4af3f35169165016"
diff --git a/backend/pyproject.toml b/backend/pyproject.toml
index 94f842b47..74aaa5433 100644
--- a/backend/pyproject.toml
+++ b/backend/pyproject.toml
@@ -29,13 +29,11 @@ loguru = "*"
pystow = ">=0.5.4"
requests = "^2.31.0"
rich = "*"
-typer = "^0.12.0"
+typer = "^0.7.0"
+typer-cli = "^0.0.13"
beautifulsoup4 = "^4.12.3"
spacy = "^3.7.6"
-[tool.poetry.dependencies.en_core_sci_sm]
-url = "https://s3-us-west-2.amazonaws.com/ai2-s2-scispacy/releases/v0.5.4/en_core_sci_sm-0.5.4.tar.gz"
-
[tool.poetry.group.dev.dependencies]
pytest = "^8.2.0"
mkdocs = ">=1.6.0"
diff --git a/backend/src/monarch_py/api/association.py b/backend/src/monarch_py/api/association.py
index ca203d144..992198037 100644
--- a/backend/src/monarch_py/api/association.py
+++ b/backend/src/monarch_py/api/association.py
@@ -29,9 +29,6 @@ async def _get_associations(
object_taxon: Union[List[str], None] = Query(default=None),
entity: Union[List[str], None] = Query(default=None),
direct: bool = Query(default=False),
- facet_fields: List[str] = Query(default_factory=list),
- facet_queries: List[str] = Query(default_factory=list),
- filter_queries: List[str] = Query(default_factory=list),
compact: bool = Query(default=False),
pagination: PaginationParams = Depends(),
format: OutputFormat = Query(
@@ -55,9 +52,6 @@ async def _get_associations(
object_namespace=object_namespace,
direct=direct,
compact=compact,
- facet_fields=facet_fields,
- facet_queries=facet_queries,
- filter_queries=filter_queries,
offset=pagination.offset,
limit=pagination.limit,
)
diff --git a/backend/src/monarch_py/api/entity.py b/backend/src/monarch_py/api/entity.py
index a6d536933..fb4002c14 100644
--- a/backend/src/monarch_py/api/entity.py
+++ b/backend/src/monarch_py/api/entity.py
@@ -86,17 +86,6 @@ def _association_table(
title="Only return direct associations",
examples=[True, False],
),
- facet_fields: List[str] = Query(
- default=None,
- title="Facet fields to include in the response",
- examples=["subject", "subject_taxon", "predicate"],
- ),
- facet_queries: List[str] = Query(
- default=None, title="Facet queries to include in the response", examples=['subject_category:"biolink:Gene"']
- ),
- filter_queries: List[str] = Query(
- default=None, title="Filter queries to limit the response", examples=['subject_category:"biolink:Gene"']
- ),
) -> Union[AssociationTableResults, str]:
"""
Retrieves association table data for a given entity and association type
@@ -116,9 +105,6 @@ def _association_table(
q=query,
traverse_orthologs=traverse_orthologs,
direct=direct,
- facet_fields=facet_fields,
- facet_queries=facet_queries,
- filter_queries=filter_queries,
sort=sort,
offset=pagination.offset,
limit=pagination.limit,
diff --git a/backend/src/monarch_py/cli.py b/backend/src/monarch_py/cli.py
index cea6ea45f..3f2150194 100644
--- a/backend/src/monarch_py/cli.py
+++ b/backend/src/monarch_py/cli.py
@@ -1,21 +1,22 @@
import importlib
-import importlib.util
from pathlib import Path
-from typing import Annotated, Optional
+from typing import List, Optional
+from typing_extensions import Annotated
import typer
from monarch_py import solr_cli, sql_cli
from monarch_py.api.config import semsimian
from monarch_py.api.additional_models import SemsimMetric
-from monarch_py.utils.solr_cli_utils import check_for_docker
-from monarch_py.utils.utils import (
- set_log_level,
- get_release_metadata,
- get_release_versions,
+from monarch_py.datamodels.category_enums import (
+ AssociationCategory,
+ AssociationPredicate,
+ EntityCategory,
+ MappingPredicate,
)
+from monarch_py.utils.solr_cli_utils import check_for_docker
+from monarch_py.utils.utils import set_log_level, get_release_metadata, get_release_versions
from monarch_py.utils.format_utils import format_output
-from monarch_py.utils import cli_fields as fields
app = typer.Typer()
@@ -27,31 +28,11 @@
def callback(
ctx: typer.Context,
version: Annotated[
- Optional[bool],
- typer.Option(
- "--version",
- "-v",
- help="Show the currently installed version",
- is_eager=True,
- ),
+ Optional[bool], typer.Option("--version", "-v", help="Show the currently installed version", is_eager=True)
] = None,
- quiet: Annotated[
- bool,
- typer.Option(
- "--quiet",
- "-q",
- help="Set log level to warning",
- ),
- ] = False,
- debug: Annotated[
- bool,
- typer.Option(
- "--debug",
- "-d",
- help="Set log level to debug",
- ),
- ] = False,
# verbose: Annotated[int, typer.Option("--verbose", "-v", count=True)] = 0,
+ quiet: Annotated[bool, typer.Option("--quiet", "-q", help="Set log level to warning")] = False,
+ debug: Annotated[bool, typer.Option("--debug", "-d", help="Set log level to debug")] = False,
):
if version and ctx.invoked_subcommand is None:
from monarch_py import __version__
@@ -82,13 +63,8 @@ def schema():
Print the linkml schema for the data model
"""
schema_name = "model"
- import_path = f"monarch_py.datamodels.{schema_name}"
- schema_module_spec = importlib.util.find_spec(f"monarch_py.datamodels.{schema_name}")
- if schema_module_spec is None or schema_module_spec.origin is None:
- print(f"No python module found at {import_path}")
- raise typer.Exit(code=1)
- schema_dir = Path(schema_module_spec.origin).parent
- schema_path = schema_dir / f"{schema_name}.yaml"
+ schema_dir = Path(importlib.util.find_spec(f"monarch_py.datamodels.{schema_name}").origin).parent
+ schema_path = schema_dir / Path(schema_name + ".yaml")
with open(schema_path, "r") as schema_file:
print(schema_file.read())
raise typer.Exit()
@@ -97,15 +73,247 @@ def schema():
### "Aliases" for Solr CLI ###
-app.command("entity")(solr_cli.entity)
-app.command("associations")(solr_cli.associations)
-app.command("multi-entity-associations")(solr_cli.multi_entity_associations)
-app.command("search")(solr_cli.search)
-app.command("autocomplete")(solr_cli.autocomplete)
-app.command("histopheno")(solr_cli.histopheno)
-app.command("association-counts")(solr_cli.association_counts)
-app.command("association-table")(solr_cli.association_table)
-app.command("mappings")(solr_cli.mappings)
+@app.command("entity")
+def entity(
+ id: str = typer.Argument(None, help="The identifier of the entity to be retrieved"),
+ extra: bool = typer.Option(
+ False,
+ "--extra",
+ "-e",
+ help="Include extra fields in the output (association_counts and node_hierarchy)",
+ ),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
+):
+ """
+ Retrieve an entity by ID
+
+ Args:
+ id: The identifier of the entity to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
+ """
+ solr_cli.entity(**locals())
+
+
+@app.command("associations")
+def associations(
+ category: List[AssociationCategory] = typer.Option(
+ None, "--category", "-c", help="Category to get associations for"
+ ),
+ subject: List[str] = typer.Option(None, "--subject", "-s", help="Subject ID to get associations for"),
+ predicate: List[AssociationPredicate] = typer.Option(
+ None, "--predicate", "-p", help="Predicate ID to get associations for"
+ ),
+ object: List[str] = typer.Option(None, "--object", "-o", help="Object ID to get associations for"),
+ entity: List[str] = typer.Option(
+ None, "--entity", "-e", help="Entity (subject or object) ID to get associations for"
+ ),
+ direct: bool = typer.Option(
+ False,
+ "--direct",
+ "-d",
+ help="Whether to exclude associations with subject/object as ancestors",
+ ),
+ compact: bool = typer.Option(
+ False,
+ "--compact",
+ "-C",
+ help="Whether to return a compact representation of the associations",
+ ),
+ limit: int = typer.Option(20, "--limit", "-l", help="The number of associations to return"),
+ offset: int = typer.Option(0, "--offset", help="The offset of the first association to be retrieved"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
+):
+ """
+ Paginate through associations
+
+ Args:
+ category: A comma-separated list of categories
+ subject: A comma-separated list of subjects
+ predicate: A comma-separated list of predicates
+ object: A comma-separated list of objects
+ entity: A comma-separated list of entities
+ limit: The number of associations to return
+ direct: Whether to exclude associations with subject/object as ancestors
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+ """
+ solr_cli.associations(**locals())
+
+
+@app.command("multi-entity-associations")
+def multi_entity_associations(
+ entity: List[str] = typer.Option(None, "--entity", "-e", help="Comma-separated list of entities"),
+ counterpart_category: List[str] = typer.Option(None, "--counterpart-category", "-c"),
+ limit: int = typer.Option(20, "--limit", "-l"),
+ offset: int = typer.Option(0, "--offset"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-o", help="The path to the output file"),
+):
+ """
+ Paginate through associations for multiple entities
+
+ Args:
+ entity: A comma-separated list of entities
+ counterpart_category: A comma-separated list of counterpart categories
+ limit: The number of associations to return
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+ """
+ solr_cli.multi_entity_associations(**locals())
+
+
+@app.command("search")
+def search(
+ q: str = typer.Option(None, "--query", "-q"),
+ category: List[EntityCategory] = typer.Option(None, "--category", "-c"),
+ in_taxon_label: str = typer.Option(None, "--in-taxon-label", "-t"),
+ facet_fields: List[str] = typer.Option(None, "--facet-fields", "-ff"),
+ facet_queries: List[str] = typer.Option(None, "--facet-queries"),
+ limit: int = typer.Option(20, "--limit", "-l"),
+ offset: int = typer.Option(0, "--offset"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
+ # sort: str = typer.Option(None, "--sort", "-s"),
+):
+ """
+ Search for entities
+
+ Args:
+ q: The query string to search for
+ category: The category of the entity
+ in_taxon_label: The taxon label to filter by
+ limit: The number of entities to return
+ offset: The offset of the first entity to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+ """
+ solr_cli.search(**locals())
+
+
+@app.command("autocomplete")
+def autocomplete(
+ q: str = typer.Argument(None, help="Query string to autocomplete against"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
+):
+ """
+ Return entity autcomplete matches for a query string
+
+ Args:
+ q: The query string to autocomplete against
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
+ """
+ solr_cli.autocomplete(**locals())
+
+
+@app.command("histopheno")
+def histopheno(
+ subject: str = typer.Argument(None, help="The subject of the association"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
+):
+ """
+ Retrieve the histopheno data for an entity by ID
+
+ Args:
+ subject: The subject of the association
+
+ Optional Args:
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
+ """
+ solr_cli.histopheno(**locals())
+
+
+@app.command("association-counts")
+def association_counts(
+ entity: str = typer.Argument(None, help="The entity to get association counts for"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
+):
+ """
+ Retrieve association counts for an entity by ID
+
+ Args:
+ entity: The entity to get association counts for
+ fmt: The format of the output (json, yaml, tsv, table). Default JSON
+ output: The path to the output file. Default stdout
+
+ Returns:
+ A list of association counts for the given entity containing association type, label and count
+ """
+ solr_cli.association_counts(**locals())
+
+
+@app.command("association-table")
+def association_table(
+ entity: str = typer.Argument(..., help="The entity to get associations for"),
+ category: AssociationCategory = typer.Argument(
+ ...,
+ help="The association category to get associations for, ex. biolink:GeneToPhenotypicFeatureAssociation",
+ ),
+ q: str = typer.Option(None, "--query", "-q"),
+ traverse_orthologs: bool = typer.Option(
+ False,
+ "--traverse-orthologs",
+ "-t",
+ help="Whether to traverse orthologs when getting associations",
+ ),
+ sort: List[str] = typer.Option(None, "--sort", "-s"),
+ limit: int = typer.Option(5, "--limit", "-l"),
+ offset: int = typer.Option(0, "--offset"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
+):
+ solr_cli.association_table(**locals())
### CLI Commands for Semsimian ###
@@ -113,64 +321,88 @@ def schema():
@app.command("compare")
def compare(
- subjects: Annotated[
- str,
- typer.Argument(
- help="Comma separated list of subjects to compare",
- ),
- ],
- objects: Annotated[
- str,
- typer.Argument(
- help="Comma separated list of objects to compare",
- ),
- ],
- metric: Annotated[
- SemsimMetric,
- typer.Option(
- "--metric",
- "-m",
- help="The metric to use for comparison",
- ),
- ] = SemsimMetric.ANCESTOR_INFORMATION_CONTENT,
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ subjects: str = typer.Argument(..., help="Comma separated list of subjects to compare"),
+ objects: str = typer.Argument(..., help="Comma separated list of objects to compare"),
+ metric: SemsimMetric = typer.Option(
+ SemsimMetric.ANCESTOR_INFORMATION_CONTENT,
+ "--metric",
+ "-m",
+ help="The metric to use for comparison",
+ ),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
"""Compare two sets of phenotypes using semantic similarity via SemSimian"""
- subjects_list = subjects.split(",")
- objects_list = objects.split(",")
- response = semsimian().compare(subjects_list, objects_list, metric)
+ subjects = subjects.split(",")
+ objects = objects.split(",")
+ response = semsimian().compare(subjects, objects, metric)
format_output(fmt, response, output)
+### Misc CLI Commands ###
+
+
+@app.command("mappings")
+def mappings(
+ entity_id: List[str] = typer.Option(None, "--entity-id", "-e", help="entity ID to get mappings for"),
+ subject_id: List[str] = typer.Option(None, "--subject-id", "-s", help="subject ID to get mappings for"),
+ predicate_id: List[MappingPredicate] = typer.Option(
+ None, "--predicate-id", "-p", help="predicate ID to get mappings for"
+ ),
+ object_id: List[str] = typer.Option(None, "--object-id", "-o", help="object ID to get mappings for"),
+ mapping_justification: List[str] = typer.Option(
+ None, "--mapping-justification", "-m", help="mapping justification to get mappings for"
+ ),
+ offset: int = typer.Option(0, "--offset", help="The offset of the first mapping to be retrieved"),
+ limit: int = typer.Option(20, "--limit", "-l", help="The number of mappings to return"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
+):
+ solr_cli.mappings(**locals())
+
+
### CLI Commands for Release Info ###
@app.command("releases")
def releases(
- dev: Annotated[
- bool,
- typer.Option(
- "--dev",
- help="Get dev releases of the KG (default is False)",
- ),
- ] = False,
- limit: fields.LimitOption = 0,
+ dev: bool = typer.Option(False, "--dev", help="Get dev releases of the KG (default is False)"),
+ limit: int = typer.Option(0, "--limit", "-l", help="The number of releases to return"),
):
"""
List all available releases of the Monarch Knowledge Graph
"""
- get_release_versions(dev, limit, print_info=True)
+ get_release_versions(**locals(), print_info=True)
@app.command("release")
def release(
- release_ver: str = typer.Argument(help="The release version to get metadata for"),
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ release_ver: str = typer.Argument(None, help="The release version to get metadata for"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
"""
Retrieve metadata for a specific release
+
+ Args:
+ release_ver: The release version to get metadata for
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
"""
release_info = get_release_metadata(release_ver)
format_output(fmt, release_info, output)
diff --git a/backend/src/monarch_py/datamodels/model.py b/backend/src/monarch_py/datamodels/model.py
index 48bab5f32..b453f149f 100644
--- a/backend/src/monarch_py/datamodels/model.py
+++ b/backend/src/monarch_py/datamodels/model.py
@@ -662,6 +662,16 @@ class Association(ConfiguredBaseModel):
"linkml_meta": {"alias": "qualifiers_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ qualifiers_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "qualifiers_closure", "domain_of": ["Association"]}},
+ )
+ qualifiers_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "qualifiers_closure_label", "domain_of": ["Association"]}},
+ )
qualifier: Optional[List[str]] = Field(
None, json_schema_extra={"linkml_meta": {"alias": "qualifier", "domain_of": ["Association"]}}
)
@@ -682,6 +692,16 @@ class Association(ConfiguredBaseModel):
"linkml_meta": {"alias": "qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "qualifier_closure", "domain_of": ["Association"]}},
+ )
+ qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "qualifier_closure_label", "domain_of": ["Association"]}},
+ )
frequency_qualifier_label: Optional[str] = Field(
None,
description="""The name of the frequency_qualifier entity""",
@@ -701,6 +721,16 @@ class Association(ConfiguredBaseModel):
"linkml_meta": {"alias": "frequency_qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ frequency_qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_closure", "domain_of": ["Association"]}},
+ )
+ frequency_qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_closure_label", "domain_of": ["Association"]}},
+ )
onset_qualifier_label: Optional[str] = Field(
None,
description="""The name of the onset_qualifier entity""",
@@ -720,6 +750,16 @@ class Association(ConfiguredBaseModel):
"linkml_meta": {"alias": "onset_qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ onset_qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing onset_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_closure", "domain_of": ["Association"]}},
+ )
+ onset_qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing onset_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_closure_label", "domain_of": ["Association"]}},
+ )
sex_qualifier_label: Optional[str] = Field(
None,
description="""The name of the sex_qualifier entity""",
@@ -739,6 +779,16 @@ class Association(ConfiguredBaseModel):
"linkml_meta": {"alias": "sex_qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ sex_qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing sex_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_closure", "domain_of": ["Association"]}},
+ )
+ sex_qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing sex_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_closure_label", "domain_of": ["Association"]}},
+ )
stage_qualifier_label: Optional[str] = Field(
None,
description="""The name of the stage_qualifier entity""",
@@ -758,6 +808,16 @@ class Association(ConfiguredBaseModel):
"linkml_meta": {"alias": "stage_qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ stage_qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing stage_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_closure", "domain_of": ["Association"]}},
+ )
+ stage_qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing stage_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_closure_label", "domain_of": ["Association"]}},
+ )
disease_context_qualifier: Optional[str] = Field(
None,
description="""A context qualifier representing a disease or condition in which a relationship expressed in an association took place.""",
@@ -806,42 +866,6 @@ class Association(ConfiguredBaseModel):
"linkml_meta": {"alias": "disease_context_qualifier_closure_label", "domain_of": ["Association"]}
},
)
- species_context_qualifier: Optional[str] = Field(
- None,
- description="""A context qualifier representing a species in which a relationship expressed in an association took place.""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "species_context_qualifier",
- "domain_of": ["Association"],
- "examples": [{"value": "NCBITaxon:9606"}],
- }
- },
- )
- species_context_qualifier_label: Optional[str] = Field(
- None,
- description="""The name of the species_context_qualifier entity""",
- json_schema_extra={
- "linkml_meta": {"alias": "species_context_qualifier_label", "domain_of": ["Association"], "is_a": "name"}
- },
- )
- species_context_qualifier_namespace: Optional[str] = Field(
- None,
- description="""The namespace/prefix of the species_context_qualifier entity""",
- json_schema_extra={
- "linkml_meta": {"alias": "species_context_qualifier_namespace", "domain_of": ["Association"]}
- },
- )
- species_context_qualifier_category: Optional[str] = Field(
- None,
- description="""The category of the species_context_qualifier entity""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "species_context_qualifier_category",
- "domain_of": ["Association"],
- "is_a": "category",
- }
- },
- )
class AssociationCountList(ConfiguredBaseModel):
@@ -1348,6 +1372,16 @@ class DirectionalAssociation(Association):
"linkml_meta": {"alias": "qualifiers_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ qualifiers_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "qualifiers_closure", "domain_of": ["Association"]}},
+ )
+ qualifiers_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "qualifiers_closure_label", "domain_of": ["Association"]}},
+ )
qualifier: Optional[List[str]] = Field(
None, json_schema_extra={"linkml_meta": {"alias": "qualifier", "domain_of": ["Association"]}}
)
@@ -1368,6 +1402,16 @@ class DirectionalAssociation(Association):
"linkml_meta": {"alias": "qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "qualifier_closure", "domain_of": ["Association"]}},
+ )
+ qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "qualifier_closure_label", "domain_of": ["Association"]}},
+ )
frequency_qualifier_label: Optional[str] = Field(
None,
description="""The name of the frequency_qualifier entity""",
@@ -1387,6 +1431,16 @@ class DirectionalAssociation(Association):
"linkml_meta": {"alias": "frequency_qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ frequency_qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_closure", "domain_of": ["Association"]}},
+ )
+ frequency_qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing frequency_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "frequency_qualifier_closure_label", "domain_of": ["Association"]}},
+ )
onset_qualifier_label: Optional[str] = Field(
None,
description="""The name of the onset_qualifier entity""",
@@ -1406,6 +1460,16 @@ class DirectionalAssociation(Association):
"linkml_meta": {"alias": "onset_qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ onset_qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing onset_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_closure", "domain_of": ["Association"]}},
+ )
+ onset_qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing onset_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "onset_qualifier_closure_label", "domain_of": ["Association"]}},
+ )
sex_qualifier_label: Optional[str] = Field(
None,
description="""The name of the sex_qualifier entity""",
@@ -1425,6 +1489,16 @@ class DirectionalAssociation(Association):
"linkml_meta": {"alias": "sex_qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ sex_qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing sex_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_closure", "domain_of": ["Association"]}},
+ )
+ sex_qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing sex_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "sex_qualifier_closure_label", "domain_of": ["Association"]}},
+ )
stage_qualifier_label: Optional[str] = Field(
None,
description="""The name of the stage_qualifier entity""",
@@ -1444,6 +1518,16 @@ class DirectionalAssociation(Association):
"linkml_meta": {"alias": "stage_qualifier_category", "domain_of": ["Association"], "is_a": "category"}
},
)
+ stage_qualifier_closure: Optional[List[str]] = Field(
+ None,
+ description="""Field containing stage_qualifier id and the ids of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_closure", "domain_of": ["Association"]}},
+ )
+ stage_qualifier_closure_label: Optional[List[str]] = Field(
+ None,
+ description="""Field containing stage_qualifier name and the names of all of it's ancestors""",
+ json_schema_extra={"linkml_meta": {"alias": "stage_qualifier_closure_label", "domain_of": ["Association"]}},
+ )
disease_context_qualifier: Optional[str] = Field(
None,
description="""A context qualifier representing a disease or condition in which a relationship expressed in an association took place.""",
@@ -1492,42 +1576,6 @@ class DirectionalAssociation(Association):
"linkml_meta": {"alias": "disease_context_qualifier_closure_label", "domain_of": ["Association"]}
},
)
- species_context_qualifier: Optional[str] = Field(
- None,
- description="""A context qualifier representing a species in which a relationship expressed in an association took place.""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "species_context_qualifier",
- "domain_of": ["Association"],
- "examples": [{"value": "NCBITaxon:9606"}],
- }
- },
- )
- species_context_qualifier_label: Optional[str] = Field(
- None,
- description="""The name of the species_context_qualifier entity""",
- json_schema_extra={
- "linkml_meta": {"alias": "species_context_qualifier_label", "domain_of": ["Association"], "is_a": "name"}
- },
- )
- species_context_qualifier_namespace: Optional[str] = Field(
- None,
- description="""The namespace/prefix of the species_context_qualifier entity""",
- json_schema_extra={
- "linkml_meta": {"alias": "species_context_qualifier_namespace", "domain_of": ["Association"]}
- },
- )
- species_context_qualifier_category: Optional[str] = Field(
- None,
- description="""The category of the species_context_qualifier entity""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "species_context_qualifier_category",
- "domain_of": ["Association"],
- "is_a": "category",
- }
- },
- )
class ExpandedCurie(ConfiguredBaseModel):
@@ -2157,36 +2205,6 @@ class AssociationResults(Results):
}
},
)
- facet_fields: Optional[List[FacetField]] = Field(
- None,
- description="""Collection of facet field responses with the field values and counts""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "facet_fields",
- "domain_of": [
- "AssociationResults",
- "CompactAssociationResults",
- "AssociationTableResults",
- "SearchResults",
- ],
- }
- },
- )
- facet_queries: Optional[List[FacetValue]] = Field(
- None,
- description="""Collection of facet query responses with the query string values and counts""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "facet_queries",
- "domain_of": [
- "AssociationResults",
- "CompactAssociationResults",
- "AssociationTableResults",
- "SearchResults",
- ],
- }
- },
- )
limit: int = Field(
...,
description="""number of items to return in a response""",
@@ -2232,36 +2250,6 @@ class CompactAssociationResults(Results):
}
},
)
- facet_fields: Optional[List[FacetField]] = Field(
- None,
- description="""Collection of facet field responses with the field values and counts""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "facet_fields",
- "domain_of": [
- "AssociationResults",
- "CompactAssociationResults",
- "AssociationTableResults",
- "SearchResults",
- ],
- }
- },
- )
- facet_queries: Optional[List[FacetValue]] = Field(
- None,
- description="""Collection of facet query responses with the query string values and counts""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "facet_queries",
- "domain_of": [
- "AssociationResults",
- "CompactAssociationResults",
- "AssociationTableResults",
- "SearchResults",
- ],
- }
- },
- )
limit: int = Field(
...,
description="""number of items to return in a response""",
@@ -2307,36 +2295,6 @@ class AssociationTableResults(Results):
}
},
)
- facet_fields: Optional[List[FacetField]] = Field(
- None,
- description="""Collection of facet field responses with the field values and counts""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "facet_fields",
- "domain_of": [
- "AssociationResults",
- "CompactAssociationResults",
- "AssociationTableResults",
- "SearchResults",
- ],
- }
- },
- )
- facet_queries: Optional[List[FacetValue]] = Field(
- None,
- description="""Collection of facet query responses with the query string values and counts""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "facet_queries",
- "domain_of": [
- "AssociationResults",
- "CompactAssociationResults",
- "AssociationTableResults",
- "SearchResults",
- ],
- }
- },
- )
limit: int = Field(
...,
description="""number of items to return in a response""",
@@ -2715,32 +2673,12 @@ class SearchResults(Results):
facet_fields: Optional[List[FacetField]] = Field(
None,
description="""Collection of facet field responses with the field values and counts""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "facet_fields",
- "domain_of": [
- "AssociationResults",
- "CompactAssociationResults",
- "AssociationTableResults",
- "SearchResults",
- ],
- }
- },
+ json_schema_extra={"linkml_meta": {"alias": "facet_fields", "domain_of": ["SearchResults"]}},
)
facet_queries: Optional[List[FacetValue]] = Field(
None,
description="""Collection of facet query responses with the query string values and counts""",
- json_schema_extra={
- "linkml_meta": {
- "alias": "facet_queries",
- "domain_of": [
- "AssociationResults",
- "CompactAssociationResults",
- "AssociationTableResults",
- "SearchResults",
- ],
- }
- },
+ json_schema_extra={"linkml_meta": {"alias": "facet_queries", "domain_of": ["SearchResults"]}},
)
limit: int = Field(
...,
diff --git a/backend/src/monarch_py/datamodels/model.yaml b/backend/src/monarch_py/datamodels/model.yaml
index 5dda05399..b31c5ec6e 100644
--- a/backend/src/monarch_py/datamodels/model.yaml
+++ b/backend/src/monarch_py/datamodels/model.yaml
@@ -72,32 +72,41 @@ classes:
- qualifiers_label
- qualifiers_namespace
- qualifiers_category
+ - qualifiers_closure
+ - qualifiers_closure_label
- qualifier
- qualifier_label
- qualifier_namespace
- qualifier_category
+ - qualifier_closure
+ - qualifier_closure_label
- frequency_qualifier_label
- frequency_qualifier_namespace
- frequency_qualifier_category
+ - frequency_qualifier_closure
+ - frequency_qualifier_closure_label
- onset_qualifier_label
- onset_qualifier_namespace
- onset_qualifier_category
+ - onset_qualifier_closure
+ - onset_qualifier_closure_label
- sex_qualifier_label
- sex_qualifier_namespace
- sex_qualifier_category
+ - sex_qualifier_closure
+ - sex_qualifier_closure_label
- stage_qualifier_label
- stage_qualifier_namespace
- stage_qualifier_category
+ - stage_qualifier_closure
+ - stage_qualifier_closure_label
- disease_context_qualifier
- disease_context_qualifier_label
- disease_context_qualifier_namespace
- disease_context_qualifier_category
- disease_context_qualifier_closure
- disease_context_qualifier_closure_label
- - species_context_qualifier
- - species_context_qualifier_label
- - species_context_qualifier_namespace
- - species_context_qualifier_category
+
AssociationCount:
is_a: FacetValue
slots:
@@ -116,8 +125,6 @@ classes:
is_a: Results
slots:
- items
- - facet_fields
- - facet_queries
slot_usage:
items:
range: Association
@@ -134,8 +141,6 @@ classes:
is_a: Results
slots:
- items
- - facet_fields
- - facet_queries
slot_usage:
items:
range: CompactAssociation
@@ -143,8 +148,6 @@ classes:
is_a: Results
slots:
- items
- - facet_fields
- - facet_queries
slot_usage:
items:
range: DirectionalAssociation
@@ -385,12 +388,6 @@ slots:
- value: MONDO:0004979 # Asthma
- value: MONDO:0005148 # type 2 diabetes mellitus
range: string
- species_context_qualifier:
- description: >-
- A context qualifier representing a species in which a relationship expressed in an association took place.
- examples:
- - value: NCBITaxon:9606
- range: string
evidence_count:
description: count of supporting documents, evidence codes, and sources supplying evidence
range: integer
@@ -682,6 +679,12 @@ slots:
qualifier_category:
is_a: category
description: The category of the frequency_qualifier entity
+ qualifier_closure:
+ multivalued: true
+ description: Field containing frequency_qualifier id and the ids of all of it's ancestors
+ qualifier_closure_label:
+ multivalued: true
+ description: Field containing frequency_qualifier name and the names of all of it's ancestors
frequency_qualifier_label:
is_a: name
description: The name of the frequency_qualifier entity
@@ -691,6 +694,12 @@ slots:
frequency_qualifier_category:
is_a: category
description: The category of the frequency_qualifier entity
+ frequency_qualifier_closure:
+ multivalued: true
+ description: Field containing frequency_qualifier id and the ids of all of it's ancestors
+ frequency_qualifier_closure_label:
+ multivalued: true
+ description: Field containing frequency_qualifier name and the names of all of it's ancestors
onset_qualifier_label:
is_a: name
description: The name of the onset_qualifier entity
@@ -700,6 +709,12 @@ slots:
onset_qualifier_category:
is_a: category
description: The category of the onset_qualifier entity
+ onset_qualifier_closure:
+ multivalued: true
+ description: Field containing onset_qualifier id and the ids of all of it's ancestors
+ onset_qualifier_closure_label:
+ multivalued: true
+ description: Field containing onset_qualifier name and the names of all of it's ancestors
sex_qualifier_label:
is_a: name
description: The name of the sex_qualifier entity
@@ -709,6 +724,12 @@ slots:
sex_qualifier_category:
is_a: category
description: The category of the sex_qualifier entity
+ sex_qualifier_closure:
+ multivalued: true
+ description: Field containing sex_qualifier id and the ids of all of it's ancestors
+ sex_qualifier_closure_label:
+ multivalued: true
+ description: Field containing sex_qualifier name and the names of all of it's ancestors
stage_qualifier_label:
is_a: name
description: The name of the stage_qualifier entity
@@ -718,6 +739,12 @@ slots:
stage_qualifier_category:
is_a: category
description: The category of the stage_qualifier entity
+ stage_qualifier_closure:
+ multivalued: true
+ description: Field containing stage_qualifier id and the ids of all of it's ancestors
+ stage_qualifier_closure_label:
+ multivalued: true
+ description: Field containing stage_qualifier name and the names of all of it's ancestors
disease_context_qualifier_label:
is_a: name
description: The name of the disease_context_qualifier entity
@@ -733,15 +760,9 @@ slots:
disease_context_qualifier_closure_label:
multivalued: true
description: Field containing disease_context_qualifier name and the names of all of it's ancestors
- species_context_qualifier_label:
- is_a: name
- description: The name of the species_context_qualifier entity
- species_context_qualifier_namespace:
- range: string
- description: The namespace/prefix of the species_context_qualifier entity
- species_context_qualifier_category:
- is_a: category
- description: The category of the species_context_qualifier entity
+
+
+
# sssom slots
mappings:
description: List of ExpandedCuries with id and url for mapped entities
diff --git a/backend/src/monarch_py/datamodels/solr.py b/backend/src/monarch_py/datamodels/solr.py
index 541aaed3d..f9025b4e5 100644
--- a/backend/src/monarch_py/datamodels/solr.py
+++ b/backend/src/monarch_py/datamodels/solr.py
@@ -44,7 +44,6 @@ class SolrQuery(BaseModel):
facet_fields: Optional[List[str]] = Field(default_factory=list)
facet_queries: Optional[List[str]] = Field(default_factory=list)
filter_queries: Optional[List[str]] = Field(default_factory=list)
- facet_mincount: int = 1
query_fields: Optional[str] = None
def_type: str = "edismax"
q_op: str = "AND" # See SOLR-8812, need this plus mm=100% to allow boolean operators in queries
@@ -86,8 +85,6 @@ def _solrize(self, value):
return "facet.query"
elif value == "filter_queries":
return "fq"
- elif value == "facet_mincount":
- return "facet.mincount"
elif value == "query_fields":
return "qf"
elif value == "def_type":
diff --git a/backend/src/monarch_py/implementations/solr/solr_implementation.py b/backend/src/monarch_py/implementations/solr/solr_implementation.py
index a54905a83..6ca787f3c 100644
--- a/backend/src/monarch_py/implementations/solr/solr_implementation.py
+++ b/backend/src/monarch_py/implementations/solr/solr_implementation.py
@@ -123,7 +123,7 @@ def get_entity(self, id: str, extra: bool) -> Optional[Union[Node, Entity]]:
).items
]
node: Node = Node(
- **entity.model_dump(),
+ **entity.dict(),
node_hierarchy=self._get_node_hierarchy(entity),
association_counts=self.get_association_counts(id).items,
external_links=get_links_for_field(entity.xref) if entity.xref else [],
@@ -244,9 +244,6 @@ def get_associations(
entity: Optional[List[str]] = None,
direct: bool = False,
q: Optional[str] = None,
- facet_fields: Optional[List[str]] = None,
- facet_queries: Optional[List[str]] = None,
- filter_queries: Optional[List[str]] = None,
compact: bool = False,
offset: int = 0,
limit: int = 20,
@@ -262,9 +259,6 @@ def get_associations(
object_closure: Filter to only associations with the specified term ID as an ancestor of the object. Defaults to None
entity: Filter to only associations where the specified entities are the subject or the object. Defaults to None.
q: Query string to search within matches. Defaults to None.
- facet_fields: List of fields to include facet counts for. Defaults to None.
- facet_queries: List of queries to include facet counts for. Defaults to None.
- filter_queries: List of queries to filter results by. Defaults to None.
compact: Return compact results with fewer fields. Defaults to False.
offset: Result offset, for pagination. Defaults to 0.
limit: Limit results to specified number. Defaults to 20.
@@ -289,9 +283,6 @@ def get_associations(
object_namespace=[object_namespace] if isinstance(object_namespace, str) else object_namespace,
direct=direct,
q=q,
- facet_fields=facet_fields,
- facet_queries=facet_queries,
- filter_queries=filter_queries,
offset=offset,
limit=limit,
)
@@ -439,7 +430,6 @@ def get_association_facets(
entity: Optional[List[str]] = None,
facet_fields: Optional[List[str]] = None,
facet_queries: Optional[List[str]] = None,
- filter_queries: Optional[List[str]] = None,
) -> SearchResults:
solr = SolrService(base_url=self.base_url, core=core.ASSOCIATION)
@@ -455,7 +445,6 @@ def get_association_facets(
limit=0,
facet_fields=facet_fields,
facet_queries=facet_queries,
- filter_queries=filter_queries,
)
query_result = solr.query(query)
return SearchResults(
@@ -478,9 +467,6 @@ def get_association_table(
traverse_orthologs: bool = False,
direct: bool = False,
q: Optional[str] = None,
- facet_fields: Optional[List[str]] = None,
- facet_queries: Optional[List[str]] = None,
- filter_queries: Optional[List[str]] = None,
sort: Optional[List[str]] = None,
offset: int = 0,
limit: int = 5,
@@ -499,9 +485,6 @@ def get_association_table(
category=category.value,
direct=direct,
q=q,
- facet_fields=facet_fields,
- facet_queries=facet_queries,
- filter_queries=filter_queries,
sort=sort,
offset=offset,
limit=limit,
diff --git a/backend/src/monarch_py/implementations/solr/solr_parsers.py b/backend/src/monarch_py/implementations/solr/solr_parsers.py
index 4753ed821..cb18e878e 100644
--- a/backend/src/monarch_py/implementations/solr/solr_parsers.py
+++ b/backend/src/monarch_py/implementations/solr/solr_parsers.py
@@ -54,14 +54,7 @@ def parse_associations(
)
for doc in query_result.response.docs
]
- return CompactAssociationResults(
- items=associations,
- limit=limit,
- offset=offset,
- total=total,
- facet_fields=convert_facet_fields(query_result.facet_counts.facet_fields),
- facet_queries=convert_facet_queries(query_result.facet_counts.facet_queries),
- )
+ return CompactAssociationResults(items=associations, limit=limit, offset=offset, total=total)
else:
for doc in query_result.response.docs:
try:
@@ -79,14 +72,7 @@ def parse_associations(
get_links_for_field(association.publications) if association.publications else []
)
associations.append(association)
- return AssociationResults(
- items=associations,
- limit=limit,
- offset=offset,
- total=total,
- facet_fields=convert_facet_fields(query_result.facet_counts.facet_fields),
- facet_queries=convert_facet_queries(query_result.facet_counts.facet_queries),
- )
+ return AssociationResults(items=associations, limit=limit, offset=offset, total=total)
def parse_association_counts(query_result: SolrQueryResult, entity: str) -> AssociationCountList:
@@ -154,14 +140,7 @@ def parse_association_table(
except ValidationError:
logger.error(f"Validation error for {doc}")
raise
- results = AssociationTableResults(
- items=associations,
- limit=limit,
- offset=offset,
- total=total,
- facet_fields=convert_facet_fields(query_result.facet_counts.facet_fields),
- facet_queries=convert_facet_queries(query_result.facet_counts.facet_queries),
- )
+ results = AssociationTableResults(items=associations, limit=limit, offset=offset, total=total)
for i in zip(results.items, query_result.response.docs):
assert i[0].subject == i[1]["subject"]
return results
diff --git a/backend/src/monarch_py/implementations/solr/solr_query_utils.py b/backend/src/monarch_py/implementations/solr/solr_query_utils.py
index bd9e24ec2..4eb684eec 100644
--- a/backend/src/monarch_py/implementations/solr/solr_query_utils.py
+++ b/backend/src/monarch_py/implementations/solr/solr_query_utils.py
@@ -25,8 +25,6 @@ def build_association_query(
sort: Optional[List[str]] = None,
facet_fields: Optional[List[str]] = None,
facet_queries: Optional[List[str]] = None,
- filter_queries: Optional[List[str]] = None,
- facet_mincount: int = 1,
offset: int = 0,
limit: int = 20,
) -> SolrQuery:
@@ -73,9 +71,6 @@ def build_association_query(
query.facet_fields = facet_fields
if facet_queries:
query.facet_queries = facet_queries
- if filter_queries:
- query.filter_queries.extend(filter_queries)
- query.facet_mincount = facet_mincount
return query
@@ -84,9 +79,6 @@ def build_association_table_query(
category: str,
direct: bool = False,
q: Optional[str] = None,
- facet_fields: List[str] = None,
- facet_queries: List[str] = None,
- filter_queries: List[str] = None,
offset: int = 0,
limit: int = 5,
sort: List[str] = None,
@@ -102,16 +94,7 @@ def build_association_table_query(
]
query = build_association_query(
- entity=entity,
- category=[category],
- q=q,
- sort=sort,
- offset=offset,
- limit=limit,
- direct=direct,
- facet_fields=facet_fields,
- facet_queries=facet_queries,
- filter_queries=filter_queries,
+ entity=entity, category=[category], q=q, sort=sort, offset=offset, limit=limit, direct=direct
)
return query
diff --git a/backend/src/monarch_py/implementations/spacy/spacy_implementation.py b/backend/src/monarch_py/implementations/spacy/spacy_implementation.py
index 20c74283e..b36ae9d20 100644
--- a/backend/src/monarch_py/implementations/spacy/spacy_implementation.py
+++ b/backend/src/monarch_py/implementations/spacy/spacy_implementation.py
@@ -7,6 +7,8 @@
from monarch_py.interfaces.text_annotation_interface import TextAnnotatorInterface
from monarch_py.datamodels.model import TextAnnotationResult, SearchResult
+import pystow
+import tarfile
@dataclass
class SpacyImplementation(TextAnnotatorInterface):
@@ -16,9 +18,60 @@ class SpacyImplementation(TextAnnotatorInterface):
grounding_implementation = None
def init_spacy(self, grounding_implementation: GroundingInterface):
- self.nlp = spacy.load("en_core_sci_sm")
- self.grounding_implementation = grounding_implementation
- self.nlp("Nystagmus, strabismus, fundus, ocular albinism, lewis.")
+ try:
+ # Define the URL for the Spacy model
+ model_url = "https://s3-us-west-2.amazonaws.com/ai2-s2-scispacy/releases/v0.5.4/en_core_sci_sm-0.5.4.tar.gz"
+
+ # Use pystow.ensure to download and cache the model archive
+ try:
+ model_archive = pystow.ensure("spacy", "models", url=model_url)
+ except Exception as e:
+ raise RuntimeError(f"Failed to download or cache the Spacy model: {e}")
+
+ # Define the expected unpacked directory
+ model_dir = model_archive.parent / "en_core_sci"
+
+ # Unpack the model if it's not already unpacked
+ if not model_dir.exists():
+ try:
+ print("Unpacking Spacy model...")
+ with tarfile.open(model_archive, "r:gz") as tar:
+ tar.extractall(path=model_dir.parent)
+ except (tarfile.TarError, IOError) as e:
+ raise RuntimeError(f"Error while unpacking the Spacy model archive: {e}")
+
+ # Identify the unpacked directory dynamically
+ model_subdir = next(
+ (d for d in model_archive.parent.iterdir() if d.is_dir() and d.name.startswith("en_core_sci")), None
+ )
+ if not model_subdir:
+ raise FileNotFoundError(f"Unpacked directory not found in {model_dir}.")
+
+ inner_model_dir = next(
+ (d for d in model_subdir.iterdir() if
+ d.is_dir() and d.name.startswith("en_core_sci") and "egg-info" not in d.name), None
+ )
+ if not inner_model_dir:
+ raise FileNotFoundError(f"Inner 'en_core_sci' directory not found in {model_subdir}.")
+
+ # Load the model
+ try:
+ self.nlp = spacy.load(
+ str(model_archive.parent / model_subdir.name / inner_model_dir.name / model_subdir.name))
+ except Exception as e:
+ raise RuntimeError(f"Failed to load the Spacy model: {e}")
+
+ self.grounding_implementation = grounding_implementation
+
+ # Test the model
+ try:
+ self.nlp("Nystagmus, strabismus, fundus, ocular albinism, lewis.")
+ except Exception as e:
+ raise RuntimeError(f"Test run of Spacy NLP model failed: {e}")
+
+ except Exception as e:
+ print(f"An error occurred during Spacy initialization: {e}")
+ raise
def get_annotated_entities(self, text) -> List[TextAnnotationResult]:
"""Annotate text using SPACY"""
diff --git a/backend/src/monarch_py/solr_cli.py b/backend/src/monarch_py/solr_cli.py
index 73f6d6aec..10ffeed92 100644
--- a/backend/src/monarch_py/solr_cli.py
+++ b/backend/src/monarch_py/solr_cli.py
@@ -1,4 +1,4 @@
-from typing import List, Optional
+from typing import List
from typing_extensions import Annotated
import pystow
@@ -10,16 +10,9 @@
EntityCategory,
MappingPredicate,
)
-from monarch_py.utils.solr_cli_utils import (
- ensure_solr,
- get_solr,
- solr_status,
- start_solr,
- stop_solr,
-)
+from monarch_py.utils.solr_cli_utils import ensure_solr, get_solr, solr_status, start_solr, stop_solr
from monarch_py.utils.utils import console, set_log_level
from monarch_py.utils.format_utils import format_output
-from monarch_py.utils import cli_fields as fields
solr_app = typer.Typer()
monarchstow = pystow.module("monarch")
@@ -71,13 +64,16 @@ def status():
def download(
version: Annotated[
str,
- typer.Argument(
+ typer.Option(
+ "latest",
+ "--version",
help="The version of the Solr KG to download (latest, dev, or a specific version)",
),
] = "latest",
overwrite: Annotated[
bool,
typer.Option(
+ False,
"--overwrite",
help="Overwrite the existing Solr KG if it exists",
),
@@ -95,27 +91,37 @@ def download(
@solr_app.command("entity")
def entity(
- entity_id: Annotated[
- str,
- typer.Argument(help="The identifier of the entity to be retrieved"),
- ],
- extra: Annotated[
- bool,
- typer.Option(
- "--extra",
- "-e",
- help="Include extra fields in the output (association_counts and node_hierarchy)",
- ),
- ] = False,
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ id: str = typer.Argument(None, help="The identifier of the entity to be retrieved"),
+ extra: bool = typer.Option(
+ False,
+ "--extra",
+ "-e",
+ help="Include extra fields in the output (association_counts and node_hierarchy)",
+ ),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
"""
Retrieve an entity by ID
+
+ Args:
+ id (str): The identifier of the entity to be retrieved
+
+ Optional Args:
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
"""
+ if not id:
+ console.print("\n[bold red]Entity ID required.[/]\n")
+ raise typer.Exit(1)
solr = get_solr(update=False)
- response = solr.get_entity(entity_id, extra)
+ response = solr.get_entity(id, extra)
if response is not None:
format_output(fmt, response, output)
else:
@@ -125,160 +131,160 @@ def entity(
@solr_app.command("associations")
def associations(
- category: Annotated[
- Optional[List[AssociationCategory]],
- typer.Option(
- "--category",
- "-c",
- help="Category to get associations for",
- ),
- ] = None,
- subject: Annotated[
- Optional[List[str]],
- typer.Option(
- "--subject",
- "-s",
- help="Subject ID to get associations for",
- ),
- ] = None,
- predicate: Annotated[
- Optional[List[AssociationPredicate]],
- typer.Option(
- "--predicate",
- "-p",
- help="Predicate ID to get associations for",
- ),
- ] = None,
- object: Annotated[
- Optional[List[str]],
- typer.Option(
- "--object",
- "-o",
- help="Object ID to get associations for",
- ),
- ] = None,
- entity: Annotated[
- Optional[List[str]],
- typer.Option(
- "--entity",
- "-e",
- help="Entity (subject or object) ID to get associations for",
- ),
- ] = None,
- direct: Annotated[
- bool,
- typer.Option(
- "--direct",
- "-d",
- help="Whether to exclude associations with subject/object as ancestors",
- ),
- ] = False,
- compact: Annotated[
- bool,
- typer.Option(
- "--compact",
- "-C",
- help="Whether to return a compact representation of the associations",
- ),
- ] = False,
- limit: fields.LimitOption = 20,
- offset: fields.OffsetOption = 0,
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ category: List[AssociationCategory] = typer.Option(
+ None, "--category", "-c", help="Category to get associations for"
+ ),
+ subject: List[str] = typer.Option(None, "--subject", "-s", help="Subject ID to get associations for"),
+ predicate: List[AssociationPredicate] = typer.Option(
+ None, "--predicate", "-p", help="Predicate ID to get associations for"
+ ),
+ object: List[str] = typer.Option(None, "--object", "-o", help="Object ID to get associations for"),
+ entity: List[str] = typer.Option(
+ None, "--entity", "-e", help="Entity (subject or object) ID to get associations for"
+ ),
+ direct: bool = typer.Option(
+ False,
+ "--direct",
+ "-d",
+ help="Whether to exclude associations with subject/object as ancestors",
+ ),
+ compact: bool = typer.Option(
+ False,
+ "--compact",
+ "-C",
+ help="Whether to return a compact representation of the associations",
+ ),
+ limit: int = typer.Option(20, "--limit", "-l", help="The number of associations to return"),
+ offset: int = typer.Option(0, "--offset", help="The offset of the first association to be retrieved"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
"""
Paginate through associations
+
+ Args:
+ category: The category of the association (multi-valued)
+ subject: The subject of the association (multi-valued)
+ predicate: The predicate of the association (multi-valued)
+ object: The object of the association (multi-valued)
+ entity: The entity (subject or object) of the association (multi-valued)
+ limit: The number of associations to return (default 20)
+ direct: Whether to exclude associations with subject/object as ancestors (default False)
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table) (default json)
+ output: The path to the output file (stdout if not specified) (default None)
"""
- kwargs = locals()
- kwargs.pop("fmt", None)
- kwargs.pop("output", None)
+ args = locals()
+ args.pop("fmt", None)
+ args.pop("output", None)
solr = get_solr(update=False)
- response = solr.get_associations(**kwargs)
+ response = solr.get_associations(**args)
format_output(fmt, response, output)
@solr_app.command("multi-entity-associations")
def multi_entity_associations(
- entity: Annotated[
- Optional[List[str]],
- typer.Option(
- "--entity",
- "-e",
- help="Comma-separated list of entities",
- ),
- ] = None,
- counterpart_category: Annotated[
- Optional[List[str]],
- typer.Option(
- "--counterpart-category",
- "-c",
- help="A comma-separated list of counterpart categories"
- ),
- ] = None,
- limit: fields.LimitOption = 20,
- offset: fields.OffsetOption = 0,
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ entity: List[str] = typer.Option(None, "--entity", "-e", help="Entity ID to get associations for"),
+ counterpart_category: List[str] = typer.Option(
+ None, "--counterpart-category", "-c", help="Counterpart category to get associations for"
+ ),
+ limit: int = typer.Option(20, "--limit", "-l"),
+ offset: int = typer.Option(0, "--offset"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
"""
Paginate through associations for multiple entities
+
+ Args:
+ entity: A comma-separated list of entities
+ counterpart_category: A comma-separated list of counterpart categories
+ limit: The number of associations to return
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
"""
- kwargs = locals()
- kwargs.pop("fmt", None)
- kwargs.pop("output", None)
- kwargs["limit_per_group"] = kwargs.pop("limit")
+ args = locals()
+ args.pop("fmt", None)
+ args.pop("output", None)
+ args["limit_per_group"] = args.pop("limit")
solr = get_solr(update=False)
- response = solr.get_multi_entity_associations(**kwargs)
+ response = solr.get_multi_entity_associations(**args)
format_output(fmt, response, output)
@solr_app.command("search")
def search(
- q: fields.QueryOption = ":*",
- category: Annotated[
- Optional[List[EntityCategory]],
- typer.Option("--category", "-c"),
- ] = None,
- in_taxon_label: Annotated[
- Optional[str],
- typer.Option("--in-taxon-label", "-t"),
- ] = None,
- facet_fields: Annotated[
- Optional[List[str]],
- typer.Option("--facet-fields", "-ff"),
- ] = None,
- facet_queries: Annotated[
- Optional[List[str]],
- typer.Option("--facet-queries", "-fq"),
- ] = None,
- limit: fields.LimitOption = 20,
- offset: fields.OffsetOption = 0,
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ q: str = typer.Option("*:*", "--query", "-q"),
+ category: List[EntityCategory] = typer.Option(None, "--category", "-c"),
+ in_taxon_label: str = typer.Option(None, "--in-taxon-label", "-t"),
+ facet_fields: List[str] = typer.Option(None, "--facet-fields", "-ff"),
+ facet_queries: List[str] = typer.Option(None, "--facet-queries"),
+ limit: int = typer.Option(20, "--limit", "-l"),
+ offset: int = typer.Option(0, "--offset"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
# sort: str = typer.Option(None, "--sort", "-s"),
):
"""
Search for entities
+
+ Optional Args:
+ q: The query string to search for
+ category: The category of the entity
+ in_taxon_label: The taxon label to filter on
+ facet_fields: The fields to facet on
+ facet_queries: The queries to facet on
+ limit: The number of entities to return
+ offset: The offset of the first entity to be retrieved
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
"""
- kwargs = locals()
- kwargs.pop("fmt", None)
- kwargs.pop("output", None)
+ params = locals()
+ params.pop("fmt", None)
+ params.pop("output", None)
solr = get_solr(update=False)
- response = solr.search(**kwargs)
+ response = solr.search(**params)
format_output(fmt, response, output)
@solr_app.command("autocomplete")
def autocomplete(
- q: Annotated[str, typer.Argument(help="Query string to autocomplete against")],
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ q: str = typer.Argument(None, help="Query string to autocomplete against"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
"""
Return entity autcomplete matches for a query string
+
+ Args:
+ q: The query string to autocomplete against
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
"""
solr = get_solr(update=False)
response = solr.autocomplete(q)
@@ -287,12 +293,24 @@ def autocomplete(
@solr_app.command("histopheno")
def histopheno(
- subject: Annotated[str, typer.Argument(help="The subject of the association")],
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ subject: str = typer.Argument(None, help="The subject of the association"),
+ fmt: str = typer.Option(
+ "JSON",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
"""
Retrieve the histopheno associations for a given subject
+
+ Args:
+ subject (str): The subject of the association
+
+ Optional Args:
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
"""
if not subject:
@@ -306,58 +324,61 @@ def histopheno(
@solr_app.command("association-counts")
def association_counts(
- entity_id: Annotated[
- str, typer.Argument(help="The entity to get association counts for")
- ],
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ entity: str = typer.Argument(None, help="The entity to get association counts for"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
"""
Retrieve the association counts for a given entity
+
+ Args:
+ entity (str): The entity to get association counts for
+
+ Optional Args:
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
"""
+ if not entity:
+ console.print("\n[bold red]Entity ID required.[/]\n")
+ raise typer.Exit(1)
solr = get_solr(update=False)
- response = solr.get_association_counts(entity_id)
+ response = solr.get_association_counts(entity)
format_output(fmt, response, output)
@solr_app.command("association-table")
def association_table(
- entity_id: Annotated[
- str,
- typer.Argument(
- help="The entity to get associations for",
- ),
- ],
- category: Annotated[
- AssociationCategory,
- typer.Argument(
- help="The association category to get associations for, ex. biolink:GeneToPhenotypicFeatureAssociation",
- ),
- ],
- q: Annotated[
- Optional[str],
- typer.Option("--query", "-q"),
- ] = None,
- traverse_orthologs: Annotated[
- bool,
- typer.Option(
- "--traverse-orthologs",
- "-t",
- help="Whether to traverse orthologs when getting associations",
- ),
- ] = False,
- sort: Annotated[
- Optional[List[str]],
- typer.Option("--sort", "-s"),
- ] = None,
- limit: fields.LimitOption = 20,
- offset: fields.OffsetOption = 0,
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ entity: str = typer.Argument(..., help="The entity to get associations for"),
+ category: AssociationCategory = typer.Argument(
+ None,
+ help="The association category to get associations for, ex. biolink:GeneToPhenotypicFeatureAssociation",
+ ),
+ traverse_orthologs: bool = typer.Option(
+ False,
+ "--traverse-orthologs",
+ "-t",
+ help="Whether to traverse orthologs when getting associations",
+ ),
+ q: str = typer.Option(None, "--query", "-q"),
+ sort: List[str] = typer.Option(None, "--sort", "-s"),
+ limit: int = typer.Option(5, "--limit", "-l"),
+ offset: int = typer.Option(0, "--offset"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
solr = get_solr(update=False)
response = solr.get_association_table(
- entity=entity_id,
+ entity=entity,
category=category,
traverse_orthologs=traverse_orthologs,
sort=sort,
@@ -370,34 +391,24 @@ def association_table(
@solr_app.command("mappings")
def mappings(
- entity_id: Annotated[
- Optional[List[str]],
- typer.Option("--entity-id", "-e", help="entity ID to get mappings for"),
- ] = None,
- subject_id: Annotated[
- Optional[List[str]],
- typer.Option("--subject-id", "-s", help="subject ID to get mappings for"),
- ] = None,
- predicate_id: Annotated[
- Optional[List[MappingPredicate]],
- typer.Option("--predicate-id", "-p", help="predicate ID to get mappings for"),
- ] = None,
- object_id: Annotated[
- Optional[List[str]],
- typer.Option("--object-id", "-o", help="object ID to get mappings for"),
- ] = None,
- mapping_justification: Annotated[
- Optional[List[str]],
- typer.Option(
- "--mapping-justification",
- "-m",
- help="mapping justification to get mappings for",
- ),
- ] = None,
- limit: fields.LimitOption = 20,
- offset: fields.OffsetOption = 0,
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ entity_id: List[str] = typer.Option(None, "--entity-id", "-e", help="entity ID to get mappings for"),
+ subject_id: List[str] = typer.Option(None, "--subject-id", "-s", help="subject ID to get mappings for"),
+ predicate_id: List[MappingPredicate] = typer.Option(
+ None, "--predicate-id", "-p", help="predicate ID to get mappings for"
+ ),
+ object_id: List[str] = typer.Option(None, "--object-id", "-o", help="object ID to get mappings for"),
+ mapping_justification: List[str] = typer.Option(
+ None, "--mapping-justification", "-m", help="mapping justification to get mappings for"
+ ),
+ offset: int = typer.Option(0, "--offset", help="The offset of the first mapping to be retrieved"),
+ limit: int = typer.Option(20, "--limit", "-l", help="The number of mappings to return"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-O", help="The path to the output file"),
):
args = locals()
args.pop("fmt", None)
diff --git a/backend/src/monarch_py/sql_cli.py b/backend/src/monarch_py/sql_cli.py
index 665f60752..c10a1b6a5 100644
--- a/backend/src/monarch_py/sql_cli.py
+++ b/backend/src/monarch_py/sql_cli.py
@@ -1,4 +1,4 @@
-from typing import List, Optional
+from typing import List
from typing_extensions import Annotated
import typer
@@ -10,7 +10,6 @@
from monarch_py.implementations.sql.sql_implementation import SQLImplementation
from monarch_py.utils.utils import console, set_log_level
from monarch_py.utils.format_utils import format_output
-from monarch_py.utils import cli_fields as fields
sql_app = typer.Typer()
app_state = {"log_level": "WARNING"}
@@ -34,32 +33,36 @@ def callback(
@sql_app.command()
def entity(
- entity_id: Annotated[
- str,
- typer.Argument(help="The identifier of the entity to be retrieved"),
- ],
- extra: Annotated[
- bool,
- typer.Option(
- "--extra",
- "-e",
- help="Include extra fields in the output (association_counts and node_hierarchy)",
- ),
- ],
- update: Annotated[
- bool,
- typer.Option(
- "--update",
- "-u",
- help="Whether to re-download the Monarch KG",
- ),
- ],
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ id: str = typer.Argument(None, help="The identifier of the entity to be retrieved"),
+ extra: bool = typer.Option(
+ False,
+ "--extra",
+ "-e",
+ help="Include extra fields in the output (association_counts and node_hierarchy)",
+ ),
+ update: bool = typer.Option(False, "--update", "-u", help="Whether to re-download the Monarch KG"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-o", help="The path to the output file"),
):
- """Retrieve an entity by ID"""
+ """Retrieve an entity by ID
+
+ Args:
+ id (str): The identifier of the entity to be retrieved
+ update (bool): = Whether to re-download the Monarch KG. Default False
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
+ """
+ if not id:
+ console.print("\n[bold red]Entity ID required.[/]\n")
+ raise typer.Exit(1)
+
data = SQLImplementation()
- response = data.get_entity(entity_id, update, extra)
+ response = data.get_entity(id, update, extra)
if not response:
console.print(f"\nEntity '{id}' not found.\n")
@@ -69,69 +72,53 @@ def entity(
@sql_app.command()
def associations(
- category: Annotated[
- Optional[List[AssociationCategory]],
- typer.Option(
- "--category",
- "-c",
- help="Category to get associations for",
- ),
- ] = None,
- subject: Annotated[
- Optional[List[str]],
- typer.Option(
- "--subject",
- "-s",
- help="Subject ID to get associations for",
- ),
- ] = None,
- predicate: Annotated[
- Optional[List[AssociationPredicate]],
- typer.Option(
- "--predicate",
- "-p",
- help="Predicate ID to get associations for",
- ),
- ] = None,
- object: Annotated[
- Optional[List[str]],
- typer.Option(
- "--object",
- "-o",
- help="Object ID to get associations for",
- ),
- ] = None,
- entity: Annotated[
- Optional[List[str]],
- typer.Option(
- "--entity",
- "-e",
- help="Entity (subject or object) ID to get associations for",
- ),
- ] = None,
- direct: Annotated[
- bool,
- typer.Option(
- "--direct",
- "-d",
- help="Whether to exclude associations with subject/object as ancestors",
- ),
- ] = False,
- compact: Annotated[
- bool,
- typer.Option(
- "--compact",
- "-C",
- help="Whether to return a compact representation of the associations",
- ),
- ] = False,
- limit: fields.LimitOption = 20,
- offset: fields.OffsetOption = 0,
- fmt: fields.FormatOption = fields.OutputFormat.json,
- output: fields.OutputOption = None,
+ category: List[AssociationCategory] = typer.Option(
+ None, "--category", "-c", help="Category to get associations for"
+ ),
+ subject: List[str] = typer.Option(None, "--subject", "-s", help="Subject ID to get associations for"),
+ predicate: List[AssociationPredicate] = typer.Option(
+ None, "--predicate", "-p", help="Predicate ID to get associations for"
+ ),
+ object: List[str] = typer.Option(None, "--object", "-o", help="Object ID to get associations for"),
+ entity: List[str] = typer.Option(
+ None, "--entity", "-e", help="Entity (subject or object) ID to get associations for"
+ ),
+ direct: bool = typer.Option(
+ False,
+ "--direct",
+ "-d",
+ help="Whether to exclude associations with subject/object as ancestors",
+ ),
+ compact: bool = typer.Option(
+ False,
+ "--compact",
+ "-C",
+ help="Whether to return a compact representation of the associations",
+ ),
+ limit: int = typer.Option(20, "--limit", "-l", help="The number of associations to return"),
+ offset: int = typer.Option(0, "--offset", help="The offset of the first association to be retrieved"),
+ fmt: str = typer.Option(
+ "json",
+ "--format",
+ "-f",
+ help="The format of the output (json, yaml, tsv, table)",
+ ),
+ output: str = typer.Option(None, "--output", "-o", help="The path to the output file"),
):
- """
- Paginate through associations
+ """Paginate through associations
+
+ Args:
+ category: A comma-separated list of categories
+ subject: A comma-separated list of subjects
+ predicate: A comma-separated list of predicates
+ object: A comma-separated list of objects
+ entity: A comma-separated list of entities
+ direct: Whether to exclude associations with subject/object as ancestors
+ compact: Whether to return a compact representation of the associations
+ limit: The number of associations to return
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
"""
args = locals()
args.pop("fmt", None)
diff --git a/backend/src/monarch_py/utils/cli_fields.py b/backend/src/monarch_py/utils/cli_fields.py
deleted file mode 100644
index f124e444f..000000000
--- a/backend/src/monarch_py/utils/cli_fields.py
+++ /dev/null
@@ -1,57 +0,0 @@
-from enum import Enum
-from typing import Annotated, Optional
-
-import typer
-
-# Common options
-
-QueryOption = Annotated[
- str,
- typer.Option(
- "--query",
- "-q",
- ),
-]
-
-LimitOption = Annotated[
- int,
- typer.Option(
- "--limit",
- "-l",
- help="The number of results to return",
- ),
-]
-
-OffsetOption = Annotated[
- int,
- typer.Option(
- "--offset",
- help="The offset of the first result to be retrieved",
- ),
-]
-
-
-class OutputFormat(str, Enum):
- json = "json"
- yaml = "yaml"
- tsv = "tsv"
- table = "table"
-
-
-FormatOption = Annotated[
- OutputFormat,
- typer.Option(
- "--format",
- "-f",
- help="The format of the output (json, yaml, tsv, table)",
- ),
-]
-
-OutputOption = Annotated[
- Optional[str],
- typer.Option(
- "--output",
- "-O",
- help="Path to file to write command output (stdout if not specified)",
- ),
-]
diff --git a/backend/tests/api/__init__.py b/backend/tests/api/__init__.py
deleted file mode 100644
index e69de29bb..000000000
diff --git a/backend/tests/api/test_association_router.py b/backend/tests/api/test_association_router.py
index c5c75103e..fe05430e1 100644
--- a/backend/tests/api/test_association_router.py
+++ b/backend/tests/api/test_association_router.py
@@ -41,9 +41,6 @@ def test_associations_params(mock_get_assoc):
"object_namespace": ["MONDO", "HP"],
"direct": True,
"compact": True,
- "facet_fields": [],
- "facet_queries": [],
- "filter_queries": [],
"offset": 0,
"limit": 20,
}
diff --git a/backend/tests/api/test_entity_router.py b/backend/tests/api/test_entity_router.py
index 9de8217d8..0b9cd6b11 100644
--- a/backend/tests/api/test_entity_router.py
+++ b/backend/tests/api/test_entity_router.py
@@ -26,9 +26,6 @@ def test_association_table(mock_get_assoc_table):
q=None,
traverse_orthologs=False,
direct=False,
- facet_fields=None,
- facet_queries=None,
- filter_queries=None,
sort=None,
offset=0,
limit=20,
diff --git a/backend/tests/fixtures/association_counts.py b/backend/tests/fixtures/association_counts.py
index 1764cf63a..a7cba13d9 100644
--- a/backend/tests/fixtures/association_counts.py
+++ b/backend/tests/fixtures/association_counts.py
@@ -7,12 +7,12 @@ def association_counts():
"items": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4115,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation",
},
- {"label": "Causal Gene", "count": 125, "category": "biolink:CausalGeneToDiseaseAssociation"},
- {"label": "Correlated Gene", "count": 150, "category": "biolink:CorrelatedGeneToDiseaseAssociation"},
+ {"label": "Causal Gene", "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation"},
+ {"label": "Correlated Gene", "count": 151, "category": "biolink:CorrelatedGeneToDiseaseAssociation"},
{"label": "Variant to Disease", "count": 1, "category": "biolink:VariantToDiseaseAssociation"},
- {"label": "Disease Model", "count": 238, "category": "biolink:GenotypeToDiseaseAssociation"},
+ {"label": "Disease Model", "count": 237, "category": "biolink:GenotypeToDiseaseAssociation"},
]
}
diff --git a/backend/tests/fixtures/association_counts_query.py b/backend/tests/fixtures/association_counts_query.py
index 848ec8ba0..3d1a49d2c 100644
--- a/backend/tests/fixtures/association_counts_query.py
+++ b/backend/tests/fixtures/association_counts_query.py
@@ -47,7 +47,6 @@ def association_counts_query():
"filter_queries": [
'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121"'
],
- "facet_mincount": 1,
"query_fields": None,
"def_type": "edismax",
"q_op": "AND",
diff --git a/backend/tests/fixtures/association_counts_response.py b/backend/tests/fixtures/association_counts_response.py
index 508b173a7..a506c9e96 100644
--- a/backend/tests/fixtures/association_counts_response.py
+++ b/backend/tests/fixtures/association_counts_response.py
@@ -5,7 +5,7 @@
def association_counts_response():
return {
"responseHeader": {
- "QTime": 2,
+ "QTime": 0,
"params": {
"facet.query": [
'(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
@@ -48,2365 +48,4649 @@ def association_counts_response():
"start": "0",
"q.op": "AND",
"fq": 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121"',
- "facet.mincount": "1",
"rows": "20",
"facet": "true",
},
},
"response": {
- "num_found": 5079,
+ "num_found": 5116,
"start": 0,
"docs": [
{
- "id": "urn:uuid:c3d2efc2-8a36-49a0-918a-e722adbe7cf4",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0100531",
- "object": "MONDO:0010680",
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
+ "id": "uuid:c66e15a4-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "Orphanet:397744",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "agent_type": "manual_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "knowledge_level": "knowledge_assertion",
+ "primary_knowledge_source": "infores:orphanet",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
+ "frequency_qualifier": "HP:0040282",
+ "has_evidence": ["ECO:0000304"],
+ "negated": False,
+ "subject": "MONDO:0013711",
+ "object": "HP:0000762",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "BFO:0000002",
- "MONDO:0005267",
+ "BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0100531",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0002545",
],
"subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
- "X-linked disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "Emery-Dreifuss muscular dystrophy 1, X-linked",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "familial cardiomyopathy",
- "myopathy",
- "continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
- "cardiovascular disorder",
+ "continuant",
"human disease",
- "intrinsic cardiomyopathy",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "entity",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "object_label": "Decreased nerve conduction velocity",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UBERON:0011216",
+ "BFO:0000020",
+ "UPHENO:0002433",
+ "UPHENO:0002530",
+ "BFO:0000015",
+ "UBERON:0000468",
+ "UPHENO:0002281",
+ "HP:0000118",
+ "GO:0003008",
+ "UBERON:0000061",
+ "UBERON:0000467",
+ "BFO:0000002",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0002963",
+ "HP:0001311",
+ "CL:0000111",
+ "HP:0032120",
+ "UPHENO:0002308",
+ "UPHENO:0004523",
+ "UPHENO:0002525",
+ "BFO:0000003",
+ "BFO:0000002",
+ "GO:0007154",
+ "HP:0000001",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "HP:0040129",
+ "UPHENO:0002536",
+ "BFO:0000001",
+ "BFO:0000004",
+ "GO:0019226",
+ "HP:0030177",
+ "UPHENO:0005116",
+ "PATO:0000001",
+ "HP:0003134",
+ "GO:0009987",
+ "GO:0032501",
+ "GO:0050877",
+ "UBERON:0001016",
+ "HP:0000762",
+ "HP:0410008",
+ "UPHENO:0002568",
+ "UPHENO:0002463",
+ "UPHENO:0001002",
+ "GO:0008150",
+ "BFO:0000040",
+ "UBERON:0000010",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "UBERON:0000465",
+ ],
+ "object_closure_label": [
+ "Abnormality of the peripheral nervous system",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "entity",
+ "anatomical entity",
+ "nervous system process",
+ "Abnormality of peripheral nervous system electrophysiology",
+ "peripheral nervous system phenotype",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "organ system subdivision",
+ "entity",
+ "process",
+ "specifically dependent continuant",
+ "nervous system physiology phenotype",
+ "organ system subdivision phenotype",
+ "phenotypic effect",
+ "multicellular anatomical structure physiology phenotype",
+ "nervous system phenotype",
+ "Abnormal nerve conduction velocity",
+ "taxon specific phenotype",
+ "peripheral nervous system physiology phenotype",
+ "system process",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotype",
+ "continuant",
+ "Abnormal nervous system electrophysiology",
+ "anatomical structure phenotype",
+ "Decreased nerve conduction velocity",
+ "quality",
+ "Abnormality of peripheral nerve conduction",
+ "organ system subdivision physiology phenotype",
+ "Phenotypic abnormality",
+ "cellular process",
+ "multicellular organismal process",
+ "multicellular anatomical structure",
+ "anatomical entity phenotype",
+ "occurrent",
+ "continuant",
+ "material anatomical entity",
+ "All",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "biological_process",
+ "material entity",
+ "nervous system",
+ "Abnormal peripheral nervous system physiology",
+ "independent continuant",
+ "peripheral nervous system",
+ "cell communication",
+ "transmission of nerve impulse",
+ ],
+ "evidence_count": 1,
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0000762",
+ },
+ {
+ "id": "uuid:c66e15a5-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "Orphanet:397744",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "agent_type": "manual_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "knowledge_level": "knowledge_assertion",
+ "primary_knowledge_source": "infores:orphanet",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
+ "frequency_qualifier": "HP:0040282",
+ "has_evidence": ["ECO:0000304"],
+ "negated": False,
+ "subject": "MONDO:0013711",
+ "object": "HP:0001265",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_category": "biolink:Disease",
+ "subject_namespace": "MONDO",
+ "subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
+ "BFO:0000017",
+ "BFO:0000001",
"BFO:0000016",
- "BFO:0000002",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0002545",
],
- "object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
- "X-linked disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "familial cardiomyopathy",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
- "cardiovascular disorder",
+ "continuant",
"human disease",
- "intrinsic cardiomyopathy",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "object_label": "Hyporeflexia",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0049622",
+ "UPHENO:0005629",
+ "UPHENO:0005491",
+ "UPHENO:0050606",
+ "UBERON:0001062",
+ "UPHENO:0049587",
+ "UBERON:0000061",
+ "NBO:0000389",
+ "UPHENO:0002433",
+ "UPHENO:0053473",
+ "UPHENO:0002530",
+ "UPHENO:0079833",
+ "BFO:0000015",
+ "UBERON:0000468",
+ "HP:0000118",
+ "BFO:0000001",
+ "GO:0003008",
+ "NBO:0000403",
+ "NBO:0000001",
+ "HP:0001265",
+ "UPHENO:0049708",
+ "UPHENO:0002536",
+ "UBERON:0000467",
+ "BFO:0000002",
+ "HP:0001315",
+ "UPHENO:0049703",
+ "GO:0008150",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0052915",
+ "BFO:0000020",
+ "UPHENO:0002963",
+ "HP:0011446",
+ "UPHENO:0049699",
+ "HP:0031826",
+ "UPHENO:0050613",
+ "UPHENO:0079826",
+ "UPHENO:0004523",
+ "UPHENO:0002525",
+ "UPHENO:0052178",
+ "UPHENO:0005433",
+ "UPHENO:0051276",
+ "BFO:0000003",
+ "BFO:0000002",
+ "GO:0009605",
+ "GO:0050879",
+ "GO:0007610",
+ "HP:0000001",
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+ "original_subject": "Orphanet:397744",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
"agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
"knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:6438177",
- "object": "MONDO:0010679",
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "Duchenne muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
+ "primary_knowledge_source": "infores:orphanet",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
+ "frequency_qualifier": "HP:0040284",
+ "has_evidence": ["ECO:0000304"],
+ "negated": False,
+ "subject": "MONDO:0013711",
+ "object": "HP:0001369",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_category": "biolink:Disease",
+ "subject_namespace": "MONDO",
+ "subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "BFO:0000020",
+ "BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
- "MONDO:0010679",
+ "MONDO:0002545",
],
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
- "continuant",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "disposition",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "Duchenne muscular dystrophy",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "object_label": "Arthritis",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "HP:0000924",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UPHENO:0081581",
+ "HP:0001369",
+ "HP:0033127",
+ "UBERON:0034925",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "UBERON:0034921",
+ "UPHENO:0002530",
+ "BFO:0000015",
+ "HP:0000118",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UPHENO:0076703",
+ "HP:0001367",
+ "UBERON:0000467",
+ "BFO:0000002",
+ "UPHENO:0002964",
+ "BFO:0000001",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UBERON:0000982",
+ "UPHENO:0002525",
+ "UBERON:0004770",
+ "UPHENO:0002568",
+ "BFO:0000003",
+ "GO:0006950",
+ "HP:0000001",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0002536",
+ "BFO:0000004",
+ "UBERON:0001434",
+ "PATO:0000001",
+ "UPHENO:0076767",
+ "GO:0050896",
+ "UBERON:0002204",
+ "GO:0006954",
+ "HP:0011842",
+ "UPHENO:0001002",
+ "GO:0008150",
+ "BFO:0000040",
+ "GO:0006952",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UBERON:0004905",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "UBERON:0000465",
+ ],
+ "object_closure_label": [
+ "Abnormal joint morphology",
+ "anatomical system",
+ "material anatomical entity phenotype",
+ "entity",
+ "anatomical entity",
+ "multicellular organism",
+ "organ system subdivision",
+ "multi organ part structure",
+ "skeletal joint",
+ "Abnormality of the skeletal system",
+ "process",
+ "anatomical collection",
+ "inflammatory response",
+ "skeletal system",
+ "multicellular organism morphology phenotype",
+ "Arthritis",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal morphology",
+ "phenotypic effect",
+ "articular system",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "anatomical entity morphology phenotype",
+ "defense response",
+ "phenotype",
+ "continuant",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "quality",
+ "skeletal joint morphology phenotype",
+ "Phenotypic abnormality",
+ "response to stimulus",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "anatomical entity phenotype",
"entity",
+ "occurrent",
+ "material anatomical entity",
+ "All",
+ "biological_process",
+ "material entity",
+ "musculoskeletal system",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "articulation",
+ "skeletal system phenotype",
+ "skeletal system morphology phenotype",
+ "continuant",
+ "response to stress",
],
- "evidence_count": 0,
- "grouping_key": "MGI:6438177||biolink:model_of|MONDO:0010679",
+ "evidence_count": 1,
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001369",
},
{
- "id": "1914188e-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11727",
- "category": "biolink:GenotypeToDiseaseAssociation",
+ "id": "uuid:c66e15aa-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "Orphanet:397744",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
"agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
"knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:5524138",
- "object": "MONDO:0001347",
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0016106",
+ "primary_knowledge_source": "infores:orphanet",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
+ "frequency_qualifier": "HP:0040282",
+ "has_evidence": ["ECO:0000304"],
+ "negated": False,
+ "subject": "MONDO:0013711",
+ "object": "HP:0007340",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_category": "biolink:Disease",
+ "subject_namespace": "MONDO",
+ "subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
"BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "premature aging syndrome",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "object_label": "Lower limb muscle weakness",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "HP:0001324",
+ "HP:0003690",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UBERON:0004480",
+ "UPHENO:0080575",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "BFO:0000001",
+ "UBERON:0011216",
+ "UPHENO:0002530",
+ "UBERON:0004708",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UBERON:0007271",
+ "UBERON:0014792",
+ "UPHENO:0002861",
+ "HP:0000118",
+ "UBERON:0000061",
+ "UBERON:0010709",
+ "UPHENO:0002526",
+ "UPHENO:0002945",
+ "UPHENO:0080555",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "BFO:0000002",
+ "UPHENO:0080556",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UBERON:0010890",
+ "UPHENO:0003047",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UBERON:0018254",
+ "UBERON:0002101",
+ "UBERON:0000026",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "BFO:0000002",
+ "HP:0000001",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0002385",
+ "UPHENO:0002830",
+ "UPHENO:0003045",
+ "UPHENO:0002897",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0010707",
+ "UBERON:0014892",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "UBERON:0015212",
+ "HP:0009127",
+ "UPHENO:0002386",
+ "UPHENO:0002568",
+ "UPHENO:0002647",
+ "HP:0011805",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000475",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "HP:0040064",
+ "HP:0007340",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "PR:000050567",
+ "RO:0002577",
+ ],
+ "object_closure_label": [
+ "Abnormality of the musculature of the limbs",
+ "paired limb/fin phenotype",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "entity",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "musculature of limb phenotype",
+ "anatomical entity",
+ "lateral structure",
+ "musculature of limb",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "limb phenotype",
+ "paired limb/fin",
+ "organ system subdivision",
+ "pelvic complex muscle",
+ "Muscle weakness",
+ "Limb muscle weakness",
+ "entity",
+ "skeletal muscle organ, vertebrate",
+ "decreased pelvic complex muscle strength",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "skeletal musculature",
+ "limb",
+ "appendage musculature phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical entity morphology phenotype",
+ "quality",
+ "Lower limb muscle weakness",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "continuant",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "appendage phenotype",
+ "pelvic complex",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "taxon specific phenotype",
+ "continuant",
+ "material anatomical entity",
+ "protein-containing material entity",
+ "system",
+ "appendage musculature",
+ "musculature of pelvic complex",
+ "All",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "Abnormality of limbs",
+ "material entity",
+ "appendage",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "independent continuant",
+ "organism subdivision",
+ "musculature of body",
+ "musculature",
+ "decreased muscle organ strength",
+ "organ phenotype",
+ "anatomical entity phenotype",
+ "appendage girdle complex",
],
- "evidence_count": 0,
- "grouping_key": "MGI:5524138||biolink:model_of|MONDO:0001347",
+ "evidence_count": 1,
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0007340",
},
],
},
"facet_counts": {
"facet_fields": {},
"facet_queries": {
- '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 4082,
+ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 4115,
'(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
'(category:"biolink:PairwiseGeneToGeneInteraction") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
'(category:"biolink:GeneToPathwayAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
@@ -2432,12 +4716,12 @@ def association_counts_response():
'(category:"biolink:MacromolecularMachineToMolecularActivityAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
'(category:"biolink:MacromolecularMachineToCellularComponentAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
'(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 125,
- '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 150,
+ '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 126,
+ '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 151,
'(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
'(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 1,
'(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 238,
+ '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 237,
},
},
}
diff --git a/backend/tests/fixtures/association_query_direct.py b/backend/tests/fixtures/association_query_direct.py
index b8c2c2edc..d02137c71 100644
--- a/backend/tests/fixtures/association_query_direct.py
+++ b/backend/tests/fixtures/association_query_direct.py
@@ -26,7 +26,6 @@ def association_query_direct():
"object:TEST\\:0000002",
'subject:"TEST:0000005" OR object:"TEST:0000005"',
],
- "facet_mincount": 1,
"query_fields": "subject subject_label^2 subject_label_t subject_closure subject_closure_label subject_closure_label_t predicate predicate_t object object_label^2 object_label_t object_closure object_closure_label object_closure_label_t publications has_evidence primary_knowledge_source aggregator_knowledge_source provided_by ",
"def_type": "edismax",
"q_op": "AND",
diff --git a/backend/tests/fixtures/association_query_indirect.py b/backend/tests/fixtures/association_query_indirect.py
index 5e8503e9b..faaf6ab28 100644
--- a/backend/tests/fixtures/association_query_indirect.py
+++ b/backend/tests/fixtures/association_query_indirect.py
@@ -26,7 +26,6 @@ def association_query_indirect():
'object:"TEST:0000002" OR object_closure:"TEST:0000002"',
'subject:"TEST:0000005" OR subject_closure:"TEST:0000005" OR object:"TEST:0000005" OR object_closure:"TEST:0000005"',
],
- "facet_mincount": 1,
"query_fields": "subject subject_label^2 subject_label_t subject_closure subject_closure_label subject_closure_label_t predicate predicate_t object object_label^2 object_label_t object_closure object_closure_label object_closure_label_t publications has_evidence primary_knowledge_source aggregator_knowledge_source provided_by ",
"def_type": "edismax",
"q_op": "AND",
diff --git a/backend/tests/fixtures/association_response.py b/backend/tests/fixtures/association_response.py
index 8e07d576e..af6520502 100644
--- a/backend/tests/fixtures/association_response.py
+++ b/backend/tests/fixtures/association_response.py
@@ -14,2358 +14,4642 @@ def association_response():
"start": "0",
"q.op": "AND",
"fq": 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121"',
- "facet.mincount": "1",
"rows": "20",
"facet": "true",
},
},
"response": {
- "num_found": 5079,
+ "num_found": 5116,
"start": 0,
"docs": [
{
- "id": "urn:uuid:c3d2efc2-8a36-49a0-918a-e722adbe7cf4",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0100531",
- "object": "MONDO:0010680",
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
+ "id": "uuid:c66e15a4-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "Orphanet:397744",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "agent_type": "manual_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "knowledge_level": "knowledge_assertion",
+ "primary_knowledge_source": "infores:orphanet",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
+ "frequency_qualifier": "HP:0040282",
+ "has_evidence": ["ECO:0000304"],
+ "negated": False,
+ "subject": "MONDO:0013711",
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+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
"BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "premature aging syndrome",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "object_label": "Lower limb muscle weakness",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "HP:0001324",
+ "HP:0003690",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UBERON:0004480",
+ "UPHENO:0080575",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "BFO:0000001",
+ "UBERON:0011216",
+ "UPHENO:0002530",
+ "UBERON:0004708",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UBERON:0007271",
+ "UBERON:0014792",
+ "UPHENO:0002861",
+ "HP:0000118",
+ "UBERON:0000061",
+ "UBERON:0010709",
+ "UPHENO:0002526",
+ "UPHENO:0002945",
+ "UPHENO:0080555",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "BFO:0000002",
+ "UPHENO:0080556",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UBERON:0010890",
+ "UPHENO:0003047",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UBERON:0018254",
+ "UBERON:0002101",
+ "UBERON:0000026",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "BFO:0000002",
+ "HP:0000001",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0002385",
+ "UPHENO:0002830",
+ "UPHENO:0003045",
+ "UPHENO:0002897",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0010707",
+ "UBERON:0014892",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "UBERON:0015212",
+ "HP:0009127",
+ "UPHENO:0002386",
+ "UPHENO:0002568",
+ "UPHENO:0002647",
+ "HP:0011805",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000475",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "HP:0040064",
+ "HP:0007340",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "PR:000050567",
+ "RO:0002577",
+ ],
+ "object_closure_label": [
+ "Abnormality of the musculature of the limbs",
+ "paired limb/fin phenotype",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "entity",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "musculature of limb phenotype",
+ "anatomical entity",
+ "lateral structure",
+ "musculature of limb",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "limb phenotype",
+ "paired limb/fin",
+ "organ system subdivision",
+ "pelvic complex muscle",
+ "Muscle weakness",
+ "Limb muscle weakness",
+ "entity",
+ "skeletal muscle organ, vertebrate",
+ "decreased pelvic complex muscle strength",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "skeletal musculature",
+ "limb",
+ "appendage musculature phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical entity morphology phenotype",
+ "quality",
+ "Lower limb muscle weakness",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "continuant",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "appendage phenotype",
+ "pelvic complex",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "taxon specific phenotype",
+ "continuant",
+ "material anatomical entity",
+ "protein-containing material entity",
+ "system",
+ "appendage musculature",
+ "musculature of pelvic complex",
+ "All",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "Abnormality of limbs",
+ "material entity",
+ "appendage",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "independent continuant",
+ "organism subdivision",
+ "musculature of body",
+ "musculature",
+ "decreased muscle organ strength",
+ "organ phenotype",
+ "anatomical entity phenotype",
+ "appendage girdle complex",
],
- "evidence_count": 0,
- "grouping_key": "MGI:5524138||biolink:model_of|MONDO:0001347",
+ "evidence_count": 1,
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0007340",
},
],
},
diff --git a/backend/tests/fixtures/association_table.py b/backend/tests/fixtures/association_table.py
index d4ea1676d..ead69f3e4 100644
--- a/backend/tests/fixtures/association_table.py
+++ b/backend/tests/fixtures/association_table.py
@@ -6,7 +6,7 @@ def association_table():
return {
"limit": 5,
"offset": 0,
- "total": 4082,
+ "total": 4115,
"items": [
{
"id": "uuid:c0785538-8b41-11ef-b621-6045bdbae67e",
@@ -16,57 +16,57 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder",
],
"subject_taxon": None,
"subject_taxon_label": None,
@@ -76,349 +76,325 @@ def association_table():
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0076740",
- "UPHENO:0003415",
- "UPHENO:0086633",
- "HP:0002813",
- "UPHENO:0002945",
- "UPHENO:0002782",
- "UPHENO:0001003",
+ "UPHENO:0003015",
+ "UPHENO:0076723",
+ "UPHENO:0002905",
+ "HP:0034430",
+ "HP:0000924",
+ "UPHENO:0076727",
+ "UPHENO:0002976",
+ "UBERON:0002102",
+ "UBERON:0002389",
+ "UBERON:0001460",
+ "UBERON:0010740",
+ "UBERON:0002513",
+ "UBERON:0002529",
+ "UBERON:0003657",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "UBERON:0034925",
+ "UBERON:0011216",
+ "UBERON:0034921",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UPHENO:0002530",
+ "UPHENO:0081440",
"UPHENO:0086635",
- "UPHENO:0002267",
- "UPHENO:0002926",
- "UPHENO:0086700",
- "UPHENO:0079876",
- "HP:0011843",
- "UBERON:0004120",
+ "UBERON:0004708",
+ "UBERON:0000475",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UBERON:0010363",
+ "UBERON:0011249",
+ "UBERON:0010538",
+ "UBERON:0010712",
+ "UBERON:0002091",
+ "UPHENO:0002861",
+ "HP:0001382",
+ "HP:0000118",
+ "UPHENO:0077419",
+ "UPHENO:0002643",
+ "BFO:0000002",
+ "UBERON:0000061",
"UBERON:0010708",
"UBERON:0005881",
- "UBERON:0002102",
"UBERON:0002470",
"UBERON:0008785",
"UBERON:0012139",
"UBERON:0003839",
- "UPHENO:0003066",
- "UPHENO:0077419",
- "UPHENO:0002643",
- "UPHENO:0005092",
- "UPHENO:0002554",
- "UBERON:0010758",
- "UBERON:0004765",
- "HP:0000001",
- "UPHENO:0003015",
- "UPHENO:0076723",
- "UPHENO:0002905",
- "HP:0034430",
- "HP:0000924",
- "UPHENO:0002816",
- "UPHENO:0004476",
+ "UPHENO:0002526",
+ "UPHENO:0076703",
+ "HP:0001167",
+ "UPHENO:0002708",
+ "UPHENO:0002945",
+ "UPHENO:0002782",
"UPHENO:0002536",
- "UPHENO:0076692",
- "UPHENO:0084761",
+ "UPHENO:0076943",
"HP:0430046",
"UPHENO:0002600",
- "BFO:0000002",
- "UBERON:0002204",
+ "UPHENO:0005092",
+ "UPHENO:0002554",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UBERON:0000467",
"UBERON:0011582",
"UBERON:0015061",
"UBERON:0004375",
- "UBERON:0002544",
- "UBERON:0004708",
- "UBERON:5002389",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "HP:0006094",
- "UPHENO:0002650",
- "UPHENO:0003799",
+ "UPHENO:0003095",
+ "UPHENO:0002964",
+ "UPHENO:0002632",
"UBERON:0005451",
"UBERON:0012140",
"UBERON:0012354",
"UBERON:0002398",
- "HP:0011729",
- "BFO:0000002",
- "UPHENO:0002870",
- "UPHENO:0002896",
- "UPHENO:0002648",
- "UBERON:0001062",
- "UBERON:0000061",
- "UBERON:0004905",
- "UBERON:0004381",
- "UBERON:0002428",
- "UPHENO:0002526",
+ "UBERON:0012141",
+ "UPHENO:0002963",
+ "UPHENO:0003066",
+ "UBERON:0000982",
+ "HP:0005922",
"UPHENO:0087006",
- "HP:0001155",
- "HP:0011842",
- "UPHENO:0003432",
- "UPHENO:0002733",
- "UPHENO:0076944",
"UPHENO:0002525",
- "RO:0002577",
- "UBERON:0011216",
- "UBERON:0034921",
- "UBERON:0011249",
- "UBERON:0010712",
- "UBERON:0002091",
- "UBERON:0000982",
- "UPHENO:0002746",
- "UPHENO:0003812",
- "UPHENO:0004909",
- "UPHENO:0002632",
- "UPHENO:0002568",
- "BFO:0000001",
- "HP:0002817",
- "UPHENO:0003514",
- "BFO:0000001",
- "UBERON:0004770",
+ "UBERON:0004120",
"UBERON:0004288",
- "UBERON:0000468",
+ "UBERON:0004770",
+ "UBERON:0002101",
+ "UBERON:0004710",
"UBERON:0000153",
"UBERON:0000026",
"UBERON:5002544",
- "UPHENO:0003095",
- "HP:0005922",
- "UPHENO:0003049",
- "UPHENO:0076727",
- "BFO:0000004",
- "UBERON:0006058",
- "UBERON:0001474",
- "UBERON:0010363",
- "UBERON:0010538",
- "UPHENO:0076703",
- "HP:0001167",
- "UPHENO:0002861",
- "UPHENO:0002949",
- "UPHENO:0081440",
- "UBERON:0034925",
- "UPHENO:0002593",
- "UPHENO:0003005",
- "HP:0040068",
+ "HP:0011729",
+ "UPHENO:0002559",
+ "UPHENO:0002983",
+ "UPHENO:0002870",
+ "UPHENO:0002896",
+ "UPHENO:0002568",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002816",
+ "UPHENO:0004476",
+ "UPHENO:0002733",
+ "UPHENO:0076692",
+ "UPHENO:0084761",
"UPHENO:0002385",
"UPHENO:0002880",
"UPHENO:0002830",
+ "UPHENO:0076944",
"UBERON:0000465",
+ "UBERON:0010758",
+ "UBERON:0004765",
+ "UPHENO:0076740",
+ "UPHENO:0002593",
+ "HP:0002817",
+ "UPHENO:0003065",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0010707",
+ "UBERON:0004381",
+ "UBERON:0002428",
+ "UBERON:0001434",
+ "UPHENO:0001002",
+ "UPHENO:0003049",
+ "PATO:0000001",
+ "HP:0040068",
"UBERON:0015212",
- "UBERON:0012141",
+ "UBERON:0002204",
+ "UBERON:0002544",
+ "UBERON:5002389",
+ "UBERON:0006058",
+ "UBERON:0001474",
+ "UPHENO:0086633",
"UPHENO:0077421",
- "UPHENO:0005214",
"UPHENO:0084763",
- "BFO:0000020",
- "UPHENO:0076943",
+ "UPHENO:0003005",
"UPHENO:0084448",
- "UPHENO:0002976",
- "UBERON:0002389",
- "UBERON:0002101",
- "UPHENO:0002944",
- "UPHENO:0002708",
- "HP:0006256",
- "UPHENO:0002963",
- "HP:0040064",
+ "HP:0011844",
+ "UPHENO:0086700",
+ "UPHENO:0079876",
+ "HP:0011843",
+ "HP:0001155",
+ "HP:0011842",
+ "HP:0006094",
+ "BFO:0000040",
"UBERON:0000075",
"UBERON:0000383",
"UBERON:0001015",
- "UBERON:0001434",
- "UPHENO:0003227",
- "HP:0001382",
- "UPHENO:0002559",
- "UPHENO:0081581",
- "HP:0033127",
- "UPHENO:0003065",
- "BFO:0000040",
- "UBERON:0010000",
- "UBERON:0000467",
- "UBERON:0000475",
- "UBERON:0000062",
- "UBERON:0004710",
- "UBERON:0010740",
- "UBERON:0002513",
- "UBERON:0001460",
- "UBERON:0002529",
- "UBERON:0003657",
- "UPHENO:0002983",
- "UPHENO:0002964",
- "HP:0011844",
- "PATO:0000001",
- "UPHENO:0082875",
+ "UBERON:0010912",
+ "UBERON:0004905",
"UPHENO:0002269",
- "UPHENO:0002731",
- "HP:0000118",
- "UPHENO:0002530",
+ "HP:0006256",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "HP:0040064",
+ "UPHENO:0002944",
+ "UPHENO:0082875",
+ "HP:0002813",
+ "UPHENO:0001003",
"HP:0011297",
"UPHENO:0002586",
- "UBERON:0010707",
- "UBERON:0010912",
+ "BFO:0000001",
+ "PR:000050567",
+ "RO:0002577",
],
"object_label": "Finger joint hypermobility",
"object_closure_label": [
- "All",
- "articulation phenotype",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal joint physiology",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "limb bone phenotype",
- "musculature of body phenotype",
- "autopodial extension phenotype",
- "anatomical structure",
- "organism subdivision",
- "organ",
- "digit",
- "paired limb/fin",
- "manual digit plus metapodial segment",
- "skeleton of limb phenotype",
- "Joint hypermobility",
- "skeletal element phenotype",
- "Abnormality of hand joint mobility",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
- "organ system subdivision",
- "multi organ part structure",
- "appendicular skeletal system",
- "limb skeleton subdivision",
- "appendicular skeleton",
- "skeletal joint",
- "phenotype",
- "phenotypic effect",
- "Finger joint hypermobility",
- "musculature phenotype",
- "manual digit phenotype",
- "Abnormality of limbs",
- "material entity",
+ "forelimb morphology phenotype",
+ "increased skeletal joint mobility",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus phenotype",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormal appendicular skeleton morphology",
"multicellular anatomical structure",
"anatomical system",
- "subdivision of organism along appendicular axis",
- "skeletal element",
- "pectoral appendage",
+ "paired limb/fin skeleton",
+ "limb endochondral element",
+ "bone of free limb or fin",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "entity",
+ "lateral structure",
+ "forelimb",
+ "manual digit",
+ "arm",
"bone of appendage girdle complex",
"endochondral bone",
- "arm",
"limb segment",
"limb joint",
- "Abnormality of the upper limb",
- "pectoral appendage phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "arm phenotype",
+ "limb phenotype",
+ "skeletal joint mobility phenotype",
+ "paired limb/fin",
+ "organ system subdivision",
+ "multi organ part structure",
+ "skeletal joint",
+ "articulation phenotype",
+ "manus morphology phenotype",
+ "digit phenotype",
+ "Abnormal joint physiology",
+ "Abnormality of the skeletal system",
+ "increased anatomical entity mobility",
+ "multi organ part structure phenotype",
"paired limb/fin segment phenotype",
- "material anatomical entity",
- "multicellular organism",
- "forelimb",
- "autopod region",
- "upper limb segment",
- "segment of autopod",
- "forelimb joint",
- "endochondral bone phenotype",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "manual digit morphology in the manus phenotype",
- "Small joint hypermobilty",
- "limb endochondral element phenotype",
+ "entity",
"anatomical collection",
+ "skeleton of limb",
+ "limb bone",
+ "skeletal system",
"segment of manus",
"digitopodium region",
"acropodium region",
"manus",
- "Abnormal hand morphology",
- "continuant",
+ "manual digitopodium region",
+ "specifically dependent continuant",
"multicellular organism morphology phenotype",
"Abnormality of the musculoskeletal system",
- "entity",
- "lateral structure",
- "articulation",
- "skeleton of limb",
- "limb bone",
- "skeletal system morphology phenotype",
- "Abnormal finger morphology",
- "appendage phenotype",
+ "organ system subdivision phenotype",
+ "Abnormality of the hand",
+ "Abnormal skeletal morphology",
+ "Finger joint hypermobility",
+ "anatomical entity",
+ "mesoderm-derived structure",
+ "skeleton",
+ "articular system",
+ "limb",
+ "pectoral appendage",
+ "autopod region",
+ "upper limb segment",
+ "segment of autopod",
+ "forelimb joint",
+ "Abnormality of joint mobility",
+ "Abnormality of the upper limb",
"taxon specific phenotype",
+ "Abnormal digit morphology",
+ "upper limb segment phenotype",
"digit morphology phenotype",
"anatomical entity morphology in the pectoral complex phenotype",
"Abnormal musculoskeletal physiology",
- "pectoral complex",
- "autopodial extension",
+ "anatomical structure",
+ "subdivision of organism along appendicular axis",
+ "skeletal element",
+ "limb segment phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "skeletal joint phenotype",
+ "autopodial extension phenotype",
+ "anatomical entity morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "organism subdivision",
+ "organ",
+ "multicellular organism",
+ "digit",
+ "manual digit plus metapodial segment",
"multi-limb segment region",
"bone element",
- "endochondral element",
- "paired limb/fin segment",
- "subdivision of organism along appendicular axis phenotype",
- "autopod region morphology phenotype",
- "Abnormality of the hand",
- "Abnormal skeletal morphology",
- "paired limb/fin phenotype",
- "autopod region phenotype",
- "anatomical entity phenotype",
- "Abnormal digit morphology",
- "upper limb segment phenotype",
- "skeletal joint mobility phenotype",
+ "musculature phenotype",
+ "manual digit phenotype",
"anatomical structure phenotype",
- "subdivision of skeleton",
- "appendicular skeleton morphology phenotype",
- "manus phenotype",
- "skeletal system phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system physiology phenotype",
- "manual digit",
- "limb",
- "limb segment phenotype",
- "increased skeletal joint mobility",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "material anatomical entity",
+ "appendage phenotype",
+ "Joint hypermobility",
"endochondral element phenotype",
+ "multi-limb segment region phenotype",
"quality",
- "musculoskeletal system",
- "paired limb/fin skeleton",
- "limb endochondral element",
- "bone of free limb or fin",
- "anatomical entity physiology phenotype",
- "anatomical system physiology phenotype",
- "limb morphology phenotype",
+ "Abnormality of limb bone",
+ "pectoral complex",
+ "autopodial extension",
+ "Phenotypic abnormality",
+ "limb bone morphology phenotype",
+ "Small joint hypermobilty",
+ "limb endochondral element phenotype",
+ "musculoskeletal system phenotype",
+ "mesoderm-derived structure phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "protein-containing material entity",
+ "system",
+ "endochondral element",
+ "appendicular skeletal system",
+ "paired limb/fin segment",
+ "limb skeleton subdivision",
+ "appendicular skeleton",
+ "All",
+ "continuant",
+ "Abnormality of hand joint mobility",
"material anatomical entity physiology phenotype",
"organism subdivision phenotype",
- "independent continuant",
+ "Abnormality of limbs",
+ "material entity",
+ "musculoskeletal system",
"anterior region of body",
"appendage",
"digit plus metapodial segment",
- "Abnormal limb bone morphology",
- "skeletal joint phenotype",
- "increased anatomical entity mobility",
- "multi organ part structure phenotype",
- "multi-limb segment region phenotype",
- "limb bone morphology phenotype",
- "organ system subdivision phenotype",
- "entity",
- "manual digitopodium region",
- "bone of appendage girdle complex phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "anatomical entity",
- "appendage girdle complex",
- "organ phenotype",
- "forelimb phenotype",
- "forelimb morphology phenotype",
- "appendicular skeleton phenotype",
- "limb skeleton subdivision phenotype",
- "bone of free limb or fin phenotype",
- "articular system",
- "skeleton",
+ "phenotype",
+ "Abnormal hand morphology",
+ "autopod region morphology phenotype",
+ "bone element phenotype",
+ "limb bone phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
"subdivision of skeletal system",
"musculature of body",
"musculature",
- "skeletal system",
- "subdivision of skeletal system phenotype",
+ "subdivision of skeleton",
+ "articulation",
+ "appendicular skeleton morphology phenotype",
+ "bone of appendage girdle complex phenotype",
+ "skeletal element phenotype",
+ "endochondral bone phenotype",
+ "skeletal system phenotype",
+ "bone of free limb or fin phenotype",
+ "musculoskeletal system physiology phenotype",
+ "limb morphology phenotype",
+ "organ phenotype",
+ "skeletal system morphology phenotype",
+ "Abnormal finger morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity phenotype",
"anatomical entity mobility phenotype",
- "anatomical entity morphology in the manus phenotype",
- "musculoskeletal system phenotype",
- "mesoderm-derived structure phenotype",
- "mesoderm-derived structure",
- "Abnormality of joint mobility",
- "lateral structure phenotype",
- "Phenotypic abnormality",
- "subdivision of skeleton phenotype",
- "anatomical collection phenotype",
- "Abnormality of limb bone",
- "anatomical structure physiology phenotype",
- "arm phenotype",
- "limb phenotype",
- "system",
+ "continuant",
+ "appendage girdle complex",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -457,32 +433,40 @@ def association_table():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
"direction": "outgoing",
},
{
@@ -493,57 +477,57 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder",
],
"subject_taxon": None,
"subject_taxon_label": None,
@@ -553,111 +537,105 @@ def association_table():
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "HP:0003808",
- "UPHENO:0002267",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
- "UPHENO:0002816",
- "UPHENO:0002536",
- "UBERON:0000465",
- "UBERON:0001630",
- "UBERON:0010000",
- "BFO:0000002",
- "UPHENO:0003022",
- "HP:0001252",
+ "UPHENO:0002976",
"UBERON:0001062",
+ "HP:0033127",
+ "BFO:0000001",
"UBERON:0000061",
- "UPHENO:0002526",
- "UPHENO:0003432",
- "UPHENO:0002525",
"UBERON:0000468",
"UBERON:0011216",
- "UPHENO:0002568",
- "BFO:0000001",
+ "HP:0001252",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "HP:0000118",
"UPHENO:0082555",
- "UPHENO:0001003",
+ "UPHENO:0002526",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
"BFO:0000001",
- "UPHENO:0003047",
- "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
"BFO:0000020",
- "UPHENO:0002359",
- "UPHENO:0002949",
- "BFO:0000002",
- "UPHENO:0002320",
+ "UPHENO:0003047",
+ "HP:0003011",
"UPHENO:0082557",
"UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "UPHENO:0002568",
+ "BFO:0000002",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002816",
"UPHENO:0002385",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "BFO:0000004",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "PATO:0000001",
+ "HP:0003808",
"UPHENO:0002386",
- "UPHENO:0002976",
- "UPHENO:0002963",
+ "BFO:0000040",
"UBERON:0000383",
"UBERON:0001015",
- "UPHENO:0001001",
- "HP:0033127",
- "BFO:0000040",
- "UBERON:0000467",
- "UBERON:0000062",
- "UPHENO:0001002",
- "HP:0003011",
- "PATO:0000001",
+ "UPHENO:0002267",
"UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530",
],
"object_label": "Hypotonia",
"object_closure_label": [
- "All",
- "muscle organ phenotype",
+ "Abnormal muscle tone",
+ "organ physiology phenotype",
+ "entity",
+ "anatomical system",
+ "muscle organ",
"Hypotonia",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "phenotype",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
+ "material anatomical entity phenotype",
+ "anatomical entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
"multicellular organism",
"organ system subdivision",
- "musculature phenotype",
- "material entity",
- "anatomical system",
- "decreased anatomical entity tone",
- "taxon specific phenotype",
- "material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
- "continuant",
+ "anatomical structure",
"Abnormality of the musculoskeletal system",
- "entity",
- "specifically dependent continuant",
- "muscle structure physiology phenotype",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
"decreased muscle organ tone",
"multicellular anatomical structure physiology phenotype",
- "anatomical entity phenotype",
+ "muscle structure",
+ "anatomical entity physiology phenotype",
+ "organ",
+ "phenotype",
+ "musculature phenotype",
"anatomical structure phenotype",
"material anatomical entity",
"quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "taxon specific phenotype",
+ "entity",
+ "continuant",
+ "All",
+ "continuant",
"material anatomical entity physiology phenotype",
+ "material entity",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
"independent continuant",
- "phenotypic effect",
- "Abnormality of the musculature",
- "organ system subdivision phenotype",
- "entity",
- "multicellular anatomical structure",
- "muscle organ physiology phenotype",
- "multicellular organism phenotype",
- "anatomical entity",
- "organ phenotype",
- "Abnormal muscle tone",
"musculature of body",
"musculature",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "anatomical entity phenotype",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -696,32 +674,40 @@ def association_table():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
"direction": "outgoing",
},
{
@@ -732,57 +718,57 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder",
],
"subject_taxon": None,
"subject_taxon_label": None,
@@ -792,173 +778,151 @@ def association_table():
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "HP:0025354",
+ "UPHENO:0079564",
+ "HP:0025461",
+ "UPHENO:0002530",
"UPHENO:0086457",
- "UPHENO:0076710",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "HP:0025354",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "UBERON:0011216",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0000118",
+ "BFO:0000001",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UBERON:0010000",
"UBERON:0000467",
+ "CL:0002242",
+ "CL:0000188",
+ "CL:0000183",
+ "UBERON:0001630",
+ "UBERON:0002385",
+ "CL:0000211",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "HP:0012084",
+ "CL:0002372",
+ "CL:0000737",
+ "UBERON:0001134",
+ "UPHENO:0087047",
+ "HP:0003011",
+ "UPHENO:0086462",
+ "UPHENO:0002525",
"CL:0000000",
"UBERON:0005090",
"UBERON:0018254",
"UBERON:0004120",
- "HP:0012084",
- "UPHENO:0002554",
- "BFO:0000040",
+ "UPHENO:0002568",
"HP:0000001",
"HP:0004303",
- "UPHENO:0079564",
- "HP:0025461",
+ "BFO:0000002",
"UPHENO:0002816",
"UPHENO:0076692",
"UPHENO:0077801",
- "BFO:0000002",
- "CL:0002242",
- "CL:0000188",
- "CL:0000183",
- "CL:0000211",
- "UBERON:0001630",
- "UBERON:0002385",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "UPHENO:0079562",
"UPHENO:0079572",
- "BFO:0000002",
- "UPHENO:0003022",
- "UBERON:0000061",
- "CL:0008002",
+ "UBERON:0000465",
+ "UPHENO:0002536",
+ "BFO:0000004",
"CL:0000228",
+ "CL:0008002",
"CL:0000187",
- "CL:0000393",
"UBERON:0014892",
"UBERON:0002036",
- "UPHENO:0002526",
- "HP:0011805",
- "UPHENO:0003432",
- "UPHENO:0002525",
- "RO:0002577",
- "UBERON:0011216",
- "CL:0002372",
- "CL:0000737",
- "UBERON:0001134",
- "UPHENO:0002568",
- "BFO:0000001",
- "UBERON:0000479",
- "UPHENO:0002720",
- "UPHENO:0002897",
- "UPHENO:0002536",
- "UBERON:0000468",
- "UPHENO:0087047",
- "UPHENO:0003047",
- "UPHENO:0002564",
- "BFO:0000004",
- "BFO:0000020",
- "UPHENO:0002949",
+ "CL:0000393",
+ "UPHENO:0001002",
+ "UPHENO:0079562",
"HP:0003557",
"UPHENO:0075195",
- "UPHENO:0086462",
- "UBERON:0000465",
- "UPHENO:0002976",
- "UPHENO:0086172",
- "UPHENO:0002963",
+ "UPHENO:0088180",
+ "HP:0011805",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000479",
"UBERON:0000383",
"UBERON:0001015",
- "UPHENO:0081581",
- "UPHENO:0003081",
- "HP:0033127",
+ "UPHENO:0076710",
+ "UPHENO:0086172",
"UPHENO:0001003",
"BFO:0000001",
- "UBERON:0001062",
- "UBERON:0010000",
- "UBERON:0000062",
- "HP:0003011",
- "UPHENO:0088180",
- "PATO:0000001",
- "HP:0000118",
- "UPHENO:0002530",
+ "RO:0002577",
],
"object_label": "Increased variability in muscle fiber diameter",
"object_closure_label": [
- "All",
- "Abnormal muscle fiber morphology",
- "morphology of cell of skeletal muscle phenotype",
- "Abnormal cell morphology",
- "muscle organ phenotype",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
+ "cell of skeletal muscle morphology phenotype",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nucleate cell",
+ "cell of skeletal muscle",
+ "contractile cell",
+ "muscle organ",
+ "muscle tissue",
+ "electrically active cell",
+ "entity",
+ "anatomical entity",
+ "phenotypic effect",
+ "morphology of myotube phenotype",
"organ system subdivision",
"myotube",
"striated muscle cell",
"skeletal muscle tissue",
- "phenotype",
- "phenotypic effect",
- "musculature phenotype",
- "morphology of muscle cell phenotype",
- "anatomical entity",
- "multicellular anatomical structure",
- "tissue",
- "muscle tissue phenotype",
- "skeletal muscle organ, vertebrate phenotype",
- "anatomical entity phenotype",
- "entity",
- "material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "size of cell phenotype",
- "skeletal muscle tissue morphology phenotype",
- "muscle structure phenotype",
- "continuant",
- "multicellular organism morphology phenotype",
- "skeletal musculature phenotype",
- "Abnormality of the musculoskeletal system",
- "taxon specific phenotype",
- "skeletal muscle fiber",
+ "morphology of cell of skeletal muscle phenotype",
+ "Abnormal cell morphology",
"multinucleate cell",
+ "skeletal muscle fiber",
"muscle cell",
- "electrically responsive cell",
"skeletal muscle organ, vertebrate",
"striated muscle tissue",
- "specifically dependent continuant",
- "size of skeletal muscle fiber phenotype",
+ "electrically responsive cell",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
"Abnormal skeletal muscle morphology",
- "anatomical structure phenotype",
- "cell of skeletal muscle morphology phenotype",
+ "Abnormality of the musculature",
+ "size of skeletal muscle fiber phenotype",
+ "cell",
+ "muscle structure",
+ "skeletal musculature",
+ "mesoderm-derived structure",
+ "taxon specific phenotype",
+ "anatomical structure",
"cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormality of skeletal muscle fiber size",
+ "anatomical entity morphology phenotype",
+ "size of cell phenotype",
+ "quality",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
"Increased variability in muscle fiber diameter",
"size of anatomical entity phenotype",
- "quality",
- "material entity",
- "nucleate cell",
- "cell of skeletal muscle",
- "contractile cell",
- "electrically active cell",
- "muscle organ",
- "muscle tissue",
+ "morphology of muscle cell phenotype",
+ "Phenotypic abnormality",
+ "material anatomical entity phenotype",
"size of cell of skeletal muscle phenotype",
+ "specifically dependent continuant",
+ "anatomical entity phenotype",
+ "system",
+ "All",
+ "Abnormal muscle fiber morphology",
+ "continuant",
"muscle organ morphology phenotype",
+ "material entity",
+ "skeletal muscle tissue morphology phenotype",
+ "multicellular anatomical structure phenotype",
"independent continuant",
- "Abnormal cellular phenotype",
- "Abnormality of the musculature",
- "Abnormality of skeletal muscle fiber size",
- "tissue phenotype",
- "organ system subdivision phenotype",
- "entity",
- "multicellular organism phenotype",
- "morphology of myotube phenotype",
- "organ phenotype",
+ "tissue",
"musculature of body",
"musculature",
- "mesoderm-derived structure phenotype",
- "anatomical system",
- "cell",
- "muscle structure",
- "skeletal musculature",
- "mesoderm-derived structure",
- "Phenotypic abnormality",
- "system",
+ "entity",
+ "continuant",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -995,32 +959,40 @@ def association_table():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
"direction": "outgoing",
},
{
@@ -1031,57 +1003,57 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder",
],
"subject_taxon": None,
"subject_taxon_label": None,
@@ -1091,83 +1063,79 @@ def association_table():
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0002267",
- "UBERON:0001016",
- "HP:0000001",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "BFO:0000001",
+ "UBERON:0000061",
+ "UBERON:0000468",
+ "UPHENO:0002530",
+ "HP:0001270",
+ "HP:0000118",
+ "UPHENO:0002433",
"UPHENO:0002536",
- "UBERON:0000465",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "HP:0012638",
+ "HP:0012758",
+ "UBERON:0000467",
"UBERON:0010000",
- "BFO:0000002",
- "UBERON:0000061",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UPHENO:0002963",
+ "UPHENO:0004523",
"UPHENO:0002525",
- "UBERON:0000468",
- "HP:0000707",
- "UPHENO:0002568",
- "BFO:0000001",
+ "BFO:0000002",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "UBERON:0000465",
"HP:0012759",
"UPHENO:0001003",
"BFO:0000001",
- "BFO:0000004",
- "UPHENO:0002949",
- "BFO:0000002",
- "UPHENO:0004523",
- "UPHENO:0002385",
- "BFO:0000020",
- "HP:0012758",
- "UPHENO:0002433",
- "UPHENO:0002963",
- "HP:0001270",
- "BFO:0000040",
- "UBERON:0001062",
- "UBERON:0000467",
+ "UPHENO:0001002",
+ "UBERON:0001016",
"PATO:0000001",
- "UPHENO:0082875",
"UPHENO:0002269",
- "HP:0000118",
- "UPHENO:0002530",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "BFO:0000004",
+ "UPHENO:0082875",
],
"object_label": "Motor delay",
- "object_closure_label": [
- "All",
- "anatomical structure",
- "Motor delay",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "multicellular organism",
- "phenotype",
- "phenotypic effect",
- "material entity",
- "anatomical entity",
+ "object_closure_label": [
+ "nervous system physiology phenotype",
+ "entity",
"anatomical system",
- "Neurodevelopmental abnormality",
- "taxon specific phenotype",
+ "anatomical system physiology phenotype",
"material anatomical entity phenotype",
- "continuant",
- "continuant",
+ "material entity",
+ "anatomical entity",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "multicellular organism",
"entity",
+ "anatomical structure",
"nervous system phenotype",
- "anatomical entity phenotype",
+ "Neurodevelopmental abnormality",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "quality",
+ "phenotype",
"anatomical structure phenotype",
"material anatomical entity",
- "nervous system physiology phenotype",
- "quality",
- "anatomical entity physiology phenotype",
- "anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "independent continuant",
- "entity",
+ "Motor delay",
+ "Phenotypic abnormality",
"multicellular anatomical structure",
"specifically dependent continuant",
- "multicellular organism phenotype",
- "Abnormal nervous system physiology",
+ "taxon specific phenotype",
+ "continuant",
+ "All",
+ "continuant",
"Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
"nervous system",
+ "independent continuant",
+ "anatomical entity phenotype",
"Neurodevelopmental delay",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -1204,32 +1172,40 @@ def association_table():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
"direction": "outgoing",
},
{
@@ -1240,63 +1216,63 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0024530",
- "MONDO:0016139",
- "MONDO:0700096",
- "MONDO:0003939",
"MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0100225",
- "MONDO:0020121",
"MONDO:0100545",
"MONDO:0002081",
+ "MONDO:0100225",
+ "MONDO:0019056",
+ "MONDO:0005336",
"MONDO:0002320",
+ "MONDO:0016106",
+ "BFO:0000002",
+ "MONDO:0024530",
+ "MONDO:0016139",
+ "BFO:0000001",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0020120",
+ "MONDO:0003847",
+ "MONDO:0008029",
+ "MONDO:0100546",
"MONDO:0019952",
"BFO:0000017",
- "MONDO:0003847",
+ "BFO:0000016",
+ "MONDO:0019950",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0020121",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_label": "Bethlem myopathy 1A",
"subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "progressive muscular dystrophy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "congenital nervous system disorder",
- "congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "collagen 6-related myopathy",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
"continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
"specifically dependent continuant",
- "collagen 6-related myopathy",
- "Bethlem myopathy 1A",
- "qualitative or quantitative protein defects in neuromuscular diseases",
+ "entity",
"human disease",
+ "Bethlem myopathy",
+ "skeletal muscle disorder",
"hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Bethlem myopathy 1A",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "congenital nervous system disorder",
],
"subject_taxon": None,
"subject_taxon_label": None,
@@ -1306,111 +1282,105 @@ def association_table():
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0080555",
- "UPHENO:0001003",
- "UPHENO:0002267",
- "UBERON:0000467",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
"HP:0001324",
- "UPHENO:0002816",
- "UPHENO:0002536",
- "UBERON:0001630",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "HP:0033127",
+ "UBERON:0011216",
"UPHENO:0001001",
- "UPHENO:0001002",
- "UBERON:0010000",
- "UPHENO:0003022",
+ "BFO:0000020",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0000118",
"UBERON:0000061",
- "HP:0003701",
- "UPHENO:0003432",
- "UPHENO:0002525",
- "UBERON:0011216",
+ "UPHENO:0002526",
+ "UPHENO:0080555",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
"UPHENO:0080556",
- "UPHENO:0002568",
- "BFO:0000001",
"BFO:0000001",
- "UBERON:0000468",
+ "UBERON:0010000",
"UPHENO:0003047",
- "BFO:0000004",
- "UPHENO:0002526",
+ "HP:0003701",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
"UPHENO:0002359",
- "UPHENO:0002949",
+ "UPHENO:0003022",
+ "UPHENO:0002568",
"BFO:0000002",
- "UPHENO:0002320",
+ "HP:0000001",
"BFO:0000002",
- "UPHENO:0002308",
+ "UPHENO:0002816",
"UPHENO:0002385",
"UBERON:0000465",
- "BFO:0000020",
+ "BFO:0000004",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
"UPHENO:0002386",
- "UPHENO:0002976",
- "UPHENO:0002963",
+ "PATO:0000001",
"UBERON:0000383",
"UBERON:0001015",
- "HP:0033127",
- "BFO:0000040",
- "UBERON:0001062",
- "UBERON:0000062",
- "HP:0003011",
- "PATO:0000001",
+ "UPHENO:0002267",
"UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530",
+ "UPHENO:0001003",
+ "BFO:0000001",
],
"object_label": "Proximal muscle weakness",
"object_closure_label": [
- "All",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "entity",
+ "material entity",
+ "anatomical entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "organ system subdivision",
"Muscle weakness",
- "muscle organ phenotype",
- "musculature of body phenotype",
+ "specifically dependent continuant",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "taxon specific phenotype",
"anatomical structure",
+ "anatomical entity physiology phenotype",
+ "quality",
"organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "organ system subdivision",
- "phenotype",
- "phenotypic effect",
+ "multicellular organism",
"musculature phenotype",
- "material entity",
- "anatomical entity",
+ "anatomical structure phenotype",
"material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "entity",
+ "continuant",
+ "All",
"continuant",
+ "material anatomical entity physiology phenotype",
+ "phenotype",
"muscle structure phenotype",
- "Abnormality of the musculoskeletal system",
- "entity",
- "organ phenotype",
- "muscle structure physiology phenotype",
- "taxon specific phenotype",
- "multicellular anatomical structure physiology phenotype",
"Proximal muscle weakness",
- "decreased anatomical entity strength",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
"independent continuant",
- "Abnormality of the musculature",
- "organ system subdivision phenotype",
- "entity",
- "multicellular anatomical structure",
- "muscle organ physiology phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "decreased muscle organ strength",
"musculature of body",
"musculature",
- "continuant",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "anatomical system",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "decreased muscle organ strength",
+ "organ phenotype",
+ "anatomical entity phenotype",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -1446,35 +1416,41 @@ def association_table():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
"direction": "outgoing",
},
],
- "facet_fields": [],
- "facet_queries": [],
}
diff --git a/backend/tests/fixtures/association_table_response.py b/backend/tests/fixtures/association_table_response.py
index d34af18d8..ec3c6100e 100644
--- a/backend/tests/fixtures/association_table_response.py
+++ b/backend/tests/fixtures/association_table_response.py
@@ -17,14 +17,13 @@ def association_table_response():
"category:biolink\\:DiseaseToPhenotypicFeatureAssociation",
'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121"',
],
- "facet.mincount": "1",
"sort": "frequency_computed_sortable_float desc, evidence_count desc, subject_label asc, predicate asc, object_label asc, primary_knowledge_source asc",
"rows": "5",
"facet": "true",
},
},
"response": {
- "num_found": 4082,
+ "num_found": 4115,
"start": 0,
"docs": [
{
@@ -56,403 +55,379 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder",
],
"object_label": "Finger joint hypermobility",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "UPHENO:0076740",
- "UPHENO:0003415",
- "UPHENO:0086633",
- "HP:0002813",
- "UPHENO:0002945",
- "UPHENO:0002782",
- "UPHENO:0001003",
+ "UPHENO:0003015",
+ "UPHENO:0076723",
+ "UPHENO:0002905",
+ "HP:0034430",
+ "HP:0000924",
+ "UPHENO:0076727",
+ "UPHENO:0002976",
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+ "UBERON:0002389",
+ "UBERON:0001460",
+ "UBERON:0010740",
+ "UBERON:0002513",
+ "UBERON:0002529",
+ "UBERON:0003657",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "UBERON:0034925",
+ "UBERON:0011216",
+ "UBERON:0034921",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UPHENO:0002530",
+ "UPHENO:0081440",
"UPHENO:0086635",
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- "UPHENO:0002926",
- "UPHENO:0086700",
- "UPHENO:0079876",
- "HP:0011843",
- "UBERON:0004120",
+ "UBERON:0004708",
+ "UBERON:0000475",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UBERON:0010363",
+ "UBERON:0011249",
+ "UBERON:0010538",
+ "UBERON:0010712",
+ "UBERON:0002091",
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+ "HP:0001382",
+ "HP:0000118",
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+ "UPHENO:0002643",
+ "BFO:0000002",
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- "UPHENO:0002905",
- "HP:0034430",
- "HP:0000924",
- "UPHENO:0002816",
- "UPHENO:0004476",
+ "UPHENO:0002526",
+ "UPHENO:0076703",
+ "HP:0001167",
+ "UPHENO:0002708",
+ "UPHENO:0002945",
+ "UPHENO:0002782",
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- "UPHENO:0076692",
- "UPHENO:0084761",
+ "UPHENO:0076943",
"HP:0430046",
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+ "UPHENO:0005092",
+ "UPHENO:0002554",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UBERON:0000467",
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- "UPHENO:0001001",
- "UPHENO:0001002",
- "HP:0006094",
- "UPHENO:0002650",
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+ "UPHENO:0003095",
+ "UPHENO:0002964",
+ "UPHENO:0002632",
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"UBERON:0012354",
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- "UBERON:0000061",
- "UBERON:0004905",
- "UBERON:0004381",
- "UBERON:0002428",
- "UPHENO:0002526",
+ "UBERON:0012141",
+ "UPHENO:0002963",
+ "UPHENO:0003066",
+ "UBERON:0000982",
+ "HP:0005922",
"UPHENO:0087006",
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- "HP:0011842",
- "UPHENO:0003432",
- "UPHENO:0002733",
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"UPHENO:0002525",
- "RO:0002577",
- "UBERON:0011216",
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- "UBERON:0000982",
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- "UPHENO:0002568",
- "BFO:0000001",
- "HP:0002817",
- "UPHENO:0003514",
- "BFO:0000001",
- "UBERON:0004770",
+ "UBERON:0004120",
"UBERON:0004288",
- "UBERON:0000468",
+ "UBERON:0004770",
+ "UBERON:0002101",
+ "UBERON:0004710",
"UBERON:0000153",
"UBERON:0000026",
"UBERON:5002544",
- "UPHENO:0003095",
- "HP:0005922",
- "UPHENO:0003049",
- "UPHENO:0076727",
- "BFO:0000004",
- "UBERON:0006058",
- "UBERON:0001474",
- "UBERON:0010363",
- "UBERON:0010538",
- "UPHENO:0076703",
- "HP:0001167",
- "UPHENO:0002861",
- "UPHENO:0002949",
- "UPHENO:0081440",
- "UBERON:0034925",
- "UPHENO:0002593",
- "UPHENO:0003005",
- "HP:0040068",
+ "HP:0011729",
+ "UPHENO:0002559",
+ "UPHENO:0002983",
+ "UPHENO:0002870",
+ "UPHENO:0002896",
+ "UPHENO:0002568",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002816",
+ "UPHENO:0004476",
+ "UPHENO:0002733",
+ "UPHENO:0076692",
+ "UPHENO:0084761",
"UPHENO:0002385",
"UPHENO:0002880",
"UPHENO:0002830",
+ "UPHENO:0076944",
"UBERON:0000465",
+ "UBERON:0010758",
+ "UBERON:0004765",
+ "UPHENO:0076740",
+ "UPHENO:0002593",
+ "HP:0002817",
+ "UPHENO:0003065",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0010707",
+ "UBERON:0004381",
+ "UBERON:0002428",
+ "UBERON:0001434",
+ "UPHENO:0001002",
+ "UPHENO:0003049",
+ "PATO:0000001",
+ "HP:0040068",
"UBERON:0015212",
- "UBERON:0012141",
+ "UBERON:0002204",
+ "UBERON:0002544",
+ "UBERON:5002389",
+ "UBERON:0006058",
+ "UBERON:0001474",
+ "UPHENO:0086633",
"UPHENO:0077421",
- "UPHENO:0005214",
"UPHENO:0084763",
- "BFO:0000020",
- "UPHENO:0076943",
+ "UPHENO:0003005",
"UPHENO:0084448",
- "UPHENO:0002976",
- "UBERON:0002389",
- "UBERON:0002101",
- "UPHENO:0002944",
- "UPHENO:0002708",
- "HP:0006256",
- "UPHENO:0002963",
- "HP:0040064",
+ "HP:0011844",
+ "UPHENO:0086700",
+ "UPHENO:0079876",
+ "HP:0011843",
+ "HP:0001155",
+ "HP:0011842",
+ "HP:0006094",
+ "BFO:0000040",
"UBERON:0000075",
"UBERON:0000383",
"UBERON:0001015",
- "UBERON:0001434",
- "UPHENO:0003227",
- "HP:0001382",
- "UPHENO:0002559",
- "UPHENO:0081581",
- "HP:0033127",
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- "BFO:0000040",
- "UBERON:0010000",
- "UBERON:0000467",
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- "UBERON:0003657",
- "UPHENO:0002983",
- "UPHENO:0002964",
- "HP:0011844",
- "PATO:0000001",
- "UPHENO:0082875",
+ "UBERON:0010912",
+ "UBERON:0004905",
"UPHENO:0002269",
- "UPHENO:0002731",
- "HP:0000118",
- "UPHENO:0002530",
+ "HP:0006256",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "HP:0040064",
+ "UPHENO:0002944",
+ "UPHENO:0082875",
+ "HP:0002813",
+ "UPHENO:0001003",
"HP:0011297",
"UPHENO:0002586",
- "UBERON:0010707",
- "UBERON:0010912",
+ "BFO:0000001",
+ "PR:000050567",
+ "RO:0002577",
],
"object_closure_label": [
- "All",
- "articulation phenotype",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal joint physiology",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "limb bone phenotype",
- "musculature of body phenotype",
- "autopodial extension phenotype",
- "anatomical structure",
- "organism subdivision",
- "organ",
- "digit",
- "paired limb/fin",
- "manual digit plus metapodial segment",
- "skeleton of limb phenotype",
- "Joint hypermobility",
- "skeletal element phenotype",
- "Abnormality of hand joint mobility",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
- "organ system subdivision",
- "multi organ part structure",
- "appendicular skeletal system",
- "limb skeleton subdivision",
- "appendicular skeleton",
- "skeletal joint",
- "phenotype",
- "phenotypic effect",
- "Finger joint hypermobility",
- "musculature phenotype",
- "manual digit phenotype",
- "Abnormality of limbs",
- "material entity",
+ "forelimb morphology phenotype",
+ "increased skeletal joint mobility",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus phenotype",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormal appendicular skeleton morphology",
"multicellular anatomical structure",
"anatomical system",
- "subdivision of organism along appendicular axis",
- "skeletal element",
- "pectoral appendage",
+ "paired limb/fin skeleton",
+ "limb endochondral element",
+ "bone of free limb or fin",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "entity",
+ "lateral structure",
+ "forelimb",
+ "manual digit",
+ "arm",
"bone of appendage girdle complex",
"endochondral bone",
- "arm",
"limb segment",
"limb joint",
- "Abnormality of the upper limb",
- "pectoral appendage phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "arm phenotype",
+ "limb phenotype",
+ "skeletal joint mobility phenotype",
+ "paired limb/fin",
+ "organ system subdivision",
+ "multi organ part structure",
+ "skeletal joint",
+ "articulation phenotype",
+ "manus morphology phenotype",
+ "digit phenotype",
+ "Abnormal joint physiology",
+ "Abnormality of the skeletal system",
+ "increased anatomical entity mobility",
+ "multi organ part structure phenotype",
"paired limb/fin segment phenotype",
- "material anatomical entity",
- "multicellular organism",
- "forelimb",
- "autopod region",
- "upper limb segment",
- "segment of autopod",
- "forelimb joint",
- "endochondral bone phenotype",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "manual digit morphology in the manus phenotype",
- "Small joint hypermobilty",
- "limb endochondral element phenotype",
+ "entity",
"anatomical collection",
+ "skeleton of limb",
+ "limb bone",
+ "skeletal system",
"segment of manus",
"digitopodium region",
"acropodium region",
"manus",
- "Abnormal hand morphology",
- "continuant",
+ "manual digitopodium region",
+ "specifically dependent continuant",
"multicellular organism morphology phenotype",
"Abnormality of the musculoskeletal system",
- "entity",
- "lateral structure",
- "articulation",
- "skeleton of limb",
- "limb bone",
- "skeletal system morphology phenotype",
- "Abnormal finger morphology",
- "appendage phenotype",
+ "organ system subdivision phenotype",
+ "Abnormality of the hand",
+ "Abnormal skeletal morphology",
+ "Finger joint hypermobility",
+ "anatomical entity",
+ "mesoderm-derived structure",
+ "skeleton",
+ "articular system",
+ "limb",
+ "pectoral appendage",
+ "autopod region",
+ "upper limb segment",
+ "segment of autopod",
+ "forelimb joint",
+ "Abnormality of joint mobility",
+ "Abnormality of the upper limb",
"taxon specific phenotype",
+ "Abnormal digit morphology",
+ "upper limb segment phenotype",
"digit morphology phenotype",
"anatomical entity morphology in the pectoral complex phenotype",
"Abnormal musculoskeletal physiology",
- "pectoral complex",
- "autopodial extension",
+ "anatomical structure",
+ "subdivision of organism along appendicular axis",
+ "skeletal element",
+ "limb segment phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "skeletal joint phenotype",
+ "autopodial extension phenotype",
+ "anatomical entity morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "organism subdivision",
+ "organ",
+ "multicellular organism",
+ "digit",
+ "manual digit plus metapodial segment",
"multi-limb segment region",
"bone element",
- "endochondral element",
- "paired limb/fin segment",
- "subdivision of organism along appendicular axis phenotype",
- "autopod region morphology phenotype",
- "Abnormality of the hand",
- "Abnormal skeletal morphology",
- "paired limb/fin phenotype",
- "autopod region phenotype",
- "anatomical entity phenotype",
- "Abnormal digit morphology",
- "upper limb segment phenotype",
- "skeletal joint mobility phenotype",
+ "musculature phenotype",
+ "manual digit phenotype",
"anatomical structure phenotype",
- "subdivision of skeleton",
- "appendicular skeleton morphology phenotype",
- "manus phenotype",
- "skeletal system phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system physiology phenotype",
- "manual digit",
- "limb",
- "limb segment phenotype",
- "increased skeletal joint mobility",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "material anatomical entity",
+ "appendage phenotype",
+ "Joint hypermobility",
"endochondral element phenotype",
+ "multi-limb segment region phenotype",
"quality",
- "musculoskeletal system",
- "paired limb/fin skeleton",
- "limb endochondral element",
- "bone of free limb or fin",
- "anatomical entity physiology phenotype",
- "anatomical system physiology phenotype",
- "limb morphology phenotype",
+ "Abnormality of limb bone",
+ "pectoral complex",
+ "autopodial extension",
+ "Phenotypic abnormality",
+ "limb bone morphology phenotype",
+ "Small joint hypermobilty",
+ "limb endochondral element phenotype",
+ "musculoskeletal system phenotype",
+ "mesoderm-derived structure phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "protein-containing material entity",
+ "system",
+ "endochondral element",
+ "appendicular skeletal system",
+ "paired limb/fin segment",
+ "limb skeleton subdivision",
+ "appendicular skeleton",
+ "All",
+ "continuant",
+ "Abnormality of hand joint mobility",
"material anatomical entity physiology phenotype",
"organism subdivision phenotype",
- "independent continuant",
+ "Abnormality of limbs",
+ "material entity",
+ "musculoskeletal system",
"anterior region of body",
"appendage",
"digit plus metapodial segment",
- "Abnormal limb bone morphology",
- "skeletal joint phenotype",
- "increased anatomical entity mobility",
- "multi organ part structure phenotype",
- "multi-limb segment region phenotype",
- "limb bone morphology phenotype",
- "organ system subdivision phenotype",
- "entity",
- "manual digitopodium region",
- "bone of appendage girdle complex phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "anatomical entity",
- "appendage girdle complex",
- "organ phenotype",
- "forelimb phenotype",
- "forelimb morphology phenotype",
- "appendicular skeleton phenotype",
- "limb skeleton subdivision phenotype",
- "bone of free limb or fin phenotype",
- "articular system",
- "skeleton",
+ "phenotype",
+ "Abnormal hand morphology",
+ "autopod region morphology phenotype",
+ "bone element phenotype",
+ "limb bone phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
"subdivision of skeletal system",
"musculature of body",
"musculature",
- "skeletal system",
- "subdivision of skeletal system phenotype",
+ "subdivision of skeleton",
+ "articulation",
+ "appendicular skeleton morphology phenotype",
+ "bone of appendage girdle complex phenotype",
+ "skeletal element phenotype",
+ "endochondral bone phenotype",
+ "skeletal system phenotype",
+ "bone of free limb or fin phenotype",
+ "musculoskeletal system physiology phenotype",
+ "limb morphology phenotype",
+ "organ phenotype",
+ "skeletal system morphology phenotype",
+ "Abnormal finger morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity phenotype",
"anatomical entity mobility phenotype",
- "anatomical entity morphology in the manus phenotype",
- "musculoskeletal system phenotype",
- "mesoderm-derived structure phenotype",
- "mesoderm-derived structure",
- "Abnormality of joint mobility",
- "lateral structure phenotype",
- "Phenotypic abnormality",
- "subdivision of skeleton phenotype",
- "anatomical collection phenotype",
- "Abnormality of limb bone",
- "anatomical structure physiology phenotype",
- "arm phenotype",
- "limb phenotype",
- "system",
+ "continuant",
+ "appendage girdle complex",
],
"evidence_count": 6,
"grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0006094",
@@ -486,165 +461,159 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder",
],
"object_label": "Hypotonia",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "HP:0003808",
- "UPHENO:0002267",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
- "UPHENO:0002816",
- "UPHENO:0002536",
- "UBERON:0000465",
- "UBERON:0001630",
- "UBERON:0010000",
- "BFO:0000002",
- "UPHENO:0003022",
- "HP:0001252",
+ "UPHENO:0002976",
"UBERON:0001062",
+ "HP:0033127",
+ "BFO:0000001",
"UBERON:0000061",
- "UPHENO:0002526",
- "UPHENO:0003432",
- "UPHENO:0002525",
"UBERON:0000468",
"UBERON:0011216",
- "UPHENO:0002568",
- "BFO:0000001",
+ "HP:0001252",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "HP:0000118",
"UPHENO:0082555",
- "UPHENO:0001003",
+ "UPHENO:0002526",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
"BFO:0000001",
- "UPHENO:0003047",
- "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
"BFO:0000020",
- "UPHENO:0002359",
- "UPHENO:0002949",
- "BFO:0000002",
- "UPHENO:0002320",
+ "UPHENO:0003047",
+ "HP:0003011",
"UPHENO:0082557",
"UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "UPHENO:0002568",
+ "BFO:0000002",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002816",
"UPHENO:0002385",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "BFO:0000004",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "PATO:0000001",
+ "HP:0003808",
"UPHENO:0002386",
- "UPHENO:0002976",
- "UPHENO:0002963",
+ "BFO:0000040",
"UBERON:0000383",
"UBERON:0001015",
- "UPHENO:0001001",
- "HP:0033127",
- "BFO:0000040",
- "UBERON:0000467",
- "UBERON:0000062",
- "UPHENO:0001002",
- "HP:0003011",
- "PATO:0000001",
+ "UPHENO:0002267",
"UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530",
],
"object_closure_label": [
- "All",
- "muscle organ phenotype",
+ "Abnormal muscle tone",
+ "organ physiology phenotype",
+ "entity",
+ "anatomical system",
+ "muscle organ",
"Hypotonia",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "phenotype",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
+ "material anatomical entity phenotype",
+ "anatomical entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
"multicellular organism",
"organ system subdivision",
- "musculature phenotype",
- "material entity",
- "anatomical system",
- "decreased anatomical entity tone",
- "taxon specific phenotype",
- "material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
- "continuant",
+ "anatomical structure",
"Abnormality of the musculoskeletal system",
- "entity",
- "specifically dependent continuant",
- "muscle structure physiology phenotype",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
"decreased muscle organ tone",
"multicellular anatomical structure physiology phenotype",
- "anatomical entity phenotype",
+ "muscle structure",
+ "anatomical entity physiology phenotype",
+ "organ",
+ "phenotype",
+ "musculature phenotype",
"anatomical structure phenotype",
"material anatomical entity",
"quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "taxon specific phenotype",
+ "entity",
+ "continuant",
+ "All",
+ "continuant",
"material anatomical entity physiology phenotype",
+ "material entity",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
"independent continuant",
- "phenotypic effect",
- "Abnormality of the musculature",
- "organ system subdivision phenotype",
- "entity",
- "multicellular anatomical structure",
- "muscle organ physiology phenotype",
- "multicellular organism phenotype",
- "anatomical entity",
- "organ phenotype",
- "Abnormal muscle tone",
"musculature of body",
"musculature",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "anatomical entity phenotype",
],
"evidence_count": 6,
"grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001252",
@@ -672,227 +641,205 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder",
],
"object_label": "Increased variability in muscle fiber diameter",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "HP:0025354",
+ "UPHENO:0079564",
+ "HP:0025461",
+ "UPHENO:0002530",
"UPHENO:0086457",
- "UPHENO:0076710",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "HP:0025354",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "UBERON:0011216",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0000118",
+ "BFO:0000001",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UBERON:0010000",
"UBERON:0000467",
+ "CL:0002242",
+ "CL:0000188",
+ "CL:0000183",
+ "UBERON:0001630",
+ "UBERON:0002385",
+ "CL:0000211",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "HP:0012084",
+ "CL:0002372",
+ "CL:0000737",
+ "UBERON:0001134",
+ "UPHENO:0087047",
+ "HP:0003011",
+ "UPHENO:0086462",
+ "UPHENO:0002525",
"CL:0000000",
"UBERON:0005090",
"UBERON:0018254",
"UBERON:0004120",
- "HP:0012084",
- "UPHENO:0002554",
- "BFO:0000040",
+ "UPHENO:0002568",
"HP:0000001",
"HP:0004303",
- "UPHENO:0079564",
- "HP:0025461",
+ "BFO:0000002",
"UPHENO:0002816",
"UPHENO:0076692",
"UPHENO:0077801",
- "BFO:0000002",
- "CL:0002242",
- "CL:0000188",
- "CL:0000183",
- "CL:0000211",
- "UBERON:0001630",
- "UBERON:0002385",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "UPHENO:0079562",
"UPHENO:0079572",
- "BFO:0000002",
- "UPHENO:0003022",
- "UBERON:0000061",
- "CL:0008002",
+ "UBERON:0000465",
+ "UPHENO:0002536",
+ "BFO:0000004",
"CL:0000228",
+ "CL:0008002",
"CL:0000187",
- "CL:0000393",
"UBERON:0014892",
"UBERON:0002036",
- "UPHENO:0002526",
- "HP:0011805",
- "UPHENO:0003432",
- "UPHENO:0002525",
- "RO:0002577",
- "UBERON:0011216",
- "CL:0002372",
- "CL:0000737",
- "UBERON:0001134",
- "UPHENO:0002568",
- "BFO:0000001",
- "UBERON:0000479",
- "UPHENO:0002720",
- "UPHENO:0002897",
- "UPHENO:0002536",
- "UBERON:0000468",
- "UPHENO:0087047",
- "UPHENO:0003047",
- "UPHENO:0002564",
- "BFO:0000004",
- "BFO:0000020",
- "UPHENO:0002949",
+ "CL:0000393",
+ "UPHENO:0001002",
+ "UPHENO:0079562",
"HP:0003557",
"UPHENO:0075195",
- "UPHENO:0086462",
- "UBERON:0000465",
- "UPHENO:0002976",
- "UPHENO:0086172",
- "UPHENO:0002963",
+ "UPHENO:0088180",
+ "HP:0011805",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000479",
"UBERON:0000383",
"UBERON:0001015",
- "UPHENO:0081581",
- "UPHENO:0003081",
- "HP:0033127",
+ "UPHENO:0076710",
+ "UPHENO:0086172",
"UPHENO:0001003",
"BFO:0000001",
- "UBERON:0001062",
- "UBERON:0010000",
- "UBERON:0000062",
- "HP:0003011",
- "UPHENO:0088180",
- "PATO:0000001",
- "HP:0000118",
- "UPHENO:0002530",
+ "RO:0002577",
],
"object_closure_label": [
- "All",
- "Abnormal muscle fiber morphology",
- "morphology of cell of skeletal muscle phenotype",
- "Abnormal cell morphology",
- "muscle organ phenotype",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
+ "cell of skeletal muscle morphology phenotype",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nucleate cell",
+ "cell of skeletal muscle",
+ "contractile cell",
+ "muscle organ",
+ "muscle tissue",
+ "electrically active cell",
+ "entity",
+ "anatomical entity",
+ "phenotypic effect",
+ "morphology of myotube phenotype",
"organ system subdivision",
"myotube",
"striated muscle cell",
"skeletal muscle tissue",
- "phenotype",
- "phenotypic effect",
- "musculature phenotype",
- "morphology of muscle cell phenotype",
- "anatomical entity",
- "multicellular anatomical structure",
- "tissue",
- "muscle tissue phenotype",
- "skeletal muscle organ, vertebrate phenotype",
- "anatomical entity phenotype",
- "entity",
- "material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "size of cell phenotype",
- "skeletal muscle tissue morphology phenotype",
- "muscle structure phenotype",
- "continuant",
- "multicellular organism morphology phenotype",
- "skeletal musculature phenotype",
- "Abnormality of the musculoskeletal system",
- "taxon specific phenotype",
- "skeletal muscle fiber",
+ "morphology of cell of skeletal muscle phenotype",
+ "Abnormal cell morphology",
"multinucleate cell",
+ "skeletal muscle fiber",
"muscle cell",
- "electrically responsive cell",
"skeletal muscle organ, vertebrate",
"striated muscle tissue",
- "specifically dependent continuant",
- "size of skeletal muscle fiber phenotype",
+ "electrically responsive cell",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
"Abnormal skeletal muscle morphology",
- "anatomical structure phenotype",
- "cell of skeletal muscle morphology phenotype",
+ "Abnormality of the musculature",
+ "size of skeletal muscle fiber phenotype",
+ "cell",
+ "muscle structure",
+ "skeletal musculature",
+ "mesoderm-derived structure",
+ "taxon specific phenotype",
+ "anatomical structure",
"cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormality of skeletal muscle fiber size",
+ "anatomical entity morphology phenotype",
+ "size of cell phenotype",
+ "quality",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
"Increased variability in muscle fiber diameter",
"size of anatomical entity phenotype",
- "quality",
- "material entity",
- "nucleate cell",
- "cell of skeletal muscle",
- "contractile cell",
- "electrically active cell",
- "muscle organ",
- "muscle tissue",
+ "morphology of muscle cell phenotype",
+ "Phenotypic abnormality",
+ "material anatomical entity phenotype",
"size of cell of skeletal muscle phenotype",
+ "specifically dependent continuant",
+ "anatomical entity phenotype",
+ "system",
+ "All",
+ "Abnormal muscle fiber morphology",
+ "continuant",
"muscle organ morphology phenotype",
+ "material entity",
+ "skeletal muscle tissue morphology phenotype",
+ "multicellular anatomical structure phenotype",
"independent continuant",
- "Abnormal cellular phenotype",
- "Abnormality of the musculature",
- "Abnormality of skeletal muscle fiber size",
- "tissue phenotype",
- "organ system subdivision phenotype",
- "entity",
- "multicellular organism phenotype",
- "morphology of myotube phenotype",
- "organ phenotype",
+ "tissue",
"musculature of body",
"musculature",
- "mesoderm-derived structure phenotype",
- "anatomical system",
- "cell",
- "muscle structure",
- "skeletal musculature",
- "mesoderm-derived structure",
- "Phenotypic abnormality",
- "system",
+ "entity",
+ "continuant",
],
"evidence_count": 4,
"grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0003557",
@@ -920,137 +867,133 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder",
],
"object_label": "Motor delay",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "UPHENO:0002267",
- "UBERON:0001016",
- "HP:0000001",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "BFO:0000001",
+ "UBERON:0000061",
+ "UBERON:0000468",
+ "UPHENO:0002530",
+ "HP:0001270",
+ "HP:0000118",
+ "UPHENO:0002433",
"UPHENO:0002536",
- "UBERON:0000465",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "HP:0012638",
+ "HP:0012758",
+ "UBERON:0000467",
"UBERON:0010000",
- "BFO:0000002",
- "UBERON:0000061",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UPHENO:0002963",
+ "UPHENO:0004523",
"UPHENO:0002525",
- "UBERON:0000468",
- "HP:0000707",
- "UPHENO:0002568",
- "BFO:0000001",
+ "BFO:0000002",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "UBERON:0000465",
"HP:0012759",
"UPHENO:0001003",
"BFO:0000001",
- "BFO:0000004",
- "UPHENO:0002949",
- "BFO:0000002",
- "UPHENO:0004523",
- "UPHENO:0002385",
- "BFO:0000020",
- "HP:0012758",
- "UPHENO:0002433",
- "UPHENO:0002963",
- "HP:0001270",
- "BFO:0000040",
- "UBERON:0001062",
- "UBERON:0000467",
+ "UPHENO:0001002",
+ "UBERON:0001016",
"PATO:0000001",
- "UPHENO:0082875",
"UPHENO:0002269",
- "HP:0000118",
- "UPHENO:0002530",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "BFO:0000004",
+ "UPHENO:0082875",
],
- "object_closure_label": [
- "All",
- "anatomical structure",
- "Motor delay",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "multicellular organism",
- "phenotype",
- "phenotypic effect",
- "material entity",
- "anatomical entity",
+ "object_closure_label": [
+ "nervous system physiology phenotype",
+ "entity",
"anatomical system",
- "Neurodevelopmental abnormality",
- "taxon specific phenotype",
+ "anatomical system physiology phenotype",
"material anatomical entity phenotype",
- "continuant",
- "continuant",
+ "material entity",
+ "anatomical entity",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "multicellular organism",
"entity",
+ "anatomical structure",
"nervous system phenotype",
- "anatomical entity phenotype",
+ "Neurodevelopmental abnormality",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "quality",
+ "phenotype",
"anatomical structure phenotype",
"material anatomical entity",
- "nervous system physiology phenotype",
- "quality",
- "anatomical entity physiology phenotype",
- "anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "independent continuant",
- "entity",
+ "Motor delay",
+ "Phenotypic abnormality",
"multicellular anatomical structure",
"specifically dependent continuant",
- "multicellular organism phenotype",
- "Abnormal nervous system physiology",
+ "taxon specific phenotype",
+ "continuant",
+ "All",
+ "continuant",
"Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
"nervous system",
+ "independent continuant",
+ "anatomical entity phenotype",
"Neurodevelopmental delay",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
],
"evidence_count": 4,
"grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001270",
@@ -1078,171 +1021,165 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0024530",
- "MONDO:0016139",
- "MONDO:0700096",
- "MONDO:0003939",
"MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0100225",
- "MONDO:0020121",
"MONDO:0100545",
"MONDO:0002081",
+ "MONDO:0100225",
+ "MONDO:0019056",
+ "MONDO:0005336",
"MONDO:0002320",
+ "MONDO:0016106",
+ "BFO:0000002",
+ "MONDO:0024530",
+ "MONDO:0016139",
+ "BFO:0000001",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0020120",
+ "MONDO:0003847",
+ "MONDO:0008029",
+ "MONDO:0100546",
"MONDO:0019952",
"BFO:0000017",
- "MONDO:0003847",
+ "BFO:0000016",
+ "MONDO:0019950",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0020121",
+ "MONDO:0700096",
"MONDO:0000001",
],
"subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "progressive muscular dystrophy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "congenital nervous system disorder",
- "congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "collagen 6-related myopathy",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
"continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
"specifically dependent continuant",
- "collagen 6-related myopathy",
- "Bethlem myopathy 1A",
- "qualitative or quantitative protein defects in neuromuscular diseases",
+ "entity",
"human disease",
+ "Bethlem myopathy",
+ "skeletal muscle disorder",
"hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "Bethlem myopathy 1A",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "congenital nervous system disorder",
],
"object_label": "Proximal muscle weakness",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "UPHENO:0080555",
- "UPHENO:0001003",
- "UPHENO:0002267",
- "UBERON:0000467",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
"HP:0001324",
- "UPHENO:0002816",
- "UPHENO:0002536",
- "UBERON:0001630",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "HP:0033127",
+ "UBERON:0011216",
"UPHENO:0001001",
- "UPHENO:0001002",
- "UBERON:0010000",
- "UPHENO:0003022",
+ "BFO:0000020",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0000118",
"UBERON:0000061",
- "HP:0003701",
- "UPHENO:0003432",
- "UPHENO:0002525",
- "UBERON:0011216",
+ "UPHENO:0002526",
+ "UPHENO:0080555",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
"UPHENO:0080556",
- "UPHENO:0002568",
- "BFO:0000001",
"BFO:0000001",
- "UBERON:0000468",
+ "UBERON:0010000",
"UPHENO:0003047",
- "BFO:0000004",
- "UPHENO:0002526",
+ "HP:0003701",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
"UPHENO:0002359",
- "UPHENO:0002949",
+ "UPHENO:0003022",
+ "UPHENO:0002568",
"BFO:0000002",
- "UPHENO:0002320",
+ "HP:0000001",
"BFO:0000002",
- "UPHENO:0002308",
+ "UPHENO:0002816",
"UPHENO:0002385",
"UBERON:0000465",
- "BFO:0000020",
+ "BFO:0000004",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
"UPHENO:0002386",
- "UPHENO:0002976",
- "UPHENO:0002963",
+ "PATO:0000001",
"UBERON:0000383",
"UBERON:0001015",
- "HP:0033127",
- "BFO:0000040",
- "UBERON:0001062",
- "UBERON:0000062",
- "HP:0003011",
- "PATO:0000001",
+ "UPHENO:0002267",
"UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530",
+ "UPHENO:0001003",
+ "BFO:0000001",
],
"object_closure_label": [
- "All",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "entity",
+ "material entity",
+ "anatomical entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "organ system subdivision",
"Muscle weakness",
- "muscle organ phenotype",
- "musculature of body phenotype",
+ "specifically dependent continuant",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "taxon specific phenotype",
"anatomical structure",
+ "anatomical entity physiology phenotype",
+ "quality",
"organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "organ system subdivision",
- "phenotype",
- "phenotypic effect",
+ "multicellular organism",
"musculature phenotype",
- "material entity",
- "anatomical entity",
+ "anatomical structure phenotype",
"material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "entity",
+ "continuant",
+ "All",
"continuant",
+ "material anatomical entity physiology phenotype",
+ "phenotype",
"muscle structure phenotype",
- "Abnormality of the musculoskeletal system",
- "entity",
- "organ phenotype",
- "muscle structure physiology phenotype",
- "taxon specific phenotype",
- "multicellular anatomical structure physiology phenotype",
"Proximal muscle weakness",
- "decreased anatomical entity strength",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
"independent continuant",
- "Abnormality of the musculature",
- "organ system subdivision phenotype",
- "entity",
- "multicellular anatomical structure",
- "muscle organ physiology phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "decreased muscle organ strength",
"musculature of body",
"musculature",
- "continuant",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "anatomical system",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "decreased muscle organ strength",
+ "organ phenotype",
+ "anatomical entity phenotype",
],
"evidence_count": 3,
"grouping_key": "MONDO:0024530|False|biolink:has_phenotype|HP:0003701",
diff --git a/backend/tests/fixtures/associations.py b/backend/tests/fixtures/associations.py
index ed4985cbe..07f08b23c 100644
--- a/backend/tests/fixtures/associations.py
+++ b/backend/tests/fixtures/associations.py
@@ -6,186 +6,243 @@ def associations():
return {
"limit": 20,
"offset": 0,
- "total": 5079,
+ "total": 5116,
"items": [
{
- "id": "urn:uuid:c3d2efc2-8a36-49a0-918a-e722adbe7cf4",
- "category": "biolink:Association",
- "subject": "MONDO:0100531",
- "original_subject": None,
+ "id": "uuid:c66e15a4-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "BFO:0000002",
- "MONDO:0005267",
+ "BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0100531",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0002545",
],
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
- "X-linked disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "Emery-Dreifuss muscular dystrophy 1, X-linked",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "familial cardiomyopathy",
- "myopathy",
- "continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
- "cardiovascular disorder",
+ "continuant",
"human disease",
- "intrinsic cardiomyopathy",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "entity",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0000762",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0700223",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UBERON:0011216",
"BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "UPHENO:0002433",
+ "UPHENO:0002530",
+ "BFO:0000015",
+ "UBERON:0000468",
+ "UPHENO:0002281",
+ "HP:0000118",
+ "GO:0003008",
+ "UBERON:0000061",
+ "UBERON:0000467",
+ "BFO:0000002",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0002963",
+ "HP:0001311",
+ "CL:0000111",
+ "HP:0032120",
+ "UPHENO:0002308",
+ "UPHENO:0004523",
+ "UPHENO:0002525",
+ "BFO:0000003",
+ "BFO:0000002",
+ "GO:0007154",
+ "HP:0000001",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "HP:0040129",
+ "UPHENO:0002536",
+ "BFO:0000001",
+ "BFO:0000004",
+ "GO:0019226",
+ "HP:0030177",
+ "UPHENO:0005116",
+ "PATO:0000001",
+ "HP:0003134",
+ "GO:0009987",
+ "GO:0032501",
+ "GO:0050877",
+ "UBERON:0001016",
+ "HP:0000762",
+ "HP:0410008",
+ "UPHENO:0002568",
+ "UPHENO:0002463",
+ "UPHENO:0001002",
+ "GO:0008150",
+ "BFO:0000040",
+ "UBERON:0000010",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "UBERON:0000465",
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "object_label": "Decreased nerve conduction velocity",
"object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
+ "Abnormality of the peripheral nervous system",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "entity",
+ "anatomical entity",
+ "nervous system process",
+ "Abnormality of peripheral nervous system electrophysiology",
+ "peripheral nervous system phenotype",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "organ system subdivision",
+ "entity",
+ "process",
"specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
+ "nervous system physiology phenotype",
+ "organ system subdivision phenotype",
+ "phenotypic effect",
+ "multicellular anatomical structure physiology phenotype",
+ "nervous system phenotype",
+ "Abnormal nerve conduction velocity",
+ "taxon specific phenotype",
+ "peripheral nervous system physiology phenotype",
+ "system process",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotype",
"continuant",
- "familial dilated cardiomyopathy",
- "entity",
+ "Abnormal nervous system electrophysiology",
+ "anatomical structure phenotype",
+ "Decreased nerve conduction velocity",
+ "quality",
+ "Abnormality of peripheral nerve conduction",
+ "organ system subdivision physiology phenotype",
+ "Phenotypic abnormality",
+ "cellular process",
+ "multicellular organismal process",
+ "multicellular anatomical structure",
+ "anatomical entity phenotype",
+ "occurrent",
+ "continuant",
+ "material anatomical entity",
+ "All",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "biological_process",
+ "material entity",
+ "nervous system",
+ "Abnormal peripheral nervous system physiology",
+ "independent continuant",
+ "peripheral nervous system",
+ "cell communication",
+ "transmission of nerve impulse",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0100531||biolink:subclass_of|MONDO:0010680",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0000762",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -193,181 +250,325 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:405a1cb8-b345-4fc5-806c-86aab74869a3",
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "original_subject": None,
+ "id": "uuid:c66e15a5-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0700069",
- "MONDO:0019056",
- "MONDO:0700075",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "BFO:0000017",
"BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
- "BFO:0000002",
- "MONDO:0019950",
+ "BFO:0000016",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0015286",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
- "congenital disorder of glycosylation",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001265",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "UPHENO:0049622",
+ "UPHENO:0005629",
+ "UPHENO:0005491",
+ "UPHENO:0050606",
+ "UBERON:0001062",
+ "UPHENO:0049587",
+ "UBERON:0000061",
+ "NBO:0000389",
+ "UPHENO:0002433",
+ "UPHENO:0053473",
+ "UPHENO:0002530",
+ "UPHENO:0079833",
+ "BFO:0000015",
+ "UBERON:0000468",
+ "HP:0000118",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
+ "GO:0003008",
+ "NBO:0000403",
+ "NBO:0000001",
+ "HP:0001265",
+ "UPHENO:0049708",
+ "UPHENO:0002536",
+ "UBERON:0000467",
+ "BFO:0000002",
+ "HP:0001315",
+ "UPHENO:0049703",
+ "GO:0008150",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0052915",
"BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UPHENO:0002963",
+ "HP:0011446",
+ "UPHENO:0049699",
+ "HP:0031826",
+ "UPHENO:0050613",
+ "UPHENO:0079826",
+ "UPHENO:0004523",
+ "UPHENO:0002525",
+ "UPHENO:0052178",
+ "UPHENO:0005433",
+ "UPHENO:0051276",
+ "BFO:0000003",
+ "BFO:0000002",
+ "GO:0009605",
+ "GO:0050879",
+ "GO:0007610",
+ "HP:0000001",
+ "UPHENO:0005625",
+ "UPHENO:0050079",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "UPHENO:0050875",
+ "UPHENO:0049586",
+ "UPHENO:0080377",
+ "BFO:0000004",
+ "GO:0050882",
+ "NBO:0000338",
+ "GO:0050905",
+ "UPHENO:0001002",
+ "PATO:0000001",
+ "GO:0050896",
+ "GO:0032501",
+ "GO:0050881",
+ "NBO:0000313",
+ "GO:0050877",
+ "UBERON:0001016",
+ "UPHENO:0053022",
+ "NBO:0000388",
+ "HP:0100022",
+ "HP:0000708",
+ "BFO:0000040",
+ "GO:0060004",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "UPHENO:0050106",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "UBERON:0000465",
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Hyporeflexia",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "multicellular organismal movement phenotype",
+ "biological_process phenotype",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "decreased qualitatively response to external stimulus",
+ "material anatomical entity phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "anatomical entity",
+ "musculoskeletal movement",
+ "behavior process",
+ "nervous system process",
+ "phenotypic effect",
+ "Atypical behavior",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "neuromuscular process phenotype",
+ "behavior phenotype",
+ "decreased response to external stimulus",
+ "decreased response to stimulus",
+ "process",
+ "anatomical structure",
+ "nervous system physiology phenotype",
+ "reflexive behavior",
+ "musculoskeletal movement phenotype",
+ "behavior process phenotype",
+ "nervous system phenotype",
+ "taxon specific phenotype",
+ "decreased qualitatively reflex",
+ "system process",
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "biological_process",
+ "reflex",
+ "multicellular organism",
+ "phenotype",
+ "decreased qualitatively response to stimulus",
+ "continuant",
+ "decreased reflex",
+ "response to external stimulus phenotype",
+ "Abnormality of mental function",
+ "nervous system process phenotype",
+ "anatomical structure phenotype",
+ "quality",
+ "voluntary movement behavior",
+ "body part movement",
+ "Abnormality of movement",
+ "Phenotypic abnormality",
+ "voluntary musculoskeletal movement phenotype",
+ "response to stimulus",
+ "multicellular organismal process",
+ "multicellular anatomical structure",
+ "involuntary movement behavior",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "occurrent",
+ "continuant",
+ "material anatomical entity",
+ "All",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "material entity",
+ "nervous system",
+ "Abnormal reflex",
+ "decreased biological_process",
+ "reflex phenotype",
+ "independent continuant",
+ "response to stimulus phenotype",
+ "biological_process rate phenotype",
+ "decreased qualitatively biological_process",
+ "Reduced tendon reflexes",
+ "system process phenotype",
+ "voluntary movement behavior phenotype",
+ "Hyporeflexia",
+ "anatomical entity phenotype",
+ "entity",
+ "response to external stimulus",
+ "multicellular organismal movement",
+ "behavior",
+ "voluntary musculoskeletal movement",
+ "kinesthetic behavior",
+ "neuromuscular process",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001265",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -375,181 +576,221 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:2f87c310-fec5-4095-8401-bf84c89fc569",
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "original_subject": None,
+ "id": "uuid:c66e15a6-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0700069",
- "MONDO:0019056",
- "MONDO:0700075",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "BFO:0000017",
"BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
- "BFO:0000002",
- "MONDO:0019950",
+ "BFO:0000016",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0015286",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
- "congenital disorder of glycosylation",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0700069",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001609",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "MONDO:0045010",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0700069",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "BFO:0000017",
- "BFO:0000016",
- "MONDO:0017741",
- "MONDO:0700223",
+ "UPHENO:0002530",
+ "UPHENO:0075901",
+ "UBERON:0001062",
+ "BFO:0000001",
+ "UBERON:0000061",
+ "UPHENO:0001001",
"BFO:0000020",
- "MONDO:0015286",
- "MONDO:0002081",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0000118",
+ "BFO:0000002",
+ "BFO:0000002",
+ "UPHENO:0002526",
+ "UBERON:0000467",
"BFO:0000001",
- "MONDO:0024322",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UBERON:0010000",
+ "UPHENO:0002525",
+ "UPHENO:0002568",
+ "HP:0000001",
+ "UBERON:0034681",
+ "UPHENO:0001003",
+ "UPHENO:0002536",
+ "UPHENO:0001002",
+ "HP:0001609",
+ "PATO:0000001",
+ "BFO:0000040",
+ "HP:0001608",
+ "BFO:0000004",
+ "UBERON:0000465",
],
- "object_label": "myopathy caused by variation in POMGNT2",
+ "object_label": "Hoarse voice",
"object_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "disease",
- "muscle tissue disorder",
- "congenital disorder of glycosylation",
- "realizable entity",
"entity",
- "inborn errors of metabolism",
- "continuant",
- "musculoskeletal system disorder",
- "disposition",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
+ "anatomical system",
+ "Abnormality of the voice",
+ "anatomical entity",
+ "phenotypic effect",
+ "Hoarse voice",
+ "anatomical structure",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "metabolic disease",
- "glycoprotein metabolism disease",
+ "vocal organ phenotype",
+ "vocal organ",
+ "quality",
+ "organ",
+ "multicellular organism",
+ "anatomical structure phenotype",
+ "Phenotypic abnormality",
+ "continuant",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure",
+ "taxon specific phenotype",
+ "anatomical entity phenotype",
+ "entity",
+ "material anatomical entity",
+ "All",
+ "material entity",
+ "phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "organ phenotype",
+ "continuant",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0700069",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001609",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -557,191 +798,239 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:385545b5-6092-4884-9e9c-eaa9e271f3aa",
- "category": "biolink:Association",
- "subject": "MONDO:0800209",
- "original_subject": None,
+ "id": "uuid:c66e15a7-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0000462",
- "MONDO:0800209",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "BFO:0000017",
"BFO:0000001",
- "BFO:0000020",
"BFO:0000016",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0007614",
- "BFO:0000017",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
- "MONDO:0003569",
+ "MONDO:0002545",
],
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "congenital fibrosis of extraocular muscles",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "eye adnexa disorder",
- "fibrosis of extraocular muscles, congenital, 3b",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0007614",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003198",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "HP:0003198",
+ "UPHENO:0002976",
+ "UBERON:0001062",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "UPHENO:0081581",
+ "HP:0033127",
"BFO:0000001",
+ "UBERON:0000061",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "UPHENO:0001001",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "HP:0000118",
+ "BFO:0000002",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "BFO:0000001",
+ "UBERON:0010000",
"BFO:0000020",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0007614",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569",
+ "HP:0003011",
+ "UBERON:0005090",
+ "UPHENO:0002568",
+ "HP:0000001",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UPHENO:0002536",
+ "BFO:0000004",
+ "UPHENO:0001002",
+ "PATO:0000001",
+ "HP:0011805",
+ "BFO:0000040",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0076710",
+ "UPHENO:0001003",
],
- "object_label": "congenital fibrosis of extraocular muscles",
+ "object_label": "Myopathy",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
"entity",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "anatomical entity",
+ "phenotypic effect",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ "organ system subdivision",
+ "anatomical structure",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "muscle structure",
+ "taxon specific phenotype",
+ "continuant",
+ "anatomical entity morphology phenotype",
+ "organ",
+ "musculature phenotype",
+ "material anatomical entity",
+ "quality",
+ "Phenotypic abnormality",
+ "Myopathy",
+ "multicellular anatomical structure",
"specifically dependent continuant",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
- "myopathy",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "anatomical entity phenotype",
+ "entity",
+ "All",
+ "muscle organ morphology phenotype",
+ "material entity",
+ "phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "continuant",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0800209||biolink:subclass_of|MONDO:0007614",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003198",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -749,211 +1038,265 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:2b6bf9c8-5099-414e-9bfc-eef68b3929fd",
- "category": "biolink:Association",
- "subject": "MONDO:0800318",
- "original_subject": None,
+ "id": "uuid:c66e15a8-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "BFO:0000016",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
+ "BFO:0000017",
"BFO:0000001",
- "MONDO:0005267",
- "BFO:0000020",
- "MONDO:0800318",
+ "BFO:0000016",
"MONDO:0700223",
- "MONDO:0016333",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0002545",
],
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
- "X-linked disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "continuant",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "heart disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "familial cardiomyopathy",
- "myopathy",
- "cardiovascular disorder",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
- "intrinsic cardiomyopathy",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "disposition",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003458",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
- ],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "HP:0003457",
+ "HP:0003198",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "UPHENO:0001001",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "HP:0000118",
+ "UBERON:0000061",
+ "UPHENO:0002526",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "BFO:0000001",
+ "UBERON:0010000",
+ "BFO:0000020",
+ "UPHENO:0003047",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "HP:0003458",
+ "UPHENO:0002568",
+ "BFO:0000002",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0002385",
+ "UBERON:0000465",
+ "UPHENO:0002536",
+ "BFO:0000004",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011805",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ ],
+ "object_label": "EMG: myopathic abnormalities",
+ "object_closure_label": [
+ "organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "entity",
+ "anatomical entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "multicellular organism",
+ "organ system subdivision",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical entity morphology phenotype",
+ "quality",
+ "organ",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "EMG abnormality",
+ "Myopathy",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
"specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "continuant",
- "familial dilated cardiomyopathy",
+ "anatomical entity phenotype",
"entity",
+ "continuant",
+ "All",
+ "continuant",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "material entity",
+ "phenotype",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "EMG: myopathic abnormalities",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "organ phenotype",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0800318||biolink:subclass_of|MONDO:0010680",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003458",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -961,179 +1304,305 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:2d992073-c362-4676-a4fb-5c725f8175d1",
- "category": "biolink:Association",
- "subject": "MONDO:0957270",
- "original_subject": None,
+ "id": "uuid:c66e15a9-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0020120",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
"MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
+ "MONDO:0003620",
+ "MONDO:0005336",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
"OGMS:0000031",
+ "MONDO:0024257",
"MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0024237",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "BFO:0000017",
+ "BFO:0000001",
"BFO:0000016",
- "MONDO:0016971",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0957270",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "autosomal genetic disease",
- "entity",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003557",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UPHENO:0079564",
+ "HP:0025461",
+ "UPHENO:0002530",
+ "UPHENO:0086457",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "HP:0025354",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "UBERON:0011216",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0000118",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
- "MONDO:0700223",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "CL:0002242",
+ "CL:0000188",
+ "CL:0000183",
+ "UBERON:0001630",
+ "UBERON:0002385",
+ "CL:0000211",
+ "UPHENO:0001001",
"BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0003847",
- "MONDO:0000001",
+ "HP:0012084",
+ "CL:0002372",
+ "CL:0000737",
+ "UBERON:0001134",
+ "UPHENO:0087047",
+ "HP:0003011",
+ "UPHENO:0086462",
+ "UPHENO:0002525",
+ "CL:0000000",
+ "UBERON:0005090",
+ "UBERON:0018254",
+ "UBERON:0004120",
+ "UPHENO:0002568",
+ "HP:0000001",
+ "HP:0004303",
+ "BFO:0000002",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0077801",
+ "UPHENO:0079572",
+ "UBERON:0000465",
+ "UPHENO:0002536",
+ "BFO:0000004",
+ "CL:0000228",
+ "CL:0008002",
+ "CL:0000187",
+ "UBERON:0014892",
+ "UBERON:0002036",
+ "CL:0000393",
+ "UPHENO:0001002",
+ "UPHENO:0079562",
+ "HP:0003557",
+ "UPHENO:0075195",
+ "UPHENO:0088180",
+ "HP:0011805",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000479",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0076710",
+ "UPHENO:0086172",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "RO:0002577",
],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "object_label": "Increased variability in muscle fiber diameter",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "limb-girdle muscular dystrophy",
+ "cell of skeletal muscle morphology phenotype",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nucleate cell",
+ "cell of skeletal muscle",
+ "contractile cell",
+ "muscle organ",
+ "muscle tissue",
+ "electrically active cell",
+ "entity",
+ "anatomical entity",
+ "phenotypic effect",
+ "morphology of myotube phenotype",
+ "organ system subdivision",
+ "myotube",
+ "striated muscle cell",
+ "skeletal muscle tissue",
+ "morphology of cell of skeletal muscle phenotype",
+ "Abnormal cell morphology",
+ "multinucleate cell",
+ "skeletal muscle fiber",
+ "muscle cell",
+ "skeletal muscle organ, vertebrate",
+ "striated muscle tissue",
+ "electrically responsive cell",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "size of skeletal muscle fiber phenotype",
+ "cell",
+ "muscle structure",
+ "skeletal musculature",
+ "mesoderm-derived structure",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormality of skeletal muscle fiber size",
+ "anatomical entity morphology phenotype",
+ "size of cell phenotype",
+ "quality",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "Increased variability in muscle fiber diameter",
+ "size of anatomical entity phenotype",
+ "morphology of muscle cell phenotype",
+ "Phenotypic abnormality",
+ "material anatomical entity phenotype",
+ "size of cell of skeletal muscle phenotype",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
+ "anatomical entity phenotype",
+ "system",
+ "All",
+ "Abnormal muscle fiber morphology",
+ "continuant",
+ "muscle organ morphology phenotype",
+ "material entity",
+ "skeletal muscle tissue morphology phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "tissue",
+ "musculature of body",
+ "musculature",
"entity",
+ "continuant",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0957270||biolink:subclass_of|MONDO:0015152",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003557",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1141,167 +1610,345 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:02519cdf-3922-4d4f-a606-8951db2d0ba4",
- "category": "biolink:Association",
- "subject": "MONDO:0958077",
- "original_subject": None,
+ "id": "uuid:c66e15ab-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
"MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
+ "MONDO:0003620",
+ "MONDO:0005336",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
- "MONDO:0019950",
+ "MONDO:0100546",
+ "BFO:0000017",
+ "BFO:0000001",
+ "BFO:0000016",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "collagen 6-related congenital muscular dystrophy",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
- "continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0008180",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "HP:0003236",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "UPHENO:0076286",
+ "HP:0040081",
+ "UPHENO:0049587",
+ "UBERON:0000061",
+ "UBERON:0000463",
+ "UBERON:0000468",
+ "CHEBI:35352",
+ "CHEBI:32988",
+ "CHEBI:33285",
+ "CHEBI:36963",
+ "BFO:0000020",
+ "UPHENO:0002530",
+ "UPHENO:0081547",
+ "UPHENO:0077826",
+ "HP:0032180",
+ "BFO:0000015",
+ "UBERON:0000178",
+ "HP:0000118",
+ "GO:0032991",
+ "CHEBI:23367",
+ "GO:0061695",
+ "CHEBI:15841",
+ "CHEBI:33302",
+ "CHEBI:33582",
+ "CHEBI:33304",
+ "CHEBI:16670",
+ "UPHENO:0002536",
+ "UPHENO:0002554",
+ "UBERON:0000467",
+ "UBERON:0002193",
+ "UBERON:0002390",
+ "UBERON:0000179",
+ "CHEBI:50047",
+ "CHEBI:37622",
+ "CHEBI:33256",
+ "UPHENO:0089759",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0089764",
+ "UPHENO:0002963",
+ "HP:0008180",
+ "HP:0430071",
+ "UBERON:0004120",
+ "UBERON:0006314",
+ "UPHENO:0051763",
+ "UPHENO:0046383",
+ "HP:0001871",
+ "UPHENO:0004459",
+ "BFO:0000003",
+ "BFO:0000002",
+ "HP:0000001",
+ "HP:0011021",
+ "UPHENO:0046284",
+ "UPHENO:0051612",
+ "UPHENO:0051804",
+ "UPHENO:0002525",
+ "GO:0042592",
+ "GO:0005575",
+ "CHEBI:24431",
+ "UBERON:0000465",
+ "UPHENO:0077817",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "BFO:0000004",
+ "GO:1990234",
+ "CHEBI:33839",
+ "CHEBI:33675",
+ "GO:0008152",
+ "GO:1902494",
+ "CHEBI:36357",
+ "CHEBI:33579",
+ "CHEBI:16541",
+ "GO:0002185",
+ "CHEBI:51143",
+ "CHEBI:50860",
+ "CHEBI:25806",
+ "CHEBI:36962",
+ "UPHENO:0049904",
+ "UPHENO:0001002",
+ "HP:0001939",
+ "PATO:0000001",
+ "GO:0008150",
+ "HP:0010876",
+ "HP:0033405",
+ "HP:0004364",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "PR:000050567",
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Mildly elevated creatine kinase",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "homeostatic process phenotype",
+ "biological_process phenotype",
+ "anatomical system",
+ "hemolymphoid system",
+ "hematopoietic system",
+ "haemolymphatic fluid",
+ "organic amino compound",
+ "carboxamide",
+ "primary amide",
+ "material anatomical entity phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "material entity",
+ "anatomical entity",
+ "catalytic complex",
+ "polyatomic entity",
+ "main group molecular entity",
+ "Abnormality of metabolism/homeostasis",
+ "blood protein polypeptide chain level phenotype",
+ "blood chemical entity level phenotype",
+ "anatomical structure phenotype",
+ "blood",
+ "multicellular organism",
+ "entity",
+ "process",
+ "anatomical structure",
+ "organism substance",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "role blood level phenotype",
+ "Abnormal circulating creatine kinase concentration",
+ "Elevated circulating creatine kinase concentration",
+ "organonitrogen compound",
+ "amide",
+ "heteroorganic entity",
+ "organooxygen compound",
+ "Abnormal circulating organic compound concentration",
+ "phenotypic effect",
+ "mesoderm-derived structure",
+ "bodily fluid",
+ "peptide",
+ "multicellular organism chemical entity level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "taxon specific phenotype",
+ "protein-containing complex",
+ "molecular entity",
+ "Abnormal circulating nitrogen compound concentration",
+ "anatomical system phenotype",
+ "Mildly elevated creatine kinase",
+ "quality",
+ "protein polypeptide chain",
+ "creatine kinase complex",
+ "organic molecular entity",
+ "nitrogen molecular entity",
+ "oxygen molecular entity",
+ "organochalcogen compound",
+ "phenotype",
+ "blood organic molecular entity level phenotype",
+ "continuant",
+ "chemical entity level phenotype",
+ "homeostatic process",
+ "cellular_component",
+ "chemical entity",
+ "material anatomical entity",
+ "transferase complex, transferring phosphorus-containing groups",
+ "polypeptide",
+ "pnictogen molecular entity",
+ "carbon group molecular entity",
+ "chalcogen molecular entity",
+ "Phenotypic abnormality",
+ "mesoderm-derived structure phenotype",
+ "metabolic process",
+ "multicellular anatomical structure",
+ "blood organic amino compound level phenotype",
+ "occurrent",
+ "continuant",
+ "protein-containing material entity",
+ "All",
+ "Abnormal circulating enzyme concentration",
+ "Abnormal circulating protein concentration",
+ "Abnormal circulating organic amino compound concentration",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "independent continuant",
+ "blood oxygen molecular entity level phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "role bodily fluid level phenotype",
+ "blood nitrogen molecular entity level phenotype",
+ "Abnormal circulating metabolite concentration",
+ "anatomical entity phenotype",
+ "transferase complex",
+ "macromolecule",
+ "p-block molecular entity",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958077||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0008180",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1309,183 +1956,401 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:cdf868e1-085e-4f2a-a113-759256c509d8",
- "category": "biolink:Association",
- "subject": "MONDO:0958176",
- "original_subject": None,
+ "id": "uuid:c66e15ac-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
"MONDO:0005071",
- "MONDO:0008116",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
+ "MONDO:0020128",
+ "MONDO:0016108",
"MONDO:0100545",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0958176",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_label": "oculopharyngeal muscular dystrophy 1",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "oculopharyngeal muscular dystrophy 1",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- ],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
- "MONDO:0016106",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
+ "BFO:0000001",
+ "BFO:0000016",
"MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "object_label": "oculopharyngeal muscular dystrophy",
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "subject_taxon": None,
+ "subject_taxon_label": None,
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0008619",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "UPHENO:0089283",
+ "UPHENO:3000000",
+ "HP:0008619",
+ "UPHENO:0002240",
+ "UBERON:0001062",
+ "UBERON:0001032",
+ "UPHENO:0003025",
+ "UPHENO:0081581",
+ "HP:0000598",
+ "UPHENO:0049587",
+ "UBERON:0034923",
+ "UBERON:0034921",
+ "UBERON:0001846",
+ "UPHENO:0001001",
+ "UPHENO:0005517",
+ "UPHENO:0002530",
+ "BFO:0000015",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UPHENO:0078017",
+ "UPHENO:0087907",
+ "UPHENO:0005518",
+ "HP:0000118",
+ "UPHENO:0002643",
+ "UPHENO:0052161",
+ "BFO:0000001",
+ "UPHENO:0005513",
+ "UPHENO:0002211",
+ "BFO:0000002",
+ "GO:0003008",
+ "UBERON:0000061",
+ "GO:0050954",
+ "UPHENO:0002526",
+ "HP:0000152",
+ "UPHENO:0077965",
+ "HP:0011389",
+ "UPHENO:0005512",
+ "UPHENO:0077889",
+ "UBERON:0000467",
+ "HP:0031704",
+ "UPHENO:0049703",
+ "GO:0008150",
+ "UBERON:0010314",
+ "UBERON:0004121",
+ "UBERON:0010000",
+ "BFO:0000020",
+ "HP:0000407",
+ "UPHENO:0049699",
+ "UPHENO:0077990",
+ "UPHENO:0002903",
+ "UPHENO:0002764",
+ "UPHENO:0005437",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0000153",
+ "UBERON:0011676",
+ "UBERON:0013701",
+ "UPHENO:0052231",
+ "UPHENO:0050625",
+ "UPHENO:0052178",
+ "UPHENO:0005433",
+ "UPHENO:0078736",
+ "HP:0031703",
+ "UPHENO:0002301",
+ "UPHENO:0002568",
+ "BFO:0000003",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0052970",
+ "UPHENO:0076692",
+ "UPHENO:0002385",
+ "UPHENO:0052159",
+ "UBERON:0000465",
+ "UBERON:0015203",
+ "UBERON:0013702",
+ "UBERON:0007811",
+ "UBERON:0000020",
+ "UPHENO:0080377",
+ "HP:0000359",
+ "UPHENO:0002536",
+ "BFO:0000004",
+ "GO:0007600",
+ "UBERON:0001690",
+ "UBERON:0002105",
+ "UPHENO:0001002",
+ "UPHENO:0002866",
+ "HP:0000234",
+ "PATO:0000001",
+ "UPHENO:0005596",
+ "GO:0032501",
+ "GO:0050877",
+ "UBERON:0004456",
+ "UBERON:0000033",
+ "UPHENO:0083958",
+ "HP:0000365",
+ "UPHENO:0086589",
+ "UPHENO:0002548",
+ "UPHENO:0083952",
+ "UPHENO:0052165",
+ "UPHENO:0002386",
+ "GO:0007605",
+ "UPHENO:0002844",
+ "UPHENO:0003044",
+ "UPHENO:0076730",
+ "UPHENO:0002467",
+ "UPHENO:0002553",
+ "BFO:0000040",
+ "UBERON:0000475",
+ "UPHENO:0050234",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "HP:0000364",
+ "UPHENO:0050620",
+ "UPHENO:0002352",
+ "UPHENO:0050106",
+ "UPHENO:0082875",
+ "UPHENO:0052160",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ ],
+ "object_label": "Bilateral sensorineural hearing impairment",
+ "object_closure_label": [
+ "biological_process in peripheral nervous system phenotype",
+ "craniocervical region morphology phenotype",
+ "decreased biological_process in nerve",
+ "Functional abnormality of the inner ear",
+ "organ physiology phenotype",
+ "Hearing impairment",
+ "biological_process phenotype",
+ "anatomical system",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased system process",
+ "material anatomical entity phenotype",
+ "entity",
+ "anatomical entity",
+ "nervous system process",
+ "sensory system",
+ "phenotypic effect",
+ "sense organ phenotype",
+ "Abnormality of the head",
+ "ear morphology phenotype",
+ "multi organ part structure physiology phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "anatomical structure physiology phenotype",
+ "decreased qualitatively nervous system process",
+ "multi organ part structure",
+ "internal ear",
+ "decreased qualitatively biological_process in peripheral nervous system",
+ "craniofacial/craniocervical phenotype",
+ "multi organ part structure phenotype",
+ "decreased qualitatively sensory perception",
+ "process",
+ "disconnected anatomical group",
+ "vestibulo-auditory system",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the ear",
+ "Bilateral sensorineural hearing impairment",
+ "ear physiology phenotype",
+ "decreased sensory perception of sound in nerve",
+ "ear phenotype",
+ "internal ear phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "multicellular anatomical structure physiology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "Abnormality of the inner ear",
+ "taxon specific phenotype",
+ "system process",
+ "anatomical structure",
+ "non-connected functional system",
+ "body proper",
+ "craniocervical region",
+ "sense organ",
+ "Hearing abnormality",
+ "sensory perception phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "Sensorineural hearing impairment",
+ "anatomical entity morphology phenotype",
+ "biological_process",
+ "organ",
+ "multicellular organism",
+ "head",
+ "decreased qualitatively sensory perception of sound",
+ "nervous system process phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "decreased biological_process in peripheral nervous system",
+ "head morphology phenotype",
+ "ectoderm-derived structure phenotype",
+ "biological_process in nervous system phenotype",
+ "decreased qualitatively system process",
+ "quality",
+ "decreased multicellular organismal process",
+ "sensory perception of mechanical stimulus",
+ "head phenotype",
+ "decreased sensory perception of sound",
+ "Phenotypic abnormality",
+ "decreased biological_process in multicellular organism",
+ "multicellular organismal process",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "multicellular anatomical structure",
+ "sensory perception of sound",
+ "Abnormal ear physiology",
+ "specifically dependent continuant",
+ "anatomical entity phenotype",
+ "occurrent",
+ "All",
+ "continuant",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "material entity",
+ "entire sense organ system",
+ "anterior region of body",
+ "subdivision of organism along main body axis",
+ "main body axis",
+ "phenotype",
+ "craniocervical region phenotype",
+ "decreased biological_process",
+ "internal ear physiology phenotype",
+ "Abnormal ear morphology",
+ "ectoderm-derived structure physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "organism subdivision",
+ "biological_process rate phenotype",
+ "sensory perception of sound phenotype",
+ "decreased qualitatively biological_process",
+ "system process phenotype",
+ "organ phenotype",
+ "Abnormality of head or neck",
+ "decreased qualitatively multicellular organismal process",
+ "decreased nervous system process",
"entity",
+ "decreased sensory perception",
+ "sense organ physiology phenotype",
+ "continuant",
+ "sensory perception",
+ "ear",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958176||biolink:subclass_of|MONDO:0008116",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0008619",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1493,183 +2358,261 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:034d4f2c-a3f6-42f6-afa6-dddaac5b15a7",
- "category": "biolink:Association",
- "subject": "MONDO:0958195",
- "original_subject": None,
+ "id": "uuid:c66e15ad-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0958195",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "MONDO:0008116",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0024458",
+ "BFO:0000001",
+ "BFO:0000016",
"MONDO:0700223",
- "MONDO:0004746",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "oculopharyngeal muscular dystrophy 2",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
+ "myopathy",
"entity",
- "continuant",
- "hereditary neuromuscular disease",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "oculopharyngeal muscular dystrophy 2",
- "eye adnexa disorder",
- "disposition",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0009063",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "HP:0001324",
+ "UPHENO:0002976",
+ "HP:0033127",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "HP:0000118",
+ "UBERON:0000061",
+ "UPHENO:0002526",
+ "UPHENO:0080555",
+ "HP:0011804",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "UPHENO:0080556",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UPHENO:0003047",
+ "HP:0003011",
+ "HP:0002460",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "HP:0009063",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "UPHENO:0002568",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002816",
+ "UPHENO:0002385",
+ "UBERON:0000465",
+ "UPHENO:0002536",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "PATO:0000001",
+ "UPHENO:0002386",
+ "BFO:0000040",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0002267",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
],
- "object_label": "oculopharyngeal muscular dystrophy",
+ "object_label": "Progressive distal muscle weakness",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
"entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "multicellular organism",
+ "organ system subdivision",
+ "Muscle weakness",
+ "entity",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
+ "Distal muscle weakness",
+ "multicellular anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "organ",
+ "phenotype",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "quality",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "specifically dependent continuant",
+ "anatomical entity phenotype",
+ "continuant",
+ "All",
+ "continuant",
+ "material anatomical entity physiology phenotype",
+ "material entity",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "Progressive distal muscle weakness",
+ "decreased muscle organ strength",
+ "organ phenotype",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958195||biolink:subclass_of|MONDO:0008116",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0009063",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1677,179 +2620,253 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:0768c5ef-9fcd-4678-a304-dcca1ad4f13b",
- "category": "biolink:Association",
- "subject": "MONDO:0958233",
- "original_subject": None,
+ "id": "uuid:c66e15ae-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
"BFO:0000001",
- "BFO:0000020",
"BFO:0000016",
- "MONDO:0019950",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0958233",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "Bethlem myopathy 1B",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "continuant",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "Bethlem myopathy 1B",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0009830",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
+ "HP:0000759",
+ "UPHENO:0002976",
+ "PATO:0000001",
+ "UBERON:0001062",
+ "UPHENO:0081581",
+ "UBERON:0000061",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "UPHENO:0001001",
+ "UPHENO:0002433",
+ "UPHENO:0002530",
+ "HP:0000118",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UPHENO:0002536",
+ "UBERON:0000467",
+ "BFO:0000002",
+ "UBERON:0010000",
+ "BFO:0000020",
+ "UPHENO:0002963",
+ "UPHENO:0004523",
+ "UPHENO:0002525",
+ "HP:0009830",
+ "HP:0000001",
+ "UPHENO:0076692",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "UBERON:0000465",
+ "BFO:0000001",
+ "UPHENO:0005116",
+ "UPHENO:0001002",
+ "UPHENO:0076702",
+ "UBERON:0001016",
+ "HP:0410008",
+ "UPHENO:0002568",
+ "HP:0012639",
+ "BFO:0000040",
+ "UBERON:0000010",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "BFO:0000004",
+ "UPHENO:0082875",
+ "UPHENO:0076722",
+ "UPHENO:0001003",
+ "BFO:0000001",
],
- "object_label": "Bethlem myopathy",
+ "object_label": "Peripheral neuropathy",
"object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "Abnormality of the peripheral nervous system",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "entity",
+ "anatomical entity",
+ "peripheral nervous system phenotype",
+ "phenotypic effect",
+ "Abnormal nervous system morphology",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "multicellular organism",
+ "organ system subdivision",
+ "Abnormal peripheral nervous system morphology",
+ "entity",
+ "anatomical structure",
+ "nervous system physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "organ system subdivision phenotype",
+ "quality",
+ "nervous system phenotype",
+ "Peripheral neuropathy",
+ "taxon specific phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical entity morphology phenotype",
+ "continuant",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "nervous system morphology phenotype",
+ "Phenotypic abnormality",
+ "multicellular anatomical structure",
"specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
+ "All",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "material entity",
+ "nervous system",
+ "phenotype",
+ "peripheral nervous system",
+ "independent continuant",
+ "peripheral nervous system morphology phenotype",
+ "anatomical entity phenotype",
"continuant",
- "entity",
- "congenital muscular dystrophy",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958233||biolink:subclass_of|MONDO:0008029",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0009830",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1857,179 +2874,287 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:d1747e5a-0b37-4bcf-8ec8-cbc9d5fca0bb",
- "category": "biolink:Association",
- "subject": "MONDO:0958234",
- "original_subject": None,
+ "id": "uuid:c66e15af-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0958234",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
"MONDO:0019056",
- "MONDO:0100546",
+ "MONDO:0003620",
+ "MONDO:0005336",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "BFO:0000017",
+ "BFO:0000001",
"BFO:0000016",
- "MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "BFO:0000017",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "Bethlem myopathy 1C",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
+ "myopathy",
"entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "disposition",
- "Bethlem myopathy 1C",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
- "continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0010219",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UPHENO:0002585",
+ "BFO:0000040",
+ "UBERON:0002103",
+ "UBERON:0000978",
+ "UBERON:0002529",
+ "UPHENO:0081581",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "UPHENO:0002530",
+ "UPHENO:0086635",
+ "UBERON:0004708",
+ "UBERON:0000468",
+ "UBERON:0010538",
+ "UPHENO:0002861",
+ "HP:0000118",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UBERON:0010709",
+ "UBERON:0008784",
+ "UBERON:0002470",
+ "UPHENO:0002945",
+ "UBERON:0001062",
+ "UPHENO:0003095",
+ "UBERON:0010000",
+ "UBERON:0002387",
+ "UPHENO:0001001",
"BFO:0000020",
- "BFO:0000016",
+ "UPHENO:0081575",
+ "UPHENO:0087006",
+ "UPHENO:0002525",
+ "UBERON:0002101",
+ "UBERON:0000154",
+ "UBERON:0000026",
+ "UPHENO:0002568",
+ "HP:0000001",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UPHENO:0076692",
+ "UPHENO:0002830",
+ "UBERON:0000465",
+ "UBERON:0004709",
+ "UBERON:0010758",
+ "UPHENO:0086628",
+ "UPHENO:0002536",
+ "UPHENO:0003065",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0010707",
+ "HP:0002814",
+ "UPHENO:0001002",
+ "HP:0010219",
+ "UPHENO:0003049",
+ "PATO:0000001",
+ "UBERON:0015212",
+ "UBERON:0006058",
+ "HP:0001760",
+ "UBERON:0000475",
+ "UPHENO:0002926",
+ "HP:0040064",
+ "UPHENO:0002944",
+ "UPHENO:0001003",
+ "UPHENO:0003070",
+ "PR:000050567",
+ "RO:0002577",
],
- "object_label": "Bethlem myopathy",
+ "object_label": "Structural foot deformity",
"object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "paired limb/fin phenotype",
+ "entity",
+ "material anatomical entity phenotype",
+ "material entity",
+ "lateral structure",
+ "hindlimb",
+ "leg",
+ "limb segment",
+ "Abnormality of the lower limb",
+ "phenotypic effect",
+ "Structural foot deformity",
+ "Abnormal foot morphology",
+ "limb phenotype",
+ "paired limb/fin",
+ "paired limb/fin segment phenotype",
+ "entity",
+ "pes",
+ "multicellular organism morphology phenotype",
+ "anatomical entity",
+ "limb",
+ "lower limb segment",
+ "autopod region",
+ "taxon specific phenotype",
+ "leg phenotype",
+ "anatomical structure",
+ "pelvic appendage",
+ "subdivision of organism along appendicular axis",
+ "limb segment phenotype",
+ "pes morphology phenotype",
+ "anatomical entity morphology phenotype",
+ "multicellular organism",
+ "multi-limb segment region",
+ "phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "appendage phenotype",
+ "multi-limb segment region phenotype",
+ "quality",
+ "pelvic complex",
+ "Phenotypic abnormality",
+ "lower limb segment phenotype",
+ "multicellular anatomical structure",
+ "subdivision of organism along appendicular axis phenotype",
"specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
+ "anatomical entity phenotype",
+ "protein-containing material entity",
+ "system",
+ "paired limb/fin segment",
+ "All",
"continuant",
- "entity",
- "congenital muscular dystrophy",
+ "organism subdivision phenotype",
+ "Abnormality of limbs",
+ "posterior region of body",
+ "appendage",
+ "autopod region morphology phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "organism subdivision",
+ "hindlimb morphology phenotype",
+ "limb morphology phenotype",
+ "continuant",
+ "appendage girdle complex",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958234||biolink:subclass_of|MONDO:0008029",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0010219",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2037,175 +3162,239 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:5222c632-e6ff-48d6-aa6e-bee3197db19b",
- "category": "biolink:Association",
- "subject": "MONDO:0958235",
- "original_subject": None,
+ "id": "uuid:c66e15b0-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
+ "BFO:0000001",
+ "BFO:0000016",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0012548",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
+ "UPHENO:0002530",
+ "UPHENO:0002976",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "UBERON:0000468",
+ "UBERON:0011216",
"BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
+ "UBERON:0000062",
+ "HP:0000118",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "BFO:0000002",
+ "BFO:0000001",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0003011",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UPHENO:0002568",
+ "HP:0000001",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "UPHENO:0002536",
+ "BFO:0000004",
+ "UPHENO:0001002",
+ "HP:0011805",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0076710",
+ "HP:0012548",
"BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
],
- "object_label": "Ullrich congenital muscular dystrophy",
+ "object_label": "Fatty replacement of skeletal muscle",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "anatomical system",
+ "muscle organ",
"entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "material entity",
+ "anatomical entity",
+ "phenotypic effect",
+ "multicellular organism",
+ "organ system subdivision",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "quality",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "muscle structure",
+ "anatomical structure",
+ "anatomical entity morphology phenotype",
+ "organ",
+ "phenotype",
+ "continuant",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure",
+ "taxon specific phenotype",
+ "anatomical entity phenotype",
+ "entity",
+ "All",
+ "muscle organ morphology phenotype",
+ "Fatty replacement of skeletal muscle",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "continuant",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958235||biolink:subclass_of|MONDO:0000355",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0012548",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2213,175 +3402,301 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:89e5d336-99af-4738-beba-65d47ba9bc21",
- "category": "biolink:Association",
- "subject": "MONDO:0958236",
- "original_subject": None,
+ "id": "uuid:c66e15b2-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0958236",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
"BFO:0000001",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
+ "BFO:0000016",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "Ullrich congenital muscular dystrophy 1C",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001284",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
+ "UPHENO:0049622",
+ "UPHENO:0050606",
+ "UBERON:0001062",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
+ "HP:0001284",
+ "UPHENO:0049587",
+ "NBO:0000389",
+ "UPHENO:0002433",
+ "UPHENO:0002530",
+ "UPHENO:0079833",
+ "BFO:0000015",
+ "UBERON:0000468",
+ "HP:0000118",
+ "BFO:0000002",
+ "GO:0003008",
+ "UBERON:0000061",
+ "NBO:0000403",
+ "NBO:0000001",
+ "UPHENO:0049708",
+ "UPHENO:0002536",
+ "UBERON:0000467",
+ "HP:0001315",
+ "UPHENO:0049703",
+ "UBERON:0010000",
+ "UPHENO:0001001",
"BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
+ "UPHENO:0002963",
+ "HP:0011446",
+ "UPHENO:0049699",
+ "HP:0031826",
+ "UPHENO:0050613",
+ "UPHENO:0079826",
+ "UPHENO:0004523",
+ "UPHENO:0002525",
+ "BFO:0000003",
+ "GO:0009605",
+ "GO:0050879",
+ "GO:0007610",
+ "HP:0000001",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "UPHENO:0050875",
+ "UBERON:0000465",
+ "BFO:0000001",
+ "BFO:0000004",
+ "GO:0050882",
+ "NBO:0000338",
+ "GO:0050905",
+ "UPHENO:0001002",
+ "GO:0050896",
+ "GO:0032501",
+ "GO:0050881",
+ "NBO:0000313",
+ "GO:0050877",
+ "UBERON:0001016",
+ "NBO:0000388",
+ "HP:0100022",
+ "HP:0000708",
+ "PATO:0000001",
+ "GO:0008150",
+ "BFO:0000040",
+ "GO:0060004",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "UPHENO:0050106",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
"BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
],
- "object_label": "Ullrich congenital muscular dystrophy",
+ "object_label": "Areflexia",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "multicellular organismal movement phenotype",
+ "biological_process phenotype",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
"entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
+ "anatomical entity",
+ "musculoskeletal movement",
+ "behavior process",
+ "nervous system process",
+ "phenotypic effect",
+ "Atypical behavior",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "neuromuscular process phenotype",
+ "behavior phenotype",
+ "entity",
+ "process",
+ "nervous system physiology phenotype",
+ "reflexive behavior",
+ "musculoskeletal movement phenotype",
+ "behavior process phenotype",
+ "nervous system phenotype",
+ "taxon specific phenotype",
+ "system process",
+ "anatomical structure",
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "Areflexia",
+ "anatomical system phenotype",
+ "quality",
+ "reflex",
+ "multicellular organism",
+ "phenotype",
+ "Abnormality of mental function",
+ "nervous system process phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "voluntary movement behavior",
+ "body part movement",
+ "Abnormality of movement",
+ "Phenotypic abnormality",
+ "voluntary musculoskeletal movement phenotype",
+ "response to stimulus",
+ "multicellular organismal process",
+ "multicellular anatomical structure",
+ "involuntary movement behavior",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "occurrent",
+ "All",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "biological_process",
+ "material entity",
+ "nervous system",
+ "Abnormal reflex",
+ "independent continuant",
+ "Reduced tendon reflexes",
+ "system process phenotype",
+ "voluntary movement behavior phenotype",
+ "anatomical entity phenotype",
+ "continuant",
+ "response to external stimulus",
+ "multicellular organismal movement",
+ "behavior",
+ "voluntary musculoskeletal movement",
+ "kinesthetic behavior",
+ "neuromuscular process",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958236||biolink:subclass_of|MONDO:0000355",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001284",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2389,171 +3704,311 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:87e4a926-68eb-4211-8062-81a54a0514e4",
- "category": "biolink:Association",
- "subject": "MONDO:0958353",
- "original_subject": None,
+ "id": "uuid:c66e15b3-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0958353",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000016",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
+ "BFO:0000001",
+ "BFO:0000016",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "intermediate collagen VI-related muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0958077",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001337",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UPHENO:0049622",
+ "UPHENO:0050606",
+ "UPHENO:0051197",
+ "UPHENO:0051246",
+ "UPHENO:0049587",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "UBERON:0000061",
+ "UBERON:0000468",
+ "GO:0003010",
+ "UPHENO:0051267",
+ "UPHENO:0002530",
+ "UPHENO:0079833",
+ "BFO:0000015",
+ "HP:0001337",
+ "HP:0011442",
+ "UPHENO:0051196",
+ "HP:0000118",
+ "GO:0007610",
+ "GO:0003008",
+ "NBO:0000403",
+ "NBO:0000001",
+ "GO:0006941",
+ "UPHENO:0002433",
+ "UPHENO:0049708",
+ "UPHENO:0002536",
+ "UBERON:0001062",
+ "UBERON:0000467",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
+ "UPHENO:0049703",
+ "BFO:0000001",
+ "GO:0008150",
+ "UBERON:0010000",
+ "UPHENO:0001001",
"BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UPHENO:0002963",
+ "HP:0011446",
+ "UPHENO:0049699",
+ "UPHENO:0050613",
+ "UPHENO:0079826",
+ "UPHENO:0004523",
+ "HP:0004305",
+ "BFO:0000003",
+ "BFO:0000002",
+ "GO:0050879",
+ "HP:0000001",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "UPHENO:0050875",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "BFO:0000004",
+ "GO:0050882",
+ "NBO:0000338",
+ "GO:0050905",
+ "GO:0006936",
+ "UPHENO:0001002",
+ "PATO:0000001",
+ "GO:0032501",
+ "GO:0050881",
+ "NBO:0000313",
+ "GO:0050877",
+ "GO:0003012",
+ "UBERON:0001016",
+ "UPHENO:0051293",
+ "GO:0003009",
+ "HP:0100022",
+ "HP:0000708",
+ "BFO:0000040",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "UPHENO:0050106",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
],
- "object_label": "collagen 6-related congenital muscular dystrophy",
+ "object_label": "Tremor",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "nervous system physiology phenotype",
+ "multicellular organismal movement phenotype",
+ "skeletal muscle contraction phenotype",
+ "biological_process phenotype",
+ "entity",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "musculoskeletal movement",
+ "behavior process",
+ "nervous system process",
+ "muscle system process",
+ "phenotypic effect",
+ "Atypical behavior",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "neuromuscular process phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ "behavior phenotype",
+ "process",
+ "anatomical structure",
+ "muscle contraction phenotype",
+ "muscle system process phenotype",
+ "voluntary skeletal muscle contraction",
+ "musculoskeletal movement phenotype",
+ "behavior process phenotype",
+ "nervous system phenotype",
+ "anatomical entity",
+ "taxon specific phenotype",
+ "behavior",
+ "system process",
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "biological_process",
+ "phenotype",
"continuant",
+ "Abnormality of mental function",
+ "nervous system process phenotype",
+ "material anatomical entity",
+ "Tremor",
+ "Abnormal central motor function",
+ "striated muscle contraction phenotype",
+ "quality",
+ "voluntary movement behavior",
+ "body part movement",
+ "striated muscle contraction",
+ "Abnormality of movement",
+ "voluntary skeletal muscle contraction phenotype",
+ "Phenotypic abnormality",
+ "voluntary musculoskeletal movement phenotype",
+ "multicellular organismal process",
+ "multicellular anatomical structure",
+ "skeletal muscle contraction",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
"entity",
- "congenital muscular dystrophy",
+ "occurrent",
+ "continuant",
+ "All",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "material entity",
+ "nervous system",
+ "Involuntary movements",
+ "independent continuant",
+ "system process phenotype",
+ "voluntary movement behavior phenotype",
+ "anatomical entity phenotype",
+ "multicellular organismal movement",
+ "voluntary musculoskeletal movement",
+ "kinesthetic behavior",
+ "neuromuscular process",
+ "muscle contraction",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958353||biolink:subclass_of|MONDO:0958077",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001337",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2561,179 +4016,259 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:f170926f-95a4-42ad-991e-c6ef1fcb6f75",
- "category": "biolink:Association",
- "subject": "MONDO:0971171",
- "original_subject": None,
+ "id": "uuid:c66e15b4-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
"MONDO:0019056",
- "MONDO:0100546",
+ "MONDO:0003620",
+ "MONDO:0005336",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
"OGMS:0000031",
+ "MONDO:0024257",
"MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
+ "MONDO:0024237",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
- "MONDO:0016971",
+ "MONDO:0100546",
+ "BFO:0000017",
+ "BFO:0000001",
+ "BFO:0000016",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "BFO:0000017",
- "MONDO:0971171",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "autosomal recessive limb-girdle muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "autosomal genetic disease",
- "disposition",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003701",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
+ "HP:0001324",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "HP:0033127",
+ "UBERON:0011216",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0000118",
+ "UBERON:0000061",
+ "UPHENO:0002526",
+ "UPHENO:0080555",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "UPHENO:0080556",
+ "BFO:0000001",
+ "UBERON:0010000",
+ "UPHENO:0003047",
+ "HP:0003701",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "UPHENO:0002568",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002816",
+ "UPHENO:0002385",
+ "UBERON:0000465",
+ "BFO:0000004",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "PATO:0000001",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0002267",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0003847",
- "MONDO:0000001",
],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "object_label": "Proximal muscle weakness",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "limb-girdle muscular dystrophy",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "entity",
+ "material entity",
+ "anatomical entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "organ system subdivision",
+ "Muscle weakness",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "quality",
+ "organ",
+ "multicellular organism",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
"entity",
+ "continuant",
+ "All",
+ "continuant",
+ "material anatomical entity physiology phenotype",
+ "phenotype",
+ "muscle structure phenotype",
+ "Proximal muscle weakness",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "decreased muscle organ strength",
+ "organ phenotype",
+ "anatomical entity phenotype",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0971171||biolink:subclass_of|MONDO:0015152",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003701",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2741,167 +4276,229 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "urn:uuid:0cf00103-088b-4832-b0db-27a8c44d47e5",
- "category": "biolink:Association",
- "subject": "MONDO:1040033",
- "original_subject": None,
+ "id": "uuid:c66e15b5-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:1040033",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000020",
- "MONDO:0019950",
+ "BFO:0000017",
+ "BFO:0000001",
+ "BFO:0000016",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "subject_label": "congenital muscular dystrophy without intellectual disability",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
+ "myopathy",
"entity",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
- "congenital muscular dystrophy without intellectual disability",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
],
"subject_taxon": None,
"subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001250",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "UBERON:0001062",
+ "UBERON:0000468",
+ "UPHENO:0001001",
+ "UPHENO:0002433",
+ "UPHENO:0002530",
+ "HP:0000118",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
+ "UBERON:0000061",
+ "UBERON:0000467",
+ "UBERON:0010000",
"BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UPHENO:0002963",
+ "UPHENO:0004523",
+ "UPHENO:0002525",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002385",
+ "HP:0012638",
+ "UBERON:0000465",
+ "UPHENO:0002536",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0001016",
+ "HP:0001250",
+ "UPHENO:0001002",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
+ "BFO:0000001",
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Seizure",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "Seizure",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "anatomical entity",
+ "anatomical structure physiology phenotype",
+ "Abnormal nervous system physiology",
+ "multicellular organism",
+ "entity",
+ "nervous system physiology phenotype",
+ "phenotypic effect",
+ "nervous system phenotype",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "quality",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "multicellular anatomical structure",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "anatomical entity phenotype",
+ "All",
+ "continuant",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "material entity",
+ "nervous system",
+ "phenotype",
+ "independent continuant",
+ "continuant",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": None,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:1040033||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001250",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040284",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2909,121 +4506,325 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "191417f1-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:3817493",
- "original_subject": None,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
- "subject_closure": None,
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
- "subject_closure_label": None,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "original_object": "DOID:11727",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
- "MONDO:0016106",
+ "id": "uuid:c66e15b7-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
+ "subject_namespace": "MONDO",
+ "subject_category": "biolink:Disease",
+ "subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
"BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "premature aging syndrome",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "subject_taxon": None,
+ "subject_taxon_label": None,
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001605",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "UPHENO:0075901",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "BFO:0000001",
+ "UPHENO:0002433",
+ "UPHENO:0002530",
+ "NBO:0000644",
+ "UBERON:0000062",
+ "UBERON:0004111",
+ "UBERON:0000468",
+ "UPHENO:0004536",
+ "HP:0031801",
+ "HP:0011442",
+ "UPHENO:0002731",
+ "HP:0000118",
+ "UPHENO:0002531",
+ "UPHENO:0078735",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UPHENO:0002526",
+ "UPHENO:0002988",
+ "HP:0002086",
+ "UBERON:0000467",
+ "UBERON:0000072",
+ "UBERON:0002486",
+ "UBERON:0000065",
+ "UPHENO:0075930",
+ "HP:0001605",
+ "BFO:0000002",
+ "HP:0003470",
+ "NBO:0000009",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UPHENO:0002963",
+ "NBO:0000243",
+ "UPHENO:0002308",
+ "UPHENO:0004523",
+ "UBERON:0004119",
+ "UPHENO:0002360",
+ "HP:0002087",
+ "NBO:0000568",
+ "HP:0000001",
+ "UPHENO:0002313",
+ "UPHENO:0002574",
+ "UPHENO:0002385",
+ "UPHENO:0002734",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0034681",
+ "UBERON:0003103",
+ "UBERON:0000025",
+ "UPHENO:0002448",
+ "UPHENO:0081700",
+ "UPHENO:0002536",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0003706",
+ "UBERON:0001557",
+ "UBERON:0001737",
+ "UPHENO:0001002",
+ "UPHENO:0081708",
+ "HP:0002795",
+ "NBO:0000032",
+ "UBERON:0015212",
+ "UBERON:0000064",
+ "UBERON:0001004",
+ "UBERON:0001016",
+ "UPHENO:0002386",
+ "UPHENO:0002568",
+ "HP:0001600",
+ "HP:0012252",
+ "PATO:0000001",
+ "UBERON:0001005",
+ "UBERON:0013522",
+ "UPHENO:0002269",
+ "HP:0001608",
+ "HP:0000707",
+ "UPHENO:0003032",
+ "UPHENO:0002267",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
+ ],
+ "object_label": "Vocal cord paralysis",
+ "object_closure_label": [
+ "organ physiology phenotype",
+ "entity",
+ "anatomical system",
+ "proximo-distal subdivision of respiratory tract",
+ "glottis",
+ "respiratory tract",
+ "anatomical system physiology phenotype",
+ "Abnormality of the voice",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "Abnormality of the larynx",
+ "material entity",
+ "anatomical entity",
+ "lateral structure",
+ "phenotypic effect",
+ "paralysed laryngeal vocal fold",
+ "anatomical structure physiology phenotype",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "organ part phenotype",
+ "entity",
+ "voluntary movement behavior phenotype",
+ "upper respiratory tract",
+ "larynx",
+ "nervous system physiology phenotype",
+ "vocal organ phenotype",
+ "Abnormal respiratory system morphology",
+ "multicellular anatomical structure physiology phenotype",
+ "nervous system phenotype",
+ "behavioral phenotype",
+ "endoderm-derived structure",
+ "paralysed anatomical entity",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "vocal organ",
+ "compound organ",
+ "tube",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "quality",
+ "locomotory behavior phenotype",
+ "organ",
+ "anatomical conduit",
+ "multicellular organism",
+ "phenotype",
+ "continuant",
+ "endoderm-derived structure phenotype",
+ "material anatomical entity",
+ "respiratory system phenotype",
+ "Vocal cord dysfunction",
+ "Abnormal central motor function",
+ "Abnormal respiratory system physiology",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "Abnormality of the respiratory system",
+ "paralysis",
+ "multicellular anatomical structure",
+ "upper respiratory tract phenotype",
+ "Vocal cord paralysis",
+ "specifically dependent continuant",
+ "anatomical entity phenotype",
+ "kinesthetic behavior phenotype",
+ "All",
+ "endoderm-derived structure physiology phenotype",
+ "Abnormality of the nervous system",
+ "larynx phenotype",
+ "material anatomical entity physiology phenotype",
+ "organ part",
+ "respiratory system",
+ "nervous system",
+ "lateral structure physiology phenotype",
+ "Abnormality of the upper respiratory tract",
+ "independent continuant",
+ "respiratory airway",
+ "subdivision of tube",
+ "respiratory system physiology phenotype",
+ "Paralysis",
+ "organ phenotype",
+ "subdivision of tube phenotype",
+ "laryngeal vocal fold physiology phenotype",
+ "continuant",
+ "laryngeal vocal fold",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": True,
"pathway": None,
- "evidence_count": 0,
+ "evidence_count": 1,
"knowledge_level": "knowledge_assertion",
"agent_type": "manual_agent",
- "has_evidence": None,
- "has_evidence_links": [],
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MGI:3817493||biolink:model_of|MONDO:0001347",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "MONDO:0013711|NOT|biolink:has_phenotype|HP:0001605",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
@@ -3035,115 +4836,335 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "19141853-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5529018",
- "original_subject": None,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
- "subject_closure": None,
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
- "subject_closure_label": None,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "original_object": "DOID:11723",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
+ "id": "uuid:c66e15b8-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
+ "subject_namespace": "MONDO",
+ "subject_category": "biolink:Disease",
+ "subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "BFO:0000020",
+ "BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
- "MONDO:0010679",
+ "MONDO:0002545",
],
- "object_label": "Duchenne muscular dystrophy",
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
- "continuant",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "disposition",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "Duchenne muscular dystrophy",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "subject_taxon": None,
+ "subject_taxon_label": None,
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002015",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "UPHENO:0002725",
+ "UBERON:0001062",
+ "UBERON:0005178",
+ "UBERON:0004908",
+ "UPHENO:0002282",
+ "UBERON:0000468",
+ "UBERON:0000064",
+ "UPHENO:0001001",
+ "UPHENO:0002433",
+ "UPHENO:0002530",
+ "UPHENO:0002304",
+ "UBERON:0000062",
+ "UBERON:0004111",
+ "UBERON:0005181",
+ "UBERON:0002075",
+ "UBERON:0001555",
+ "UBERON:0002100",
+ "UPHENO:0002465",
+ "HP:0000118",
+ "UPHENO:0002531",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UPHENO:0002526",
+ "UPHENO:0002634",
+ "UPHENO:0002988",
+ "UPHENO:0002422",
+ "UPHENO:0002536",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UBERON:0005409",
+ "UPHENO:0002443",
+ "BFO:0000001",
+ "BFO:0000020",
+ "UPHENO:0002963",
+ "UBERON:0001043",
+ "UBERON:0004921",
+ "UPHENO:0002833",
+ "HP:0002015",
+ "HP:0025032",
+ "UPHENO:0002308",
+ "UPHENO:0004523",
+ "UPHENO:0002525",
+ "UBERON:0011676",
+ "UBERON:0013701",
+ "UBERON:0009569",
+ "UPHENO:0003084",
+ "UPHENO:0002471",
+ "HP:0025270",
+ "UPHENO:0002568",
+ "HP:0000001",
+ "BFO:0000002",
+ "UPHENO:0002385",
+ "UPHENO:0004486",
+ "UPHENO:0002294",
+ "HP:0025031",
+ "UPHENO:0002474",
+ "HP:0012638",
+ "UBERON:0000465",
+ "UBERON:0013702",
+ "UBERON:0013765",
+ "UBERON:0005177",
+ "UBERON:0000025",
+ "UPHENO:0002464",
+ "HP:0011024",
+ "UPHENO:0002994",
+ "UPHENO:0003086",
+ "BFO:0000004",
+ "UPHENO:0003088",
+ "UBERON:0001007",
+ "UBERON:0001016",
+ "UBERON:0000915",
+ "UPHENO:0002393",
+ "UPHENO:0002386",
+ "HP:0012719",
+ "UPHENO:0001002",
+ "UPHENO:0002295",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000475",
+ "UBERON:0013522",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0002267",
+ "UPHENO:0082875",
+ "UPHENO:0001003",
+ "UPHENO:0002546",
+ "BFO:0000001",
+ "RO:0002577",
+ ],
+ "object_label": "Dysphagia",
+ "object_closure_label": [
+ "organ part physiology phenotype",
+ "trunk region element physiology phenotype",
+ "organ physiology phenotype",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "alimentary part of gastrointestinal system",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "entity",
+ "anatomical entity",
+ "thoracic cavity element",
+ "upper digestive tract",
+ "anatomical structure physiology phenotype",
+ "esophagus phenotype",
+ "subdivision of tube physiology phenotype",
+ "Abnormality of the digestive system",
+ "esophagus physiology phenotype",
+ "Abnormal nervous system physiology",
+ "multicellular organism",
+ "organ part",
+ "esophagus",
+ "subdivision of digestive tract",
+ "alimentary part of gastrointestinal system phenotype",
+ "organ part phenotype",
+ "nervous system physiology phenotype",
+ "viscus physiology phenotype",
+ "phenotypic effect",
+ "Abnormality of digestive system physiology",
+ "multicellular anatomical structure physiology phenotype",
+ "nervous system phenotype",
+ "thoracic segment organ phenotype",
+ "alimentary part of gastrointestinal system physiology phenotype",
+ "Abnormal esophagus physiology",
+ "subdivision of digestive tract phenotype",
+ "taxon specific phenotype",
+ "digestive system element phenotype",
+ "anatomical structure",
+ "body proper",
+ "digestive system element",
+ "trunk region element",
+ "tube",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "quality",
+ "organ",
+ "anatomical conduit",
+ "thoracic segment of trunk",
+ "anatomical structure phenotype",
+ "material anatomical entity",
+ "trunk region element phenotype",
+ "Functional abnormality of the gastrointestinal tract",
+ "thoracic cavity element physiology phenotype",
+ "Phenotypic abnormality",
+ "digestive system physiology phenotype",
+ "specifically dependent continuant",
+ "thoracic cavity element phenotype",
"entity",
+ "system",
+ "thoracic segment organ",
+ "viscus",
+ "digestive tract",
+ "trunk",
+ "All",
+ "continuant",
+ "digestive system element physiology phenotype",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "material entity",
+ "digestive system",
+ "nervous system",
+ "subdivision of organism along main body axis",
+ "main body axis",
+ "subdivision of trunk",
+ "phenotype",
+ "digestive system phenotype",
+ "Dysphagia",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "organism subdivision",
+ "subdivision of tube",
+ "thoracic segment organ physiology phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "subdivision of digestive tract physiology phenotype",
+ "organ phenotype",
+ "viscus phenotype",
+ "subdivision of tube phenotype",
+ "anatomical entity phenotype",
+ "continuant",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": True,
"pathway": None,
- "evidence_count": 0,
+ "evidence_count": 1,
"knowledge_level": "knowledge_assertion",
"agent_type": "manual_agent",
- "has_evidence": None,
- "has_evidence_links": [],
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MGI:5529018||biolink:model_of|MONDO:0010679",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "MONDO:0013711|NOT|biolink:has_phenotype|HP:0002015",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
@@ -3155,119 +5176,267 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "1914187f-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:6438177",
- "original_subject": None,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
- "subject_closure": None,
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
- "subject_closure_label": None,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "original_object": "DOID:11723",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
+ "id": "uuid:c66e15b6-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
+ "subject_namespace": "MONDO",
+ "subject_category": "biolink:Disease",
+ "subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "BFO:0000020",
+ "BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
- "MONDO:0010679",
+ "MONDO:0002545",
],
- "object_label": "Duchenne muscular dystrophy",
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
- "continuant",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "disposition",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "Duchenne muscular dystrophy",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "subject_taxon": None,
+ "subject_taxon_label": None,
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001369",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "HP:0000924",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UPHENO:0081581",
+ "HP:0001369",
+ "HP:0033127",
+ "UBERON:0034925",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "UBERON:0034921",
+ "UPHENO:0002530",
+ "BFO:0000015",
+ "HP:0000118",
+ "BFO:0000002",
+ "UBERON:0000061",
+ "UPHENO:0076703",
+ "HP:0001367",
+ "UBERON:0000467",
+ "BFO:0000002",
+ "UPHENO:0002964",
+ "BFO:0000001",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UBERON:0000982",
+ "UPHENO:0002525",
+ "UBERON:0004770",
+ "UPHENO:0002568",
+ "BFO:0000003",
+ "GO:0006950",
+ "HP:0000001",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0002536",
+ "BFO:0000004",
+ "UBERON:0001434",
+ "PATO:0000001",
+ "UPHENO:0076767",
+ "GO:0050896",
+ "UBERON:0002204",
+ "GO:0006954",
+ "HP:0011842",
+ "UPHENO:0001002",
+ "GO:0008150",
+ "BFO:0000040",
+ "GO:0006952",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UBERON:0004905",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "UBERON:0000465",
+ ],
+ "object_label": "Arthritis",
+ "object_closure_label": [
+ "Abnormal joint morphology",
+ "anatomical system",
+ "material anatomical entity phenotype",
+ "entity",
+ "anatomical entity",
+ "multicellular organism",
+ "organ system subdivision",
+ "multi organ part structure",
+ "skeletal joint",
+ "Abnormality of the skeletal system",
+ "process",
+ "anatomical collection",
+ "inflammatory response",
+ "skeletal system",
+ "multicellular organism morphology phenotype",
+ "Arthritis",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal morphology",
+ "phenotypic effect",
+ "articular system",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "anatomical entity morphology phenotype",
+ "defense response",
+ "phenotype",
+ "continuant",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "quality",
+ "skeletal joint morphology phenotype",
+ "Phenotypic abnormality",
+ "response to stimulus",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "anatomical entity phenotype",
"entity",
+ "occurrent",
+ "material anatomical entity",
+ "All",
+ "biological_process",
+ "material entity",
+ "musculoskeletal system",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "articulation",
+ "skeletal system phenotype",
+ "skeletal system morphology phenotype",
+ "continuant",
+ "response to stress",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
+ "evidence_count": 1,
"knowledge_level": "knowledge_assertion",
"agent_type": "manual_agent",
- "has_evidence": None,
- "has_evidence_links": [],
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MGI:6438177||biolink:model_of|MONDO:0010679",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001369",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040284",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -3275,125 +5444,319 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
{
- "id": "1914188e-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5524138",
- "original_subject": None,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
- "subject_closure": None,
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "subject_closure_label": None,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "original_object": "DOID:11727",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
- "MONDO:0016106",
+ "id": "uuid:c66e15aa-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
+ "subject_namespace": "MONDO",
+ "subject_category": "biolink:Disease",
+ "subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
"BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
"MONDO:0000001",
+ "MONDO:0002545",
],
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "premature aging syndrome",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy",
+ ],
+ "subject_taxon": None,
+ "subject_taxon_label": None,
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007340",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "HP:0001324",
+ "HP:0003690",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UBERON:0004480",
+ "UPHENO:0080575",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "BFO:0000001",
+ "UBERON:0011216",
+ "UPHENO:0002530",
+ "UBERON:0004708",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UBERON:0007271",
+ "UBERON:0014792",
+ "UPHENO:0002861",
+ "HP:0000118",
+ "UBERON:0000061",
+ "UBERON:0010709",
+ "UPHENO:0002526",
+ "UPHENO:0002945",
+ "UPHENO:0080555",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "BFO:0000002",
+ "UPHENO:0080556",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UBERON:0010890",
+ "UPHENO:0003047",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UBERON:0018254",
+ "UBERON:0002101",
+ "UBERON:0000026",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "BFO:0000002",
+ "HP:0000001",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0002385",
+ "UPHENO:0002830",
+ "UPHENO:0003045",
+ "UPHENO:0002897",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0010707",
+ "UBERON:0014892",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "UBERON:0015212",
+ "HP:0009127",
+ "UPHENO:0002386",
+ "UPHENO:0002568",
+ "UPHENO:0002647",
+ "HP:0011805",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000475",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "HP:0040064",
+ "HP:0007340",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "PR:000050567",
+ "RO:0002577",
+ ],
+ "object_label": "Lower limb muscle weakness",
+ "object_closure_label": [
+ "Abnormality of the musculature of the limbs",
+ "paired limb/fin phenotype",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "entity",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "musculature of limb phenotype",
+ "anatomical entity",
+ "lateral structure",
+ "musculature of limb",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "limb phenotype",
+ "paired limb/fin",
+ "organ system subdivision",
+ "pelvic complex muscle",
+ "Muscle weakness",
+ "Limb muscle weakness",
+ "entity",
+ "skeletal muscle organ, vertebrate",
+ "decreased pelvic complex muscle strength",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "skeletal musculature",
+ "limb",
+ "appendage musculature phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical entity morphology phenotype",
+ "quality",
+ "Lower limb muscle weakness",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "continuant",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "appendage phenotype",
+ "pelvic complex",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "taxon specific phenotype",
+ "continuant",
+ "material anatomical entity",
+ "protein-containing material entity",
+ "system",
+ "appendage musculature",
+ "musculature of pelvic complex",
+ "All",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "Abnormality of limbs",
+ "material entity",
+ "appendage",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "independent continuant",
+ "organism subdivision",
+ "musculature of body",
+ "musculature",
+ "decreased muscle organ strength",
+ "organ phenotype",
+ "anatomical entity phenotype",
+ "appendage girdle complex",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "negated": None,
+ "primary_knowledge_source": "infores:orphanet",
+ "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:hpo-annotations"],
+ "negated": False,
"pathway": None,
- "evidence_count": 0,
+ "evidence_count": 1,
"knowledge_level": "knowledge_assertion",
"agent_type": "manual_agent",
- "has_evidence": None,
- "has_evidence_links": [],
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MGI:5524138||biolink:model_of|MONDO:0001347",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0007340",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease",
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -3401,34 +5764,40 @@ def associations():
"qualifiers_label": None,
"qualifiers_namespace": None,
"qualifiers_category": None,
+ "qualifiers_closure": None,
+ "qualifiers_closure_label": None,
"qualifier": None,
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
+ "qualifier_closure": None,
+ "qualifier_closure_label": None,
"frequency_qualifier_label": None,
"frequency_qualifier_namespace": None,
"frequency_qualifier_category": None,
+ "frequency_qualifier_closure": None,
+ "frequency_qualifier_closure_label": None,
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
+ "onset_qualifier_closure": None,
+ "onset_qualifier_closure_label": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
"sex_qualifier_category": None,
+ "sex_qualifier_closure": None,
+ "sex_qualifier_closure_label": None,
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
+ "stage_qualifier_closure": None,
+ "stage_qualifier_closure_label": None,
"disease_context_qualifier": None,
"disease_context_qualifier_label": None,
"disease_context_qualifier_namespace": None,
"disease_context_qualifier_category": None,
"disease_context_qualifier_closure": None,
"disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
},
],
- "facet_fields": [],
- "facet_queries": [],
}
diff --git a/backend/tests/fixtures/associations_compact.py b/backend/tests/fixtures/associations_compact.py
index fed6246db..fb8fd4797 100644
--- a/backend/tests/fixtures/associations_compact.py
+++ b/backend/tests/fixtures/associations_compact.py
@@ -6,189 +6,187 @@ def associations_compact():
return {
"limit": 20,
"offset": 0,
- "total": 5079,
+ "total": 5116,
"items": [
{
- "category": "biolink:Association",
- "subject": "MONDO:0100531",
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0700069",
- "object_label": "myopathy caused by variation in POMGNT2",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0800209",
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0007614",
- "object_label": "congenital fibrosis of extraocular muscles",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0800318",
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0957270",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958077",
- "subject_label": "collagen 6-related congenital muscular dystrophy",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958176",
- "subject_label": "oculopharyngeal muscular dystrophy 1",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "object_label": "oculopharyngeal muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958195",
- "subject_label": "oculopharyngeal muscular dystrophy 2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "object_label": "oculopharyngeal muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958233",
- "subject_label": "Bethlem myopathy 1B",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
- "object_label": "Bethlem myopathy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958234",
- "subject_label": "Bethlem myopathy 1C",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
- "object_label": "Bethlem myopathy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958235",
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
- "object_label": "Ullrich congenital muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958236",
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
- "object_label": "Ullrich congenital muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958353",
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0958077",
- "object_label": "collagen 6-related congenital muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0971171",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:1040033",
- "subject_label": "congenital muscular dystrophy without intellectual disability",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:3817493",
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5529018",
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "object_label": "Duchenne muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:6438177",
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "object_label": "Duchenne muscular dystrophy",
- "negated": None,
- },
- {
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5524138",
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "negated": None,
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0000762",
+ "object_label": "Decreased nerve conduction velocity",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001265",
+ "object_label": "Hyporeflexia",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001609",
+ "object_label": "Hoarse voice",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003198",
+ "object_label": "Myopathy",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003458",
+ "object_label": "EMG: myopathic abnormalities",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003557",
+ "object_label": "Increased variability in muscle fiber diameter",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0008180",
+ "object_label": "Mildly elevated creatine kinase",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0008619",
+ "object_label": "Bilateral sensorineural hearing impairment",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0009063",
+ "object_label": "Progressive distal muscle weakness",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0009830",
+ "object_label": "Peripheral neuropathy",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0010219",
+ "object_label": "Structural foot deformity",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0012548",
+ "object_label": "Fatty replacement of skeletal muscle",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001284",
+ "object_label": "Areflexia",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001337",
+ "object_label": "Tremor",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003701",
+ "object_label": "Proximal muscle weakness",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001250",
+ "object_label": "Seizure",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001605",
+ "object_label": "Vocal cord paralysis",
+ "negated": True,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002015",
+ "object_label": "Dysphagia",
+ "negated": True,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001369",
+ "object_label": "Arthritis",
+ "negated": False,
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007340",
+ "object_label": "Lower limb muscle weakness",
+ "negated": False,
},
],
- "facet_fields": [],
- "facet_queries": [],
}
diff --git a/backend/tests/fixtures/autocomplete.py b/backend/tests/fixtures/autocomplete.py
index 55f7cb86b..8bb40e69d 100644
--- a/backend/tests/fixtures/autocomplete.py
+++ b/backend/tests/fixtures/autocomplete.py
@@ -6,7 +6,7 @@ def autocomplete():
return {
"limit": 10,
"offset": 0,
- "total": 328,
+ "total": 326,
"items": [
{
"id": "MONDO:0009215",
@@ -58,27 +58,27 @@ def autocomplete():
"HP:0000028",
"HP:0001873",
"HP:0009778",
- "HP:0001896",
"HP:0009777",
+ "HP:0001000",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0001896",
"HP:0000568",
"HP:0001518",
"HP:0003221",
- "HP:0001000",
- "HP:0000252",
- "HP:0001249",
"HP:0009943",
"HP:0001627",
"HP:0000978",
"HP:0030680",
"HP:0001903",
"HP:0000957",
- "HP:0000815",
"HP:0001909",
"HP:0012210",
"HP:0000081",
"HP:0000085",
"HP:0003251",
- "HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
@@ -94,27 +94,27 @@ def autocomplete():
"Cryptorchidism",
"Thrombocytopenia",
"Short thumb",
- "Reticulocytopenia",
"Absent thumb",
+ "Abnormality of skin pigmentation",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Reticulocytopenia",
"Microphthalmia",
"Small for gestational age",
"Chromosomal breakage induced by crosslinking agents",
- "Abnormality of skin pigmentation",
- "Microcephaly",
- "Intellectual disability",
"Complete duplication of thumb phalanx",
"Abnormal heart morphology",
"Bruising susceptibility",
"Abnormal cardiovascular system morphology",
"Anemia",
"Cafe-au-lait spot",
- "Hypergonadotropic hypogonadism",
"Leukemia",
"Abnormal renal morphology",
"Duplicated collecting system",
"Horseshoe kidney",
"Male infertility",
- "Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
@@ -122,1939 +122,1893 @@ def autocomplete():
"Deficient excision of UV-induced pyrimidine dimers in DNA",
],
"has_phenotype_closure": [
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
+ "UPHENO:0051124",
+ "GO:0046483",
"UPHENO:0050116",
- "UPHENO:0049671",
+ "UPHENO:0049586",
+ "UPHENO:0049964",
"GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
+ "GO:0006950",
+ "GO:0051716",
+ "HP:0003213",
+ "UPHENO:0050121",
+ "GO:0051319",
+ "GO:0007049",
+ "HP:0003214",
"UPHENO:0052160",
"UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
+ "GO:0007605",
+ "GO:0009987",
+ "HP:0000365",
+ "UPHENO:0005596",
"UBERON:0002105",
- "UPHENO:0005517",
+ "UPHENO:0052159",
+ "UPHENO:0052970",
+ "UPHENO:0050625",
+ "UPHENO:0049699",
+ "UPHENO:0049703",
+ "GO:0006807",
"HP:0031704",
- "GO:0007605",
+ "UPHENO:0049989",
+ "UPHENO:0005512",
+ "GO:0050954",
+ "UPHENO:0005518",
"UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
"HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
+ "HP:0000708",
+ "NBO:0000444",
+ "UPHENO:0002219",
+ "NBO:0000338",
+ "UPHENO:0079828",
+ "GO:0007610",
+ "UPHENO:0002211",
+ "HP:0000496",
+ "HP:0011018",
+ "UBERON:0000015",
+ "UBERON:0010222",
+ "BFO:0000141",
+ "HP:0000486",
"UPHENO:0000543",
"HP:0001510",
"HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000789",
- "HP:0012041",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
"UPHENO:0041226",
+ "UPHENO:0041465",
+ "GO:0007600",
+ "UPHENO:0041075",
"UPHENO:0041629",
- "UPHENO:0080300",
- "HP:0000081",
- "HP:0004742",
"UPHENO:0075787",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "UPHENO:0053612",
- "HP:0100542",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
+ "UPHENO:0054970",
+ "UPHENO:0050234",
"UPHENO:0080662",
- "HP:0001903",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
+ "UPHENO:0054957",
"HP:0002597",
- "UPHENO:0002576",
- "UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004507",
- "UPHENO:0004827",
+ "HP:0001933",
+ "GO:0071704",
+ "MPATH:105",
+ "UPHENO:0002678",
+ "UBERON:0007798",
"MPATH:603",
- "UPHENO:0003086",
- "HP:0004377",
"MPATH:119",
+ "GO:0006139",
+ "HP:0011354",
+ "UBERON:0000477",
+ "MPATH:0",
+ "HP:0001892",
+ "MPATH:1000",
"UBERON:0000948",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0009142",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
- "UBERON:5101463",
- "HP:0001933",
+ "HP:0001627",
+ "HP:0030680",
+ "HP:0001626",
+ "UBERON:0001009",
+ "UPHENO:0050019",
+ "UBERON:0005181",
+ "UBERON:0005178",
"UBERON:0015063",
"UBERON:5106048",
+ "UBERON:5102389",
"UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
- "UBERON:0003620",
- "UBERON:0012358",
+ "UBERON:0011818",
+ "HP:0011314",
+ "UBERON:0015023",
+ "UBERON:0015024",
+ "UBERON:5101463",
+ "GO:0090304",
+ "UBERON:0012150",
+ "HP:0009942",
"HP:0009943",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "GO:0050877",
- "HP:0001249",
- "UPHENO:0002433",
- "HP:0012638",
- "UPHENO:0002267",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0076702",
- "UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
- "UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
- "UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
- "UBERON:0001890",
- "UPHENO:0050008",
- "UPHENO:0053610",
- "GO:0048523",
+ "UBERON:0003221",
+ "UBERON:0012357",
+ "GO:0005623",
+ "UPHENO:0049757",
+ "UPHENO:0049775",
+ "UPHENO:0050784",
+ "HP:0009602",
"UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "HP:0001939",
+ "NBO:0000313",
+ "GO:0010558",
+ "GO:0031327",
+ "UBERON:0000915",
+ "UPHENO:0050065",
"UPHENO:0049904",
+ "GO:0050794",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
+ "GO:0008152",
+ "GO:0051325",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0031323",
+ "UBERON:0004100",
+ "GO:0009892",
+ "UPHENO:0050025",
+ "UPHENO:0049622",
+ "UPHENO:0050435",
+ "UBERON:0000466",
+ "UPHENO:0049868",
+ "GO:0042592",
+ "UPHENO:0049743",
+ "UPHENO:0050063",
+ "UBERON:0002075",
+ "GO:0031049",
+ "GO:0031052",
"GO:0010556",
+ "GO:0031326",
"GO:0009890",
- "HP:0001000",
+ "HP:0011276",
+ "UBERON:0005897",
"GO:0010605",
"GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
+ "GO:0050789",
+ "HP:0003221",
+ "GO:0010629",
+ "UPHENO:0050040",
"UPHENO:0050778",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "HP:0003251",
- "GO:0008150",
- "UPHENO:0002378",
- "UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "GO:0040007",
+ "UPHENO:0010850",
"UPHENO:0054374",
+ "UBERON:0010543",
"HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
+ "UPHENO:0054304",
+ "UPHENO:0010808",
+ "GO:0006974",
+ "HP:0004323",
+ "UPHENO:0049874",
+ "UBERON:0010230",
+ "UPHENO:0049642",
+ "UBERON:0001456",
+ "UBERON:0004088",
+ "UBERON:0004456",
+ "UBERON:0000019",
+ "HP:0000568",
+ "HP:0000315",
"UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
"HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
- "UPHENO:3000007",
+ "HP:0011793",
+ "UPHENO:0002928",
+ "UPHENO:0087924",
+ "HP:0000478",
+ "UPHENO:0002866",
+ "HP:0100887",
+ "UPHENO:0002910",
+ "GO:0033554",
"UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
+ "HP:0000978",
+ "UPHENO:3000007",
"UPHENO:0069161",
- "UPHENO:0004757",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
- "UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
+ "UPHENO:0075219",
+ "HP:0001896",
"UPHENO:0052178",
- "UBERON:0011582",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UPHENO:0025545",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UPHENO:0025135",
- "GO:0060255",
- "UPHENO:0026074",
- "UPHENO:0011533",
- "UPHENO:9002003",
- "GO:0008152",
+ "UPHENO:0005517",
+ "UPHENO:0085263",
"UPHENO:0086002",
- "UPHENO:0025546",
- "UPHENO:0025509",
- "UPHENO:0075219",
- "UPHENO:0009295",
- "UBERON:0008785",
- "GO:0006139",
- "UPHENO:0041075",
- "UPHENO:0026108",
- "UBERON:0002102",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "HP:0002011",
- "UPHENO:0011492",
- "UPHENO:0025808",
- "HP:0006503",
- "UPHENO:0002782",
- "UBERON:5002544",
- "UPHENO:0026806",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0026239",
- "UPHENO:0003055",
- "UBERON:0002113",
- "UPHENO:0086633",
- "HP:0011893",
- "UPHENO:0002642",
- "UBERON:0005451",
- "GO:0007049",
- "UBERON:0003103",
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],
"has_phenotype_closure_label": [
- "primary metabolic process",
- "cellular response to stimulus",
"response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
"interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
+ "ear",
"sensory perception",
- "Abnormality of the ear",
"decreased sensory perception",
- "cell cycle",
+ "decreased nervous system process",
"decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
"decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
"anatomical line",
- "ectoderm-derived structure physiology phenotype",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
"eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
"size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
- "Male infertility",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Decreased fertility in males",
"Decreased fertility",
- "shape kidney",
- "Abnormal localization of kidney",
+ "Male infertility",
+ "3-D shape anatomical entity",
+ "Abnormality of eye movement",
"concave 3-D shape anatomical entity",
"shape anatomical entity",
"Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
"Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
"Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "ear phenotype",
- "increased pigmentation",
- "glandular system",
- "Cafe-au-lait spot",
- "Hypermelanotic macule",
- "Hyperpigmentation of the skin",
+ "Leukemia",
+ "neoplasm phenotype",
+ "biological_process rate phenotype",
"increased qualitatively biological_process",
- "anatomical cluster",
- "Abnormal bleeding",
+ "Localized skin lesion",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
+ "Macule",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
"Generalized abnormality of skin",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "heart phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "circulatory organ phenotype",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
+ "Vascular skin abnormality",
+ "vasculature",
"Abnormal heart morphology",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "Abnormality of the cardiovascular system",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "Duplication of thumb phalanx",
"Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
"manual digit 1 phalanx",
- "phalanx of manus",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
"phalanx",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "macromolecule metabolic process",
- "Intellectual disability",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Neurodevelopmental abnormality",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of skin pigmentation",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
"regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
+ "regulation of biosynthetic process",
"negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
"regulation of cellular biosynthetic process",
+ "DNA metabolic process",
"negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "decreased qualitatively system process",
- "Abnormality of the nervous system",
- "biological regulation phenotype",
- "regulation of gene expression",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
+ "Chromosomal breakage induced by crosslinking agents",
"negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
"multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
"camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
"Abnormality of the eye",
- "eye",
- "face",
+ "face phenotype",
"orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
+ "sense organ",
"Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
"eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent radius bone in the forelimb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "Short stature",
- "radius bone",
- "absent compound organ in the renal system",
- "blood cell",
- "Abnormality of the immune system",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "decreased biological_process",
- "Absent radius",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "material anatomical entity phenotype",
- "head morphology phenotype",
- "immune system phenotype",
- "cell",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
+ "enucleated reticulocyte morphology phenotype",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "immaterial entity",
+ "Abnormality of chromosome stability",
+ "anatomical entity dysfunction in independent continuant",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "decreased functionality of the organ",
+ "reproductive system physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the material anatomical entity",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the anatomical entity",
+ "endocrine system phenotype",
+ "Opisthokonta",
+ "Abnormal brain morphology",
+ "Abnormal skull morphology",
+ "Abnormality of head or neck",
+ "regional part of nervous system",
+ "brain",
+ "regional part of brain",
+ "craniocervical region phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "cranial skeletal system",
+ "structure with developmental contribution from neural crest",
+ "head phenotype",
+ "telencephalon",
+ "Abnormal axial skeleton morphology",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "organism",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "size of skull phenotype",
+ "craniocervical region",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormality of body weight",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased multicellular organismal process",
+ "root",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "postcranial axial skeleton",
+ "axial skeleton plus cranial skeleton",
+ "structure with developmental contribution from neural crest phenotype",
+ "organic substance metabolic process",
+ "heart",
+ "Abnormality of the head",
+ "Infertility",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "kinesthetic behavior",
+ "Eumetazoa",
+ "skull phenotype",
+ "telencephalon morphology phenotype",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
+ "localised cavitated compound organ",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "localised trunk region element",
+ "Abnormal localization of kidney",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "Aplasia involving bones of the extremities",
+ "All",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "G2 phase",
"nervous system phenotype",
+ "paired limb/fin segment phenotype",
+ "Aplasia involving bones of the upper limbs",
+ "Morphological central nervous system abnormality",
+ "Abnormality of the urinary system",
+ "limb long bone",
+ "eye",
+ "compound organ",
+ "zeugopodial skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "genitourinary system",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
"limb phenotype",
- "absent bone of pectoral complex in the forelimb",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "absent bone of pectoral complex in the limb",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "trunk phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent kidney in the renal system",
- "Abnormal finger phalanx morphology",
+ "paired limb/fin skeleton",
+ "agenesis of anatomical entity",
+ "absent bone of free limb or fin in the limb",
+ "absent lateral structure",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "subdivision of skeleton",
+ "decreased length of autopodial extension",
+ "ectoderm-derived structure",
+ "bone of appendage girdle complex",
+ "Abnormal forebrain morphology",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "pathological phenotype observation",
+ "decreased functionality of the gonad",
"decreased size of the anatomical entity in the pectoral complex",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "aplastic forelimb zeugopod bone",
+ "absent limb bone in the limb",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "absent arm bone in the forelimb",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "cardiovascular system",
+ "absent skeletal element",
+ "aplastic anatomical entity",
+ "arm phenotype",
+ "hematopoietic system",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "testis phenotype",
+ "upper urinary tract phenotype",
+ "absent compound organ",
+ "decreased size of the organism subdivision",
+ "Renal hypoplasia/aplasia",
+ "digit phenotype",
+ "renal system",
+ "absent manual digit",
+ "absent anatomical entity in the renal system",
+ "cell",
+ "limb",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "main body axis",
+ "gonad physiology phenotype",
+ "forebrain",
"myeloid leukocyte phenotype",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "absent abdomen element in the renal system",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "subdivision of trunk phenotype",
- "abdominal segment element phenotype",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
+ "localised multicellular anatomical structure",
+ "excretory system",
+ "cellular process",
+ "long bone morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "absent material anatomical entity in the multicellular organism",
"lateral structure phenotype",
- "material anatomical entity mass phenotype",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "absent trunk region element in the renal system",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "forelimb long bone",
+ "localised male reproductive organ",
+ "Abnormal conjugate eye movement",
+ "forelimb bone",
+ "renal/urinary system phenotype",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "appendicular skeletal system",
+ "Renal agenesis",
+ "Abnormality of the kidney",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "cell cycle",
+ "pectoral complex",
+ "decreased size of the material anatomical entity",
"body proper",
- "face morphology phenotype",
- "subdivision of trunk",
- "absent forelimb long bone in the forelimb",
- "endocrine system phenotype",
- "reproductive system",
- "organism subdivision phenotype",
- "absent multicellular anatomical structure in the renal system",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "upper limb segment phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "multicellular anatomical structure",
- "absent material anatomical entity in the renal system",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "continuant",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "cellular process phenotype",
"absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "heart",
- "limb bone phenotype",
- "renal system",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "absent bone element in the forelimb",
- "lateral structure",
- "absent lateral structure in the renal system",
- "organ phenotype",
- "skeleton",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "genitourinary system phenotype",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "number of anatomical enitites of type kidney phenotype",
- "bone cell",
- "trunk region element phenotype",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "forelimb",
- "digit 1 or 5",
+ "Abnormality of the upper urinary tract",
"number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "number of anatomical enitites of type abdomen element phenotype",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "bone of appendage girdle complex phenotype",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
"central nervous system morphology phenotype",
- "organism subdivision",
- "kidney",
- "reproductive organ phenotype",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "abdominal segment of trunk",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "number of leukocyte phenotype",
- "localised reproductive organ",
- "absent bone of free limb or fin",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "musculature of body phenotype",
- "skin of body morphology phenotype",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "anatomical structure",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "skin of body phenotype",
- "Decreased head circumference",
- "absent bone of free limb or fin in the limb",
- "material anatomical entity",
- "Chromosomal breakage induced by crosslinking agents",
+ "Abnormality of the nervous system",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "Absent thumb",
+ "absent radius endochondral element",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "renal system phenotype",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "Abnormal renal morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
+ "compound organ phenotype",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "arm",
+ "Anemic pallor",
+ "absent limb long bone in the forelimb",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "leukocyte",
+ "simple eye phenotype",
+ "abdomen element",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
"multicellular organism phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "anatomical entity phenotype",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormal skeletal morphology",
- "skeletal element phenotype",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "anatomical collection",
- "organ",
+ "external genitalia phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "anatomical system",
+ "decreased number of platelet",
"decreased number of anatomical entity",
- "absent kidney",
- "forelimb morphology phenotype",
- "Abnormal granulocyte count",
- "long bone",
- "decreased number of leukocyte",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "absent lateral structure",
+ "absent anatomical structure in the forelimb",
+ "integument phenotype",
+ "biological regulation",
+ "absent trunk region element",
+ "abdominal segment of trunk",
+ "Abnormal cellular phenotype",
+ "Duplication of phalanx of hand",
"number of anatomical enitites of type cavitated compound organ phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "multicellular organism",
- "absent bone of appendage girdle complex in the limb",
- "absent organ",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal limb bone morphology",
- "quality",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "limb segment",
- "superficial fascia",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "enucleated reticulocyte morphology phenotype",
- "granulocyte",
- "nucleate cell",
- "bone marrow",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
+ "reproductive structure physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
+ "musculature",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "decreased size of the autopodial extension",
+ "absent bone of pectoral complex in the limb",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "limb endochondral element",
+ "absent limb bone",
+ "Abnormal cell morphology",
+ "phenotype",
+ "eye phenotype",
"Abnormal cellular immune system morphology",
- "autopodial extension phenotype",
- "myeloid leukocyte",
- "decreased number of material anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "neutrophil",
- "absent anatomical structure in the limb",
"skeletal element",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "Growth abnormality",
- "skeletal system phenotype",
- "regulation of biological process",
- "manual digit",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "material entity",
- "leukocyte",
- "Abnormal granulocyte morphology",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
+ "regulation of biosynthetic process phenotype",
"zeugopod",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "hematopoietic cell",
- "absent forelimb zeugopod bone",
- "digit 1 digitopodial skeleton",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
+ "radius endochondral element",
+ "taxon specific phenotype",
+ "granulocyte morphology phenotype",
+ "biological phase",
+ "autopod bone",
+ "mesoderm-derived structure",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "renal collecting system",
+ "Ectopic kidney",
+ "immune system morphology phenotype",
"cell phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "eukaryotic cell",
- "skull",
- "Abnormality of the hand",
- "Short thumb",
- "Abnormality of the genitourinary system",
- "macromolecule metabolic process phenotype",
+ "obsolete cell",
"programmed DNA elimination",
- "system",
- "Thrombocytopenia",
- "Short finger",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "phenotypic effect",
- "number of myeloid cell phenotype",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "Abnormality of blood and blood-forming tissues",
- "hematopoietic system",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "Abnormal cellular phenotype",
+ "anatomical entity morphology phenotype",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "localised kidney",
+ "absent anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "decreased number of anatomical structure",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "platelet phenotype",
+ "integument",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormality of the integument",
+ "primary metabolic process",
+ "forelimb endochondral element",
"Abnormality of the skin",
- "absent arm bone in the forelimb",
- "absent forelimb long bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Neutropenia",
+ "Microcephaly",
+ "multi-tissue structure phenotype",
+ "Abnormality of the musculoskeletal system",
+ "circulatory system",
+ "bone marrow cell",
+ "regulation of gene expression phenotype",
+ "brain morphology phenotype",
+ "system",
+ "absent forelimb bone in the forelimb",
+ "multicellular organism morphology phenotype",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
"number of anatomical enitites of type neutrophil phenotype",
- "All",
- "Abnormal eye morphology",
- "appendicular skeleton",
- "male organism phenotype",
- "Abnormality of the male genitalia",
- "Pallor",
- "reproductive structure phenotype",
- "decreased number of hematopoietic cell",
- "absent anatomical entity in the renal system",
- "autopod region morphology phenotype",
- "skeletal system morphology phenotype",
- "decreased number of cell",
- "growth",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
"entity",
- "subdivision of organism along appendicular axis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "subdivision of organism along main body axis",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "Abnormality of multiple cell lineages in the bone marrow",
"specifically dependent continuant",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased number of neutrophil",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "skeletal system",
- "absent multicellular anatomical structure in the limb",
- "musculature of body",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
+ "arm bone",
+ "absent kidney",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "forelimb long bone phenotype",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
"anatomical structure phenotype",
- "absent limb bone in the limb",
- "lateral structure physiology phenotype",
+ "forelimb zeugopod skeleton",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "bone of free limb or fin phenotype",
"Abnormal erythroid lineage cell morphology",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "absent abdominal segment element",
- "endochondral bone",
- "absent bone of appendage girdle complex",
- "oxygen accumulating cell",
+ "myeloid cell",
+ "immune system",
+ "Absent forearm bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
"Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "main body axis",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
+ "pectoral appendage skeleton",
+ "limb long bone morphology phenotype",
+ "Abnormality of skin pigmentation",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "absent anatomical structure in the limb",
+ "absent anatomical entity",
"integumental system",
- "aplasia or hypoplasia of skeleton",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "erythroid lineage cell morphology phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
+ "granulocyte",
"Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "Renal hypoplasia/aplasia",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "external genitalia",
- "aplasia or hypoplasia of manual digit",
- "eye movement",
- "Infertility",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent radius endochondral element in the forelimb",
- "Abnormality of the vasculature",
- "pectoral appendage",
- "bone element",
- "gonad",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
"limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
+ "absent bone element in the limb",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "Growth delay",
+ "kidney",
+ "decreased size of the multicellular organism",
+ "Abnormality of skull size",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "neutrophil phenotype",
+ "external male genitalia",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "skin of body phenotype",
+ "Abnormal granulocyte count",
+ "absent bone of appendage girdle complex in the limb",
+ "number of cell phenotype",
+ "number of leukocyte phenotype",
+ "platelet",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "multi-tissue structure",
"limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "absent compound organ",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "absent bone element",
"paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "non-connected functional system",
- "gonad phenotype",
- "motile cell",
"decreased size of the digit",
- "regional part of nervous system phenotype",
+ "decreased number of material anatomical entity",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical structure mass phenotype",
+ "decreased functionality of the anatomical structure",
+ "multicellular organism",
+ "Thrombocytopenia",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "long bone",
+ "material entity",
+ "anatomical entity phenotype",
+ "appendage",
+ "localised testis",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent organ",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
"Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
+ "absent lateral structure in the renal system",
+ "absent abdominal segment element",
+ "decreased size of the anatomical entity",
+ "absent material anatomical entity",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "absent abdominal segment element in the renal system",
+ "motile cell",
+ "skeletal system",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "absent abdomen element",
+ "neutrophil",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "continuant",
+ "absent bone of free limb or fin in the forelimb",
+ "manual digit 1 phalanx endochondral element",
+ "forelimb zeugopod bone morphology phenotype",
+ "tissue",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "anatomical structure",
+ "Abnormal bleeding",
+ "immune system phenotype",
+ "skeleton",
+ "paired limb/fin segment",
+ "erythrocyte morphology phenotype",
+ "skeletal element phenotype",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "oxygen accumulating cell",
+ "protein-containing material entity",
+ "segment of manus",
+ "eukaryotic cell",
+ "absent radius bone in the forelimb",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "hematopoietic system phenotype",
+ "ectoderm-derived structure phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forelimb endochondral element phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "Pancytopenia",
+ "acropodium region",
+ "Abnormal skin morphology",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "decreased length of material anatomical entity",
+ "absent organ in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "DNA metabolic process phenotype",
+ "hemolymphoid system",
+ "multi-limb segment region phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "renal system morphology phenotype",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "non-material anatomical boundary",
+ "erythroid lineage cell",
+ "absent limb bone in the forelimb",
"Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "digit 1 plus metapodial segment",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "nervous system physiology phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "manus phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "decreased length of anatomical structure",
+ "absent anatomical structure in the skeletal system",
"absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "behavior phenotype",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "decreased functionality of the multicellular anatomical structure",
+ "decreased length of manual digit 1 or 5",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type bone element phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Abnormal cerebral morphology",
+ "absent endochondral element in the limb",
+ "limb segment phenotype",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "multi-limb segment region",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb bone phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "decreased size of the sense organ",
+ "quality",
+ "anatomical collection phenotype",
+ "subdivision of head",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
+ "cellular response to stimulus phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "Reticulocytopenia",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "Abnormality of the genital system",
+ "vestibulo-auditory system",
"absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "arm bone phenotype",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "serotonin secreting cell",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "absent long bone in the forelimb",
+ "manual digit 1 morphology phenotype",
+ "absent organ in the limb",
+ "Abnormal leukocyte morphology",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "Abnormal platelet morphology",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "central nervous system",
"Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
- "appendage girdle complex",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "long bone phenotype",
- "testis",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Decreased fertility in males",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
"absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
+ "absent endochondral bone in the forelimb",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "Abnormality of the immune system",
+ "Abnormal nervous system physiology",
+ "limb bone morphology phenotype",
+ "delayed growth",
+ "arm bone phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "limb endochondral element phenotype",
+ "anatomical entity length phenotype",
+ "digit",
+ "sensory perception of mechanical stimulus",
+ "skin of body",
+ "Abnormal upper limb bone morphology",
+ "bone of pectoral complex phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "endochondral element",
+ "skeleton of pectoral complex",
+ "forelimb zeugopod morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "absent forelimb endochondral element in the limb",
+ "appendage phenotype",
+ "organism subdivision phenotype",
+ "Abnormality of limbs",
+ "bone of pectoral complex morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "absent long bone",
"Aplasia/hypoplasia involving the skeleton",
- "localised testis",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "aplasia or hypoplasia of radius bone",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
"absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "cavitated compound organ phenotype",
- "biogenic amine secreting cell",
- "cell cycle phenotype",
- "platelet",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
+ "localised organ",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "anatomical entity physiology phenotype",
"absent mesoderm-derived structure in the multicellular organism",
+ "cognition",
+ "endochondral bone phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "decreased length of manual digit",
+ "Aplasia/hypoplasia involving forearm bones",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "absent forelimb zeugopod bone",
+ "forelimb zeugopod bone phenotype",
+ "Abnormal finger phalanx morphology",
+ "pigmentation",
+ "shape of continuant phenotype",
"anucleate cell",
- "Eumetazoa",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "serotonin secreting cell",
"Abnormality of thrombocytes",
- "reproductive structure",
- "male reproductive organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "anatomical entity morphology in the manus phenotype",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "localised anatomical structure",
+ "testis",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "nucleate cell",
+ "reproductive structure phenotype",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
"male reproductive organ",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "Cryptorchidism",
- "thoracic cavity element",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "multicellular anatomical structure phenotype",
+ "absent arm bone",
"reproductive organ",
- "Abnormality of head or neck",
+ "gonad phenotype",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "localised material anatomical entity",
+ "Aplasia/Hypoplasia of fingers",
+ "Neutropenia",
+ "reproductive structure",
"external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
- "localised gonad",
- "primary circulatory organ",
- "head phenotype",
- "anatomical entity",
- "localised organ",
+ "Abnormality of mental function",
+ "increased biological_process in skin of body",
"localised anatomical entity",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
+ "decreased size of the multicellular anatomical structure",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "autopodial skeleton",
+ "ectoderm-derived structure physiology phenotype",
+ "shape kidney",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "manual digit",
+ "abdomen",
"manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
+ "decreased length of organism subdivision",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "subdivision of trunk",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
+ "anterior region of body",
+ "decreased length of manual digit 1",
"skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
+ "digitopodium region",
+ "camera-type eye phenotype",
+ "manus",
+ "Anemia",
+ "manus bone",
+ "radius bone",
+ "Abnormality of the hand",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "digit 1",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "decreased length of multicellular anatomical structure",
+ "digit 1 phenotype",
+ "Abnormal digit morphology",
+ "absent abdomen element in the renal system",
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "autopodial extension phenotype",
+ "manual digit plus metapodial segment",
+ "manual digit phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "pigmentation phenotype",
+ "Short thumb",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
+ "absent multicellular anatomical structure in the renal system",
+ "Short digit",
+ "upper urinary tract",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormality of the male genitalia",
"manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
+ "decreased length of digit",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "organ",
+ "decreased size of the anatomical structure",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
"Abnormal erythrocyte morphology",
- "aplastic manual digit 1",
+ "Abnormal finger morphology",
+ "Subcutaneous hemorrhage",
+ "absent organism subdivision in the multicellular organism",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "absent organism subdivision",
+ "Neurodevelopmental abnormality",
+ "absent autopodial extension",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "genitourinary system phenotype",
+ "biological_process",
+ "process",
+ "Duplication of hand bones",
+ "nervous system process",
+ "anatomical structure physiology phenotype",
+ "bone marrow",
+ "Intellectual disability",
+ "system process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype",
],
"has_phenotype_count": 34,
"highlight": None,
@@ -2089,20 +2043,27 @@ def autocomplete():
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0000470",
+ "HP:0007018",
+ "HP:0009777",
+ "HP:0002575",
+ "HP:0000238",
+ "HP:0040012",
+ "HP:0000465",
+ "HP:0000582",
+ "HP:0008551",
+ "HP:0004590",
+ "HP:0000316",
+ "HP:0002188",
"HP:0001776",
"HP:0000369",
"HP:0000347",
"HP:0003974",
- "HP:0000465",
- "HP:0007018",
"HP:0001510",
"HP:0001511",
- "HP:0009777",
"HP:0000568",
"HP:0009892",
- "HP:0004590",
"HP:0000151",
- "HP:0000470",
"HP:0001263",
"HP:0003221",
"HP:0002032",
@@ -2111,36 +2072,36 @@ def autocomplete():
"HP:0000431",
"HP:0000175",
"HP:0000054",
- "HP:0002575",
"HP:0005528",
- "HP:0000238",
"HP:0000437",
- "HP:0000316",
- "HP:0040012",
- "HP:0008551",
"HP:0001903",
"HP:0000957",
"HP:0000122",
"HP:0000089",
"HP:0002023",
- "HP:0002188",
- "HP:0000582",
],
"has_phenotype_label": [
+ "Short neck",
+ "Attention deficit hyperactivity disorder",
+ "Absent thumb",
+ "Tracheoesophageal fistula",
+ "Hydrocephalus",
+ "Chromosome breakage",
+ "Webbed neck",
+ "Upslanted palpebral fissure",
+ "Microtia",
+ "Hypoplastic sacrum",
+ "Hypertelorism",
+ "Delayed CNS myelination",
"Bilateral talipes equinovarus",
"Low-set ears",
"Micrognathia",
"Absent radius",
- "Webbed neck",
- "Attention deficit hyperactivity disorder",
"Growth delay",
"Intrauterine growth retardation",
- "Absent thumb",
"Microphthalmia",
"Anotia",
- "Hypoplastic sacrum",
"Aplasia of the uterus",
- "Short neck",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
"Esophageal atresia",
@@ -2149,2498 +2110,2371 @@ def autocomplete():
"Wide nasal bridge",
"Cleft palate",
"Micropenis",
- "Tracheoesophageal fistula",
"Bone marrow hypocellularity",
- "Hydrocephalus",
"Depressed nasal tip",
- "Hypertelorism",
- "Chromosome breakage",
- "Microtia",
"Anemia",
"Cafe-au-lait spot",
"Unilateral renal agenesis",
"Renal hypoplasia",
"Anal atresia",
- "Delayed CNS myelination",
- "Upslanted palpebral fissure",
],
"has_phenotype_closure": [
- "UBERON:0035639",
- "HP:0000582",
- "HP:0030669",
- "UBERON:0001711",
- "UBERON:0034921",
- "HP:0008050",
- "UPHENO:0002643",
- "UPHENO:0003085",
- "GO:0007399",
- "GO:0032291",
- "GO:0042552",
- "GO:0022008",
- "GO:0021782",
- "GO:0008366",
- "GO:0048468",
- "UPHENO:0050734",
- "GO:0048731",
- "UPHENO:0000554",
- "UPHENO:0000555",
- "GO:0048709",
- "GO:0042063",
- "GO:0014003",
- "UPHENO:0051450",
- "UPHENO:0050406",
- "UPHENO:0000558",
- "HP:0002188",
- "GO:0009987",
- "UPHENO:0050379",
- "GO:0007272",
- "GO:0048869",
- "UPHENO:0000552",
- "UPHENO:0050121",
- "UPHENO:0063596",
- "UBERON:0000161",
- "UPHENO:0086644",
- "HP:0004378",
+ "UPHENO:0063577",
+ "UPHENO:0063599",
"UPHENO:0074227",
- "UPHENO:0063581",
- "HP:0034915",
- "HP:0002023",
"UBERON:0001245",
+ "UPHENO:0002839",
+ "UPHENO:0074230",
+ "UPHENO:0081210",
"HP:0000089",
- "UBERON:0011143",
- "UPHENO:0076779",
- "HP:0000079",
- "UPHENO:0011770",
- "UPHENO:0026600",
"UPHENO:0011931",
- "HP:0008678",
- "UPHENO:0087427",
- "HP:0012447",
"UPHENO:0026308",
- "UPHENO:0026980",
- "HP:0000104",
- "HP:0032039",
- "UBERON:0000489",
- "UPHENO:0011559",
- "UPHENO:0025211",
- "UPHENO:0011566",
- "HP:0000077",
- "UPHENO:0002803",
- "UPHENO:0008827",
- "UPHENO:0000553",
+ "UBERON:0001008",
+ "UPHENO:0087427",
"UBERON:0000916",
"UBERON:8450002",
+ "UBERON:0011143",
+ "HP:0008678",
"UPHENO:0003094",
+ "HP:0000122",
+ "UPHENO:0002803",
+ "UPHENO:0002754",
+ "UPHENO:0025211",
+ "UPHENO:0025631",
+ "UPHENO:0026630",
+ "HP:0000104",
+ "HP:0000079",
+ "UPHENO:0026600",
+ "UPHENO:0075902",
+ "UPHENO:3000004",
+ "UPHENO:0008593",
+ "UBERON:0000489",
"UPHENO:0002909",
"UPHENO:0002832",
"HP:0012210",
- "UPHENO:0009129",
+ "UBERON:0005172",
"UPHENO:0026309",
- "UPHENO:0026504",
- "HP:0001034",
- "UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000492",
- "UPHENO:0002812",
- "HP:0000953",
+ "UPHENO:0008825",
+ "HP:0010935",
"UPHENO:0076739",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "HP:0001000",
- "HP:0005927",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0008736",
- "CL:0000763",
- "UBERON:0001442",
+ "UPHENO:0054970",
+ "UBERON:0002417",
+ "HP:0001511",
+ "UBERON:0005473",
+ "UBERON:0000065",
"UBERON:0012140",
- "UBERON:0002544",
- "HP:0012733",
- "UBERON:0006048",
- "HP:0011400",
- "UPHENO:0009382",
- "UPHENO:0052778",
- "HP:0000238",
- "UPHENO:0005647",
- "UPHENO:0004476",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UBERON:0001691",
- "UBERON:0012139",
- "UPHENO:0002585",
- "HP:0001510",
- "UPHENO:0049775",
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- "UBERON:0010363",
- "HP:0000568",
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- "UPHENO:0004956",
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- "UPHENO:3000007",
- "UPHENO:0002934",
- "NBO:0000604",
- "HP:0000707",
- "UPHENO:0025666",
- "HP:0025766",
- "GO:0008150",
- "UBERON:5002389",
- "HP:0000708",
- "HP:0000752",
- "HP:0012639",
- "HP:0025461",
- "HP:0025732",
- "UPHENO:0002648",
- "HP:0007018",
- "UBERON:0002028",
- "GO:0050877",
- "UBERON:0011138",
- "UPHENO:0081320",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "HP:0000465",
- "UBERON:0004921",
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- "UPHENO:0003074",
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- "UPHENO:0025497",
- "HP:0002973",
- "UPHENO:0025961",
- "UPHENO:0002983",
- "UPHENO:0001570",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0010740",
- "UPHENO:0026073",
- "GO:0031323",
- "UPHENO:0025547",
- "HP:0002818",
- "UPHENO:0026317",
- "UPHENO:0080281",
- "UPHENO:0076800",
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- "UPHENO:0026640",
- "UPHENO:0002815",
- "UPHENO:0002880",
- "UPHENO:0002969",
- "HP:0002715",
- "BFO:0000003",
- "UPHENO:0008430",
- "UBERON:0005881",
- "UPHENO:0080171",
- "UPHENO:0076718",
- "UPHENO:0076786",
- "UPHENO:0025136",
- "UPHENO:0003514",
- "HP:0000152",
+ "UPHENO:0080196",
+ "UPHENO:0080158",
+ "UBERON:0003947",
+ "HP:0009122",
+ "UBERON:0003463",
+ "GO:0060255",
+ "UBERON:0003828",
+ "HP:0005107",
+ "UPHENO:0041226",
+ "UPHENO:0014320",
+ "UPHENO:0076730",
+ "UBERON:0002105",
+ "UPHENO:0002903",
+ "UPHENO:0081466",
+ "UPHENO:0081783",
+ "CL:0002092",
+ "UPHENO:0005986",
+ "HP:0012760",
+ "UPHENO:0003002",
+ "HP:0004590",
+ "HP:0030669",
+ "UPHENO:0003069",
+ "UBERON:0001819",
+ "HP:0000422",
+ "UBERON:0004088",
+ "UPHENO:0003058",
+ "HP:0000234",
+ "UBERON:0000161",
+ "UPHENO:0086824",
+ "UBERON:0000020",
+ "UPHENO:0002812",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UBERON:0004175",
+ "UPHENO:0002910",
+ "UBERON:0000970",
+ "UPHENO:0002755",
+ "UBERON:0034923",
+ "UBERON:0001032",
+ "HP:0012443",
+ "UPHENO:0026181",
+ "UPHENO:0002964",
+ "UBERON:0002616",
+ "UPHENO:0008487",
+ "GO:0005623",
+ "GO:0048709",
+ "UPHENO:0050126",
+ "HP:0001939",
+ "GO:0010468",
+ "UPHENO:0000541",
+ "UPHENO:0074329",
+ "UPHENO:0026529",
+ "UPHENO:0049904",
+ "HP:0025031",
+ "GO:0019222",
+ "HP:0008772",
+ "UPHENO:0025855",
+ "GO:0008152",
+ "GO:0048523",
"UPHENO:0026128",
+ "UPHENO:0050025",
"UPHENO:0050435",
+ "UPHENO:0003936",
+ "UPHENO:0050063",
+ "HP:0003220",
"UPHENO:0026811",
- "HP:0025780",
- "UBERON:0000978",
- "HP:0002817",
- "HP:0008551",
- "UPHENO:0002905",
- "UPHENO:0008475",
- "UPHENO:0009399",
- "UPHENO:0053456",
- "UPHENO:0069236",
- "GO:0030154",
- "UBERON:0008962",
- "UPHENO:0011817",
- "UBERON:0015001",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "HP:0001574",
- "UPHENO:0002267",
- "UPHENO:0081784",
- "UBERON:0003606",
- "UPHENO:0081451",
- "UPHENO:0003227",
- "UPHENO:0056333",
- "UPHENO:3000004",
- "UPHENO:0026312",
- "UBERON:0000167",
- "UPHENO:0002632",
- "HP:0011297",
- "UPHENO:0052178",
- "HP:0000812",
- "UBERON:0010712",
- "UBERON:0011249",
- "UBERON:0001440",
- "UPHENO:0054970",
- "UPHENO:0025845",
- "UBERON:0034925",
- "UPHENO:0002659",
- "GO:0050789",
- "HP:0009815",
- "UPHENO:0002594",
- "UBERON:0001008",
- "HP:0010460",
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- "UPHENO:0025587",
- "UPHENO:0004523",
- "UPHENO:0080158",
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- "UPHENO:0002870",
- "UPHENO:0087349",
- "UPHENO:0025661",
- "HP:0001511",
- "GO:0005623",
+ "UPHENO:0078606",
+ "GO:0031052",
+ "GO:0009890",
"GO:0010629",
- "UPHENO:0025507",
- "UPHENO:0087501",
- "UPHENO:0008703",
- "UPHENO:0002546",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0001584",
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- "HP:0040070",
- "UPHENO:0009337",
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- "UPHENO:0033635",
- "HP:0001167",
- "UPHENO:0009341",
- "UPHENO:0011568",
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- "UPHENO:0003005",
- "UBERON:0002471",
- "UPHENO:0004459",
- "UBERON:0007914",
- "UPHENO:0026082",
+ "HP:0025354",
"UBERON:0000474",
- "HP:0000277",
- "UBERON:0010708",
- "UBERON:0002091",
- "UBERON:0000026",
- "HP:0005561",
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- "UPHENO:0041080",
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- "HP:0005105",
- "UPHENO:0002868",
- "UPHENO:0001072",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0002948",
+ "UPHENO:0050778",
+ "UPHENO:0014865",
+ "UPHENO:0041458",
+ "UBERON:0001270",
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+ "UPHENO:0026813",
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"UBERON:0000475",
- "UPHENO:0081099",
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+ "UPHENO:0009011",
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+ "UBERON:0034929",
+ "UPHENO:0005647",
+ "UBERON:0005358",
"UPHENO:0087433",
- "UPHENO:0002763",
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- "HP:0000369",
- "HP:0006501",
- "UPHENO:0050034",
- "UPHENO:0011498",
- "UPHENO:0011538",
+ "GO:0021782",
+ "HP:0000924",
+ "GO:0007275",
+ "UPHENO:0056250",
+ "UPHENO:0003029",
"BFO:0000020",
- "UPHENO:0004595",
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"UPHENO:0003086",
- "HP:0011024",
- "UPHENO:0063574",
- "UPHENO:0004486",
- "UBERON:0010323",
- "UPHENO:0063594",
- "UBERON:0000060",
- "UPHENO:0075655",
- "UPHENO:0063603",
- "HP:0045060",
- "UPHENO:0063576",
- "GO:0032501",
- "UPHENO:0074330",
- "HP:0011458",
- "HP:0025032",
- "UPHENO:0002443",
- "UBERON:0012475",
- "HP:0040068",
+ "UPHENO:0025243",
+ "UPHENO:0063586",
+ "HP:0000436",
+ "UPHENO:0050106",
+ "UPHENO:0009181",
+ "UPHENO:0080165",
+ "UPHENO:0087547",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UPHENO:0011847",
+ "HP:0000130",
+ "UBERON:0005156",
+ "HP:0010938",
+ "UBERON:0003100",
+ "UPHENO:0005170",
+ "HP:0001263",
+ "HP:0003221",
+ "UPHENO:0063559",
+ "HP:0020047",
+ "HP:0011121",
+ "UBERON:0010000",
+ "UBERON:0010230",
+ "UPHENO:0074237",
+ "UPHENO:0063562",
+ "UPHENO:0050007",
+ "UPHENO:0074245",
+ "UPHENO:0072264",
+ "UPHENO:0002634",
+ "UPHENO:0081095",
+ "UPHENO:0063615",
+ "UPHENO:0001003",
+ "UPHENO:0063594",
+ "UPHENO:0002948",
+ "HP:0002589",
+ "UPHENO:0074310",
+ "UPHENO:0025497",
+ "UPHENO:0074232",
+ "UPHENO:0074311",
+ "UPHENO:0063574",
"HP:0031703",
- "HP:0000050",
- "UPHENO:0025585",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0002575",
- "UPHENO:0049620",
- "UBERON:0001895",
- "HP:5200044",
- "UPHENO:0004802",
- "UBERON:0013702",
- "UPHENO:0006173",
- "NCBITaxon:1",
- "UPHENO:0076791",
- "HP:0100886",
- "UBERON:0001710",
+ "HP:0011968",
+ "UPHENO:0084763",
+ "UPHENO:0081099",
"UPHENO:0081601",
- "UPHENO:0003459",
- "UPHENO:0069327",
- "UPHENO:0002715",
- "UPHENO:0004521",
- "UPHENO:0081581",
- "UBERON:0001423",
- "UPHENO:0002964",
+ "NCBITaxon:1",
"UBERON:0000481",
- "UBERON:0004733",
- "UBERON:0002616",
- "UBERON:0013515",
- "UPHENO:0072264",
- "UPHENO:0018390",
- "UBERON:0000955",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0056242",
+ "UPHENO:0011749",
+ "HP:0000957",
+ "NCBITaxon:6072",
+ "UPHENO:0003004",
+ "UBERON:0004732",
+ "UBERON:0004086",
+ "UPHENO:0076720",
+ "NCBITaxon:131567",
+ "UPHENO:0005573",
+ "NCBITaxon:33154",
+ "HP:0002977",
+ "UBERON:0005281",
"UPHENO:0080089",
- "UPHENO:0075948",
- "UPHENO:0076702",
- "HP:0012443",
- "HP:0007360",
- "UBERON:0002104",
- "UPHENO:0056230",
- "UPHENO:0003069",
- "UPHENO:0008689",
"HP:0011283",
- "NCBITaxon:2759",
- "UPHENO:0003936",
- "UBERON:0000073",
- "UPHENO:0002433",
- "UPHENO:0002722",
- "NCBITaxon:6072",
- "UPHENO:0002554",
- "UPHENO:0087585",
- "UPHENO:0002685",
- "UPHENO:0001134",
- "GO:0031324",
- "UBERON:0004119",
- "UPHENO:0087950",
- "UPHENO:0086635",
- "UBERON:0006333",
- "HP:0009115",
- "UPHENO:0003067",
+ "HP:0008056",
+ "UBERON:0000063",
"UBERON:0002268",
- "UBERON:0011216",
"UPHENO:0006146",
- "UPHENO:0006161",
+ "UPHENO:0002907",
+ "UPHENO:0003067",
+ "HP:0007360",
+ "HP:0003241",
+ "UPHENO:0025739",
+ "HP:0000366",
+ "UPHENO:0011531",
+ "UPHENO:0001134",
+ "UBERON:0008340",
+ "UBERON:0004089",
"UPHENO:0001303",
- "UPHENO:0006140",
- "UPHENO:0033592",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UPHENO:0004520",
+ "GO:0032501",
+ "UPHENO:0006147",
+ "UBERON:0011676",
+ "HP:0000175",
+ "UPHENO:0074360",
+ "UBERON:0000464",
+ "UPHENO:0011533",
+ "UPHENO:0076786",
+ "UPHENO:0033565",
+ "UPHENO:0052855",
"UPHENO:0033560",
- "UBERON:0000466",
- "UPHENO:0081314",
- "UPHENO:0002962",
- "UPHENO:0033612",
+ "UPHENO:0033599",
+ "UPHENO:0025883",
+ "UPHENO:0033635",
+ "UPHENO:0002654",
"UBERON:0002553",
- "UBERON:0007827",
- "UPHENO:0033587",
- "HP:0000202",
- "UBERON:0001004",
- "UPHENO:0002526",
- "OBI:0100026",
+ "UBERON:0001709",
"UPHENO:0033589",
- "UPHENO:0086824",
- "UPHENO:0002891",
- "UBERON:0004732",
- "HP:0000175",
- "UPHENO:0009021",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0026097",
- "UPHENO:0002595",
- "HP:0003241",
+ "UPHENO:0002838",
+ "CL:0000763",
+ "UPHENO:0052778",
+ "HP:0000202",
+ "UPHENO:0075655",
+ "HP:0000050",
+ "HP:0040072",
+ "UBERON:0004053",
+ "UBERON:0008811",
+ "UBERON:0000989",
+ "UPHENO:0014240",
+ "UPHENO:0081566",
+ "UPHENO:0003082",
"HP:0000054",
- "UBERON:0007779",
- "UBERON:0003135",
+ "UBERON:0005944",
+ "UBERON:0001716",
"UBERON:0000079",
- "UPHENO:0002682",
- "UPHENO:0002530",
- "UPHENO:0002765",
- "UPHENO:0005025",
- "UBERON:0001708",
+ "HP:0001871",
+ "UPHENO:0011566",
+ "UBERON:0006077",
+ "HP:0010461",
+ "UPHENO:0076727",
"UPHENO:0002697",
- "UPHENO:0003058",
- "UBERON:0004053",
+ "HP:0001155",
"UBERON:0003101",
- "UPHENO:0008816",
"HP:0000032",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UPHENO:0002754",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "HP:0002778",
- "UBERON:0002193",
- "UBERON:0002390",
- "UPHENO:0002651",
- "UBERON:0002371",
- "UPHENO:0003065",
+ "HP:0000119",
"HP:0005528",
- "HP:0006265",
- "HP:0000811",
- "HP:0001871",
- "HP:0012145",
+ "UPHENO:0004459",
+ "HP:0001903",
+ "UPHENO:0002693",
+ "HP:0005561",
"UBERON:0000479",
- "UBERON:0004086",
- "UPHENO:0014351",
- "UPHENO:0014292",
- "UPHENO:0088047",
- "UPHENO:0015184",
- "UBERON:0001359",
- "UPHENO:0014761",
- "NCBITaxon:131567",
- "UPHENO:0014291",
- "UPHENO:0014865",
- "UPHENO:0056158",
- "UBERON:0002103",
- "UBERON:0003947",
- "HP:0002921",
- "UPHENO:0088185",
- "UBERON:0000463",
- "UPHENO:0011845",
- "UPHENO:0063615",
- "UPHENO:0056251",
- "UBERON:0001137",
- "UPHENO:0056150",
- "UBERON:0006983",
- "HP:0000436",
+ "HP:0025461",
"UPHENO:0087430",
- "UPHENO:0041098",
- "UPHENO:0002837",
- "UPHENO:0025508",
- "UBERON:0034929",
- "UBERON:0001709",
- "UPHENO:0002668",
- "UBERON:0001474",
- "GO:0009892",
- "UPHENO:0002727",
- "UBERON:0000015",
- "UPHENO:0072195",
- "HP:0001321",
- "UPHENO:0018424",
- "UPHENO:0025544",
- "UPHENO:0002864",
- "UPHENO:0072200",
- "UBERON:0001005",
- "UPHENO:0005016",
- "UPHENO:0072194",
- "HP:0001776",
- "UPHENO:0072185",
- "UPHENO:0002887",
- "UBERON:0010222",
- "UPHENO:0009192",
- "CL:0001035",
- "UPHENO:0081119",
- "UPHENO:0088162",
- "UPHENO:0026183",
- "CL:0000081",
- "CL:0000232",
- "HP:0000924",
- "HP:0012130",
+ "UPHENO:0081511",
+ "HP:0000437",
+ "UPHENO:0041203",
"CL:0000764",
- "UPHENO:0088170",
- "HP:0001903",
- "HP:0001877",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
+ "UBERON:0002405",
+ "NCBITaxon:2759",
+ "HP:0012130",
+ "CL:0000232",
+ "UPHENO:0054957",
+ "UPHENO:0074575",
+ "UBERON:0002416",
+ "UBERON:0002199",
+ "UBERON:0002097",
+ "HP:0001574",
+ "GO:0043473",
],
"has_phenotype_closure_label": [
- "multi organ part structure phenotype",
- "Slanting of the palpebral fissure",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eyelid",
- "palpebral fissure",
- "Abnormality of the palpebral fissures",
- "multi organ part structure",
- "Upslanted palpebral fissure",
- "delayed axon ensheathment in central nervous system",
- "Abnormal CNS myelination",
- "myelination phenotype",
- "cellular developmental process",
- "delayed cellular process",
- "central nervous system development",
- "axon ensheathment in central nervous system",
- "glial cell differentiation",
- "glial cell development",
- "ensheathment of neurons phenotype",
- "central nervous system myelination phenotype",
- "cellular process",
- "delayed central nervous system myelination",
- "delayed ensheathment of neurons",
- "axon ensheathment in central nervous system phenotype",
- "oligodendrocyte differentiation",
- "gliogenesis",
- "axon ensheathment",
- "cell development",
- "delayed myelination",
- "Abnormal anus morphology",
- "orifice",
- "anus phenotype",
- "anus atresia",
- "Abnormality of the anus",
- "anatomical conduit atresia",
"anus",
- "orifice phenotype",
+ "anatomical conduit atresia",
+ "anus morphology phenotype",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "orifice atresia",
+ "closing of the ectoderm-derived structure",
+ "Renal hypoplasia",
"kidney hypoplasia",
- "absent abdomen element",
- "number of anatomical enitites of type compound organ phenotype",
- "absent trunk region element in the renal system",
- "renal system morphology phenotype",
- "absent kidney in the renal system",
- "excretory system",
- "absent abdomen element in the renal system",
"upper urinary tract",
- "kidney phenotype",
+ "absent multicellular anatomical structure in the renal system",
+ "upper urinary tract phenotype",
+ "absent compound organ",
+ "kidney morphology phenotype",
"Renal hypoplasia/aplasia",
- "absent cavitated compound organ in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "renal/urinary system phenotype",
- "absent kidney",
- "Unilateral renal agenesis",
- "absent anatomical structure in the renal system",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
"abdomen element phenotype",
- "abdomen element",
- "number of anatomical enitites of type cavitated compound organ phenotype",
+ "renal system",
+ "absent compound organ in the renal system",
+ "excretory system",
+ "number of anatomical enitites of type kidney phenotype",
"cavitated compound organ",
+ "absent organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "absent lateral structure in the renal system",
+ "Abnormal anus morphology",
+ "compound organ phenotype",
"abdomen",
- "Irregular hyperpigmentation",
- "integumental system",
- "Abnormality of the integument",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
+ "absent cavitated compound organ",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent trunk region element in the multicellular organism",
"renal system phenotype",
- "integument phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of the hand",
- "skull",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "absent organism subdivision",
- "head bone",
- "skeleton of manus",
- "Abnormal hand morphology",
- "manual digit 1",
- "bone of appendage girdle complex",
- "upper jaw region",
- "manual digit morphology in the manus phenotype",
- "manual digit 1 plus metapodial segment",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "head",
- "regional part of brain",
+ "absent cavitated compound organ in the renal system",
+ "renal/urinary system phenotype",
+ "Abnormality of the upper urinary tract",
+ "kidney phenotype",
+ "absent abdomen element",
+ "number of anatomical enitites of type compound organ phenotype",
+ "absent anatomical structure in the renal system",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "Irregular hyperpigmentation",
+ "kidney",
+ "bony pelvis",
+ "Abnormal sacrum morphology",
+ "aplastic manual digit 1",
+ "trunk region element phenotype",
+ "aplasia or hypoplasia of vertebral column",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
"manus morphology phenotype",
- "absent uterus",
+ "sacral region",
"reproductive system",
- "embryo development rate phenotype",
- "paired limb/fin segment",
- "cerebellum",
- "decreased qualitatively embryo development",
- "absent material anatomical entity in the head",
- "absent material anatomical entity in the reproductive system",
- "skin of body",
- "multicellular organism development phenotype",
- "male reproductive system phenotype",
- "developmental process",
- "anatomical structure development phenotype",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "developmental process rate phenotype",
- "ensheathment of neurons",
- "subdivision of head",
- "growth",
- "entity",
- "Growth delay",
- "respiratory system",
- "Hypoplastic facial bones",
- "absent multicellular anatomical structure in the renal system",
- "attention behavior",
- "multicellular organism development",
- "Abnormal volitional state",
+ "sacral region of vertebral column phenotype",
+ "trachea",
+ "Aplasia/Hypoplasia of the sacrum",
+ "endoderm-derived structure",
+ "trunk region element",
+ "Abnormal pinna morphology",
+ "dorsal part of neck",
+ "lateral structure phenotype",
+ "shape of external ear phenotype",
"Abnormality of the nervous system",
- "Disinhibition",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "material anatomical entity physiology phenotype",
- "decreased length of neck",
- "Micrognathia",
- "aplastic manual digit 1",
- "Atypical behavior",
- "nervous system physiology phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "Attention deficit hyperactivity disorder",
- "Abnormal erythroid lineage cell morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "multicellular organismal process",
- "decreased behavior",
- "bone of jaw phenotype",
- "biological_process",
- "limb phenotype",
- "absent reproductive structure in the female reproductive system",
- "behavior process phenotype",
- "oligodendrocyte development",
- "social behavior",
- "nervous system process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "neck",
+ "increased qualitatively biological_process",
+ "shape of continuant phenotype",
+ "ear morphology phenotype",
+ "Abnormality of the face",
+ "eyelid",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
"Abnormality of the orbital region",
- "decreased embryo development",
- "Abnormality of the neck",
- "arm phenotype",
- "bone of pectoral complex phenotype",
- "digit 1",
- "curvature anatomical entity",
- "mesoderm-derived structure",
- "absent endochondral bone in the forelimb",
- "digestive system element atresia",
- "flat nose tip",
- "appendicular skeleton phenotype",
- "tracheobronchial tree morphology phenotype",
- "absent limb bone",
- "aplasia or hypoplasia of mandible",
- "increased size of the non-material anatomical boundary",
- "absent endochondral element",
- "agenesis of anatomical entity",
- "bone of appendage girdle complex phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of digestive tract atresia",
- "limb bone morphology phenotype",
- "digestive system element",
- "external genitalia",
- "absent radius endochondral element",
- "forelimb skeleton phenotype",
- "absent forelimb endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "central nervous system myelination",
- "long bone phenotype",
- "size of eyeball of camera-type eye phenotype",
- "Abnormal nervous system physiology",
- "absent bone element",
- "increased width of anatomical structure",
- "nasal bridge phenotype",
- "Abnormal social behavior",
- "zeugopodial skeleton",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "absent forelimb long bone in the forelimb",
- "absent abdominal segment element",
- "skeleton of lower jaw phenotype",
- "Abnormal affect",
- "absent bone of free limb or fin",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Aplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "Aplasia/Hypoplasia involving bones of the skull",
- "absent limb endochondral element in the limb",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "flat anatomical entity",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "mouth morphology phenotype",
- "absent limb bone in the forelimb",
- "renal system",
- "absent mesoderm-derived structure in the multicellular organism",
+ "roof of mouth",
+ "Slanting of the palpebral fissure",
+ "Aplasia/Hypoplasia of the external ear",
+ "absent uterus",
+ "Abnormal eyelid morphology",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "ocular adnexa phenotype",
+ "metencephalon",
+ "face phenotype",
+ "Reduced attention regulation",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "absent organism subdivision in the head",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
+ "orbital region",
+ "non-connected functional system",
+ "palpebral fissure phenotype",
+ "orifice phenotype",
+ "eyelid morphology phenotype",
+ "male reproductive organ",
+ "multi organ part structure phenotype",
+ "Abnormality of the head",
+ "increased length of the anatomical line between pupils",
+ "face morphology phenotype",
+ "negative regulation of cellular process",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "absent kidney",
+ "decreased social inhibition",
+ "immaterial entity",
+ "negative regulation of cellular biosynthetic process",
+ "organ subunit",
+ "homeostatic process",
+ "attention behavior",
+ "metabolic process",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "negative regulation of biological process phenotype",
+ "closing of the subdivision of digestive tract",
+ "Abnormal cellular phenotype",
+ "regulation of cellular process phenotype",
+ "regulation of metabolic process phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "nose tip",
+ "zeugopod",
+ "absent material anatomical entity in the renal system",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "negative regulation of cellular process phenotype",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "pigmentation phenotype",
+ "autopodial extension",
+ "manual digit 1",
+ "decreased size of the ectoderm-derived structure",
+ "ear",
+ "regulation of cellular biosynthetic process phenotype",
+ "subdivision of digestive tract",
+ "digestive system",
+ "obsolete cell",
"anatomical entity morphology phenotype",
- "absent organ in the limb",
- "biological_process phenotype",
- "orifice atresia",
- "Craniofacial cleft",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "subdivision of organism along main body axis",
+ "dermal skeletal element",
+ "number of anatomical enitites of type organ part phenotype",
+ "external ear",
+ "structure with developmental contribution from neural crest phenotype",
+ "increased number of organ part",
+ "structure with developmental contribution from neural crest",
+ "Abnormal cerebral ventricle morphology",
+ "bone of craniocervical region",
+ "intromittent organ phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "hindbrain morphology phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "system",
+ "regulation of gene expression phenotype",
+ "subdivision of head phenotype",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Hypertelorism",
+ "Morphological central nervous system abnormality",
+ "Absent radius",
+ "Abnormal skin morphology",
+ "subdivision of vertebral column phenotype",
+ "Abnormality of the outer ear",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "Abnormal tracheal morphology",
+ "bodily fluid",
+ "multi-tissue structure",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "Abnormality of the digestive system",
+ "cerebrospinal fluid",
+ "organism substance",
+ "organ part phenotype",
+ "increased number of multicellular anatomical structure",
+ "fused sacrum",
+ "increased number of anatomical structure",
+ "ventricle of nervous system phenotype",
+ "transudate",
+ "cerebellum phenotype",
+ "brain ventricle morphology phenotype",
+ "absent anatomical entity in the reproductive system",
+ "subdivision of tube",
+ "respiratory airway",
+ "incomplete closing of the roof of mouth",
+ "brain ventricle/choroid plexus phenotype",
+ "digestive system phenotype",
+ "respiratory system",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digestive tract",
+ "camera-type eye morphology phenotype",
+ "pelvic region element phenotype",
+ "viscus",
+ "vertebral element",
+ "reproductive organ phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "Abnormality of the respiratory system",
+ "Abnormal respiratory system physiology",
+ "thoracic segment of trunk",
+ "compound organ",
+ "eye",
+ "axon ensheathment in central nervous system",
+ "Aplasia/Hypoplasia of the ear",
"Tracheoesophageal fistula",
- "female reproductive system morphology phenotype",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
+ "absent anatomical structure in the reproductive system",
+ "programmed DNA elimination",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal volitional state",
+ "ventricular system of brain",
"number of anatomical enitites of type organ component layer phenotype",
- "Hypermelanotic macule",
- "hindbrain",
+ "Abnormal respiratory system morphology",
+ "cervical region of vertebral column",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "external ear phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "visual system",
+ "lower respiratory tract",
+ "flat anatomical entity",
+ "alimentary part of gastrointestinal system phenotype",
+ "regulation of metabolic process",
+ "pectoral appendage skeleton",
+ "pes",
+ "absent trunk region element",
+ "intramembranous bone phenotype",
"skull phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "autopodial extension",
- "reproductive system phenotype",
- "absent forelimb bone",
- "endochondral element",
- "absent multicellular anatomical structure in the head",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "Microtia",
- "absent arm bone",
- "limb long bone phenotype",
- "forelimb zeugopod",
- "number of anatomical enitites of type endochondral bone phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "absent radius endochondral element in the forelimb",
- "absent mesoderm-derived structure in the forelimb",
- "facial bone",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
+ "female reproductive system phenotype",
+ "orifice",
+ "upper digestive tract",
+ "anatomical system",
+ "increased number of brain ventricle/choroid plexus",
+ "membrane bone",
"bone of pectoral complex morphology phenotype",
- "absent compound organ",
- "intramembranous bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "aplasia or hypoplasia of manual digit",
- "absent organ in the forelimb",
- "Abnormal social development",
- "absent bone element in the forelimb",
- "intramembranous bone",
- "absent bone of pectoral complex",
- "Abnormality of the female genitalia",
- "bone of pectoral complex",
- "bone of free limb or fin",
- "decreased qualitatively behavior",
- "forelimb zeugopod skeleton",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "Abnormal penis morphology",
- "forelimb",
- "absent limb endochondral element",
- "digit 1 or 5",
- "Intrauterine growth retardation",
- "aplasia or hypoplasia of radius bone",
- "myelination",
- "Abnormal metencephalon morphology",
- "number of anatomical enitites of type organ phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "trunk region element",
- "forelimb long bone phenotype",
- "Cognitive impairment",
- "absent radius bone",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
+ "tracheobronchial tree",
+ "abdominal segment of trunk",
+ "Global developmental delay",
+ "organ atresia",
+ "alimentary part of gastrointestinal system",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth",
+ "absent organ part",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "absent digit",
+ "Abnormal esophagus morphology",
+ "absent forelimb endochondral element",
+ "bone of appendage girdle complex phenotype",
+ "absent material anatomical entity in the limb",
+ "behavior process",
+ "limb bone phenotype",
+ "autopod region morphology phenotype",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "absent limb endochondral element",
+ "Micropenis",
+ "Abnormality of limbs",
+ "Abnormal affect",
+ "organ part",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "head bone phenotype",
+ "cavitated compound organ phenotype",
+ "Abnormal ocular adnexa morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "jaw region",
+ "renal system morphology phenotype",
+ "Abnormality of the female genitalia",
+ "mesoderm-derived structure phenotype",
+ "pelvic region of trunk",
+ "palpebral fissure",
+ "pectoral complex",
+ "head",
+ "disconnected anatomical group",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "internal genitalia phenotype",
+ "esophagus",
+ "sacral region of vertebral column",
+ "central nervous system development",
+ "hemolymphoid system",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "Abnormality of the kidney",
+ "orbital region phenotype",
+ "biological regulation",
+ "Abnormal penis morphology",
+ "anatomical collection phenotype",
+ "quality",
+ "aplasia or hypoplasia of external ear",
+ "decreased size of the sense organ",
+ "Abnormally increased volition",
+ "Abnormal renal morphology",
+ "radius endochondral element",
+ "dorsum",
+ "closing of the anatomical structure",
+ "cervical region",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "cervical vertebra endochondral element phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "decreased size of the organism subdivision",
+ "digit plus metapodial segment",
+ "external soft tissue zone",
+ "skeletal element phenotype",
+ "limb bone morphology phenotype",
+ "nervous system process",
+ "anatomical structure physiology phenotype",
+ "facial bone phenotype",
+ "bone element",
+ "aplasia or hypoplasia of cerebellum",
+ "anatomical structure",
+ "musculature of body",
+ "ear phenotype",
+ "decreased qualitatively biological_process",
+ "anatomical entity",
+ "main body axis",
+ "organism subdivision",
+ "absent endochondral element in the limb",
+ "decreased size of the anatomical structure",
+ "organ",
+ "vertebral element phenotype",
+ "vertebra",
"Abnormal forearm morphology",
- "vertebral column",
- "increased number of anatomical entity",
+ "proximo-distal subdivision of respiratory tract",
+ "brain ventricle/choroid plexus",
+ "Short attention span",
+ "system process",
+ "external male genitalia hypoplasia",
+ "Abnormality of globe size",
+ "Hypoplastic sacrum",
+ "Aplasia/Hypoplasia of facial bones",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "craniocervical region phenotype",
+ "abdominal segment bone",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "nervous system morphology phenotype",
+ "developmental process",
+ "cell phenotype",
+ "anatomical entity hypoplasia in face",
+ "opening of the anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "skeletal system morphology phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus",
+ "increased size of the immaterial anatomical entity",
+ "neck",
"absent anatomical structure",
- "arm bone",
- "ear",
- "dermatocranium",
- "subdivision of oviduct phenotype",
- "Abnormal palate morphology",
- "Abnormal erythrocyte morphology",
- "absent multicellular anatomical structure",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "number of anatomical enitites of type bone element phenotype",
+ "absent external ear",
+ "increased size of the ectoderm-derived structure",
+ "pelvic region element",
+ "material entity",
+ "negative regulation of biosynthetic process",
+ "long bone",
+ "ocular adnexa",
+ "female reproductive organ",
+ "Abnormality of head or neck",
+ "decreased biological_process",
+ "anatomical entity length phenotype",
+ "decreased length of material anatomical entity",
+ "delayed axon ensheathment in central nervous system",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "increased number of organ component layer",
+ "anatomical system physiology phenotype",
+ "nervous system",
+ "head phenotype",
"forelimb zeugopod bone",
- "brain ventricle",
- "pectoral appendage",
- "bone element",
+ "aplastic anatomical entity",
+ "anterior region of body",
+ "appendicular skeleton",
+ "Abnormal cerebellum morphology",
+ "Abnormality of multiple cell lineages in the bone marrow",
"absent anatomical entity in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "delayed growth",
- "embryo development phenotype",
- "decreased rate of behavior process",
- "vestibulo-auditory system",
- "absent material anatomical entity in the multicellular organism",
- "behavior process",
- "external ear hypoplasia",
- "segment of manus",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeletal system",
- "absent anatomical entity",
- "acropodium region",
- "sacral region",
- "arm",
- "skeleton of limb phenotype",
- "anatomical conduit",
- "closing of the organ part",
- "number of anatomical enitites of type trunk region element phenotype",
- "male reproductive organ phenotype",
- "decreased biological_process",
- "Absent radius",
- "female organism phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "absent anatomical structure in the ear",
- "manual digit 1 or 5",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "developmental process phenotype",
- "Abnormal myelination",
+ "abdominal segment element phenotype",
"Finger aplasia",
- "Abnormal gastrointestinal tract morphology",
- "sense organ phenotype",
+ "aplasia or hypoplasia of ear",
+ "independent continuant",
+ "anatomical line between pupils",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "increased size of the non-material anatomical boundary",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "musculature phenotype",
+ "aplasia or hypoplasia of skull",
+ "sense organ",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "regulation of biosynthetic process phenotype",
+ "anatomical system phenotype",
+ "central nervous system morphology phenotype",
+ "cervical vertebra endochondral element",
+ "Abnormal limb bone morphology",
+ "decreased length of neck",
+ "postcranial axial skeleton",
+ "multicellular organism",
+ "skeleton",
+ "negative regulation of gene expression",
+ "vertebra phenotype",
+ "upper jaw region",
+ "nervous system physiology phenotype",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "organ system subdivision",
+ "closing of the multicellular anatomical structure",
+ "trunk",
+ "Abnormality of the vertebral column",
+ "irregular bone phenotype",
+ "digit 1 or 5 phenotype",
+ "respiratory tube",
+ "respiratory tract",
+ "alimentary part of gastrointestinal system atresia",
+ "organ system subdivision phenotype",
+ "regulation of biological process phenotype",
+ "absent multicellular anatomical structure",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "vertebral column phenotype",
+ "autopodial extension phenotype",
+ "abdominal segment element",
+ "musculoskeletal system",
+ "Short neck",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "skeleton of limb",
+ "neck morphology phenotype",
+ "Abnormality of the urinary system",
+ "closing of the subdivision of tube",
+ "subdivision of skeletal system",
+ "entity",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "trunk or cervical vertebra phenotype",
+ "absent endochondral bone in the forelimb",
+ "bone of dorsum phenotype",
+ "trunk or cervical vertebra",
+ "Recurrent maladaptive behavior",
+ "ventricular system of central nervous system",
+ "neck bone",
+ "regulation of cellular process",
"lower limb segment phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "non-connected functional system",
- "secondary palate",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "shape anatomical entity",
- "forelimb skeleton",
- "trunk or cervical vertebra",
- "Low-set ears",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "absent bone of free limb or fin in the limb",
- "location of anatomical entity phenotype",
- "absent anatomical structure in the limb",
- "increased pigmentation in skin of body",
+ "absent forelimb long bone in the forelimb",
"Phenotypic abnormality",
- "Abnormal location of ears",
- "Abnormality of the outer ear",
- "forelimb zeugopod phenotype",
- "esophagus",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "forelimb endochondral element phenotype",
- "autopod region phenotype",
- "mandible morphology phenotype",
- "Abnormal respiratory system physiology",
- "musculature",
- "subdivision of organism along main body axis",
- "Talipes equinovarus",
- "craniocervical region phenotype",
- "pelvic region element phenotype",
- "Hypertelorism",
- "absent anatomical entity in the multicellular organism",
- "absent anatomical entity in the female reproductive system",
- "metabolic process",
- "shape of external ear phenotype",
- "autopodial extension phenotype",
- "decreased multicellular organismal process",
- "Abnormality of head or neck",
- "sensory system",
- "digit phenotype",
- "posterior region of body",
- "increased length of the non-material anatomical boundary",
- "anatomical structure physiology phenotype",
- "Decreased anatomical entity position",
- "Aplasia involving bones of the upper limbs",
- "hindlimb phenotype",
- "continuant",
- "Abnormality of the face",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "absent forelimb long bone",
+ "cervical vertebra",
+ "neck phenotype",
+ "increased number of anatomical entity",
"craniocervical region",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "head morphology phenotype",
- "immune system phenotype",
- "entire sense organ system",
- "organ subunit",
- "immaterial entity",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "bone of free limb or fin phenotype",
- "pelvic complex",
- "regulation of biosynthetic process",
+ "axon ensheathment phenotype",
+ "neck bone phenotype",
+ "Anal atresia",
+ "anatomical conduit",
"multicellular anatomical structure phenotype",
- "oviduct",
- "reproductive organ",
- "increased width of nasal bridge",
- "midface phenotype",
- "organ",
- "dermatocranium phenotype",
- "digit 1 or 5 phenotype",
- "system",
- "programmed DNA elimination",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "Abnormally increased volition",
- "anatomical entity morphology in the pectoral complex phenotype",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "Abnormal morphology of female internal genitalia",
- "quality",
- "leg",
- "organ system subdivision phenotype",
- "homeostatic process",
- "manual digit phenotype",
- "mouth",
- "Abnormality of the urinary system",
- "face phenotype",
+ "reproductive system phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "incomplete closing of the anatomical entity",
+ "nose tip phenotype",
+ "endochondral element phenotype",
+ "Abnormality of the neck",
+ "decreased behavior",
+ "Abnormal reproductive system morphology",
+ "delayed ensheathment of neurons",
+ "Abdominal symptom",
"dermal bone phenotype",
- "vertebra",
- "cerebrospinal fluid",
- "specifically dependent continuant",
- "digitopodium region",
- "absent bone element in the limb",
- "trachea",
- "anatomical system",
- "Positional foot deformity",
- "Wide nasal bridge",
- "Bilateral talipes equinovarus",
- "social inhibition",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased qualitatively biological_process",
- "pes",
- "absent organ",
- "process",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "arm bone phenotype",
- "Abnormal morphology of the radius",
- "cell differentiation",
- "Decreased external ear position",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "paired limb/fin phenotype",
- "dermal skeleton phenotype",
- "paired limb/fin segment phenotype",
- "cervical vertebra",
- "compound organ",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "anatomical system phenotype",
- "Eukaryota",
- "brain ventricle morphology phenotype",
- "skeletal system morphology phenotype",
- "lower limb segment",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "head bone phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal ocular adnexa morphology",
+ "phenotype",
+ "brain",
+ "glial cell development",
+ "anatomical space",
+ "cognitive behavior",
+ "decreased size of the multicellular anatomical structure",
+ "increased biological_process in skin of body",
+ "digit 1 or 5",
+ "bone of jaw",
+ "absent anatomical entity in the renal system",
+ "incomplete closing of the material anatomical entity",
+ "decreased length of multicellular anatomical structure",
+ "Chromosome breakage",
+ "paired limb/fin",
+ "Delayed myelination",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "bone of jaw phenotype",
+ "Abnormality of skin pigmentation",
+ "size of anatomical entity phenotype",
+ "Abnormal brain morphology",
+ "skeleton of lower jaw",
+ "bone of free limb or fin phenotype",
+ "Attention deficit hyperactivity disorder",
+ "snout morphology phenotype",
+ "anatomical entity phenotype",
+ "mandible phenotype",
+ "axial skeletal system",
+ "Growth abnormality",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "organism",
+ "secondary palate",
+ "vertebral column",
+ "thoracic cavity element",
+ "Abnormal nasal morphology",
+ "absent autopodial extension",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nasal bridge",
+ "decreased length of organism subdivision",
+ "bone of lower jaw",
+ "simple eye",
+ "cervical vertebra phenotype",
+ "sensory system",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "decreased length of anatomical structure",
+ "agenesis of anatomical entity",
+ "All",
+ "nervous system phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "skeletal system",
"Abnormality of the ear",
- "Talipes",
- "decreased size of the anatomical structure",
- "location of ear phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "cranial skeletal system",
- "Microphthalmia",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Aplasia involving forearm bones",
- "organ part atresia",
- "Abnormality of the digestive system",
- "closing of the thoracic segment organ",
- "anatomical entity atresia",
- "myeloid cell",
- "skeletal system phenotype",
- "forelimb morphology phenotype",
- "Aplasia/Hypoplasia of the ear",
- "head phenotype",
- "anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "absent material anatomical entity",
+ "endochondral bone phenotype",
+ "Abnormal social development",
"cognition",
- "sensation behavior",
- "closing of the subdivision of tube",
- "Abnormal oral cavity morphology",
- "limb skeleton subdivision",
- "Abnormality of metabolism/homeostasis",
- "dentary",
+ "uterus phenotype",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "esophagus morphology phenotype",
"subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "midface",
- "Delayed myelination",
- "Abnormality of limb bone",
- "external ear",
- "Absent forearm bone",
- "lower jaw region",
- "pes phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "All",
- "tube",
- "subdivision of tube phenotype",
- "cervical vertebra phenotype",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "primary subdivision of skull phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "appendage phenotype",
- "growth phenotype",
- "absent multicellular anatomical structure in the limb",
- "Abnormal ear morphology",
- "facial bone hypoplasia",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "skeletal element phenotype",
- "Aplasia/Hypoplasia of the mandible",
- "zeugopod",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "mandible",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "limb segment",
- "female reproductive organ",
- "musculoskeletal system",
- "pelvic appendage",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "hindlimb morphology phenotype",
- "regulation of macromolecule metabolic process",
- "absent endochondral element in the forelimb",
- "organ atresia",
- "absent mesoderm-derived structure in the limb",
- "Renal agenesis",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "absent trunk region element in the multicellular organism",
- "thoracic cavity element atresia",
- "forelimb endochondral element",
"craniofacial/craniocervical phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "organism subdivision",
- "absent anatomical entity in the reproductive system",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "behavior",
- "leg phenotype",
- "male reproductive system",
- "organism subdivision phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "nose tip morphology phenotype",
- "anatomical entity phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "nose tip phenotype",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "forelimb phenotype",
- "absent bone of appendage girdle complex",
- "internal female genitalia morphology phenotype",
- "external ear morphology phenotype",
- "oxygen accumulating cell",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "absent long bone in the forelimb",
- "tube phenotype",
- "primary subdivision of skull",
- "subdivision of organism along main body axis phenotype",
+ "absent anatomical structure in the multicellular organism",
"body proper",
- "musculature of body phenotype",
- "nasal bridge",
- "Short attention span",
- "Growth abnormality",
- "bone of jaw",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "long bone morphology phenotype",
- "postcranial axial skeleton",
- "anatomical conduit phenotype",
- "digestive tract",
- "skeleton of limb",
- "ocular adnexa phenotype",
- "Reduced social responsiveness",
- "Bone marrow hypocellularity",
- "absent multicellular anatomical structure in the forelimb",
- "Anemia",
- "number of anatomical enitites of type anatomical structure phenotype",
- "absent forelimb endochondral element in the forelimb",
- "axial skeletal system",
- "Abnormality of the mouth",
- "facial skeleton morphology phenotype",
- "Abnormal pinna morphology",
- "organ part phenotype",
- "dermal skeleton",
- "cerebellum morphology phenotype",
- "Abnormality of the kidney",
- "bone of lower jaw",
- "phenotype",
- "dermal skeletal element",
- "face morphology phenotype",
- "regional part of nervous system phenotype",
- "subdivision of trunk",
- "membrane bone",
- "ear morphology phenotype",
- "organ component layer",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "intromittent organ",
- "anus morphology phenotype",
- "bone of craniocervical region",
- "Cleft palate",
- "absent bone of appendage girdle complex in the limb",
- "Hyperactivity",
- "subdivision of digestive tract phenotype",
- "radius endochondral element",
- "anatomical collection",
- "limb bone",
- "camera-type eye phenotype",
- "absent forelimb bone in the forelimb",
- "ear phenotype",
- "mouth phenotype",
- "autopod region morphology phenotype",
- "bone element hypoplasia in face",
- "embryo development",
- "increased width of anatomical entity",
- "location of external ear phenotype",
- "multicellular organism",
- "dermal skeletal element phenotype",
- "bone of lower jaw phenotype",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
+ "dorsal region element",
+ "taxon specific phenotype",
+ "skeletal element",
+ "Abnormality of the immune system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "Abnormal ear morphology",
+ "Abnormal finger morphology",
"absent organism subdivision in the multicellular organism",
- "Abnormal foot morphology",
- "skeleton of lower jaw",
- "anatomical structure development",
- "bodily fluid phenotype",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "cerebrospinal fluid morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "absent bone of pectoral complex in the limb",
- "digestive system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "tracheobronchial tree",
- "number of anatomical enitites of type skeletal element phenotype",
- "decreased size of the material anatomical entity",
- "absent multicellular anatomical structure in the ear",
- "jaw skeleton morphology phenotype",
- "negative regulation of cellular process",
- "Abnormal oral morphology",
- "vertebra phenotype",
- "aplastic anatomical entity",
- "bone of dorsum",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "Abnormal jaw morphology",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "organism substance phenotype",
- "absent long bone",
- "irregular bone phenotype",
- "anatomical entity hypoplasia",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "absent limb long bone",
- "dentary phenotype",
- "neck bone",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "decreased social inhibition",
- "hindbrain morphology phenotype",
- "cranial skeletal system phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "external soft tissue zone",
- "digestive system element phenotype",
- "pes morphology phenotype",
- "zeugopod phenotype",
- "postcranial axial skeleton phenotype",
- "digestive system morphology phenotype",
- "nervous system",
- "jaw region",
- "Abnormal neck morphology",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Aplasia/Hypoplasia of facial bones",
- "mandible phenotype",
- "organ phenotype",
- "absent subdivision of tube in the female reproductive system",
- "skeleton",
- "internal genitalia phenotype",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "aplasia or hypoplasia of skeleton",
"appendicular skeleton morphology phenotype",
- "radius bone",
- "absent abdominal segment element in the renal system",
- "subdivision of skeleton phenotype",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "facial bone phenotype",
- "Abnormality of chromosome stability",
"occurrent",
- "anatomical collection phenotype",
- "respiratory tract",
- "skeleton phenotype",
- "absent bone of pectoral complex in the forelimb",
- "paired limb/fin skeleton",
+ "multicellular organismal process phenotype",
+ "increased number of material anatomical entity",
+ "absent anatomical structure in the limb",
+ "decreased qualitatively multicellular organismal process",
+ "absent abdominal segment element",
+ "Unilateral renal agenesis",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "digitopodium region",
+ "thoracic segment organ atresia",
+ "Aplasia/Hypoplasia of fingers",
+ "mouth morphology phenotype",
+ "genitourinary system phenotype",
+ "Abnormality of mental function",
+ "Depressed nasal tip",
+ "decreased multicellular organismal process",
+ "upper limb segment phenotype",
+ "Cognitive impairment",
+ "Webbed neck",
+ "absent material anatomical entity in the multicellular organism",
+ "Talipes",
+ "subdivision of vertebral column",
"absent manual digit",
- "external nose phenotype",
+ "social inhibition",
+ "dorsal region element phenotype",
+ "material anatomical entity physiology phenotype",
"Abnormal digit morphology",
- "negative regulation of metabolic process phenotype",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "autopodial skeleton",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "Abnormal sacrum morphology",
+ "material anatomical entity phenotype",
+ "Reduced social responsiveness",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormality of the nose",
"absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "main body axis",
- "Abnormal cerebrospinal fluid morphology",
- "external nose morphology phenotype",
- "aplasia or hypoplasia of fused sacrum",
- "Absent thumb",
- "anatomical entity morphology in the manus phenotype",
- "digestive system physiology phenotype",
- "male reproductive organ",
- "manual digit 1 morphology phenotype",
- "Abnormal nasal bridge morphology",
- "immaterial anatomical entity",
- "visual system phenotype",
- "multicellular organism phenotype",
- "eyeball of camera-type eye phenotype",
- "Macule",
- "eyeball of camera-type eye",
- "eye phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "material entity",
- "material anatomical entity atresia",
- "vision/eye phenotype",
- "bone marrow cell",
- "simple eye phenotype",
- "blood cell phenotype",
- "orbital region phenotype",
- "absent anatomical entity in the renal system",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "Aplasia/hypoplasia involving forearm bones",
- "Aplasia/Hypoplasia of the sacrum",
- "decreased size of the ectoderm-derived structure",
- "cerebellum hypoplasia",
- "camera-type eye",
- "Morphological central nervous system abnormality",
- "visual system",
- "ectoderm-derived structure atresia",
- "nose morphology phenotype",
- "decreased size of the sense organ",
- "size of anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent external ear in the head",
- "abdominal segment element",
+ "absent multicellular anatomical structure in the head",
+ "Abnormal neck morphology",
+ "protein-containing material entity",
+ "segment of manus",
+ "sense organ phenotype",
+ "anatomical conduit phenotype",
+ "axial skeleton plus cranial skeleton",
+ "neurogenesis",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "cerebellum morphology phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "Abnormality of the hand",
+ "Anemia",
+ "absent multicellular anatomical structure in the forelimb",
+ "decreased size of the anatomical entity",
"Abnormal cellular physiology",
- "Aplasia/Hypoplasia of the external ear",
- "regulation of metabolic process phenotype",
- "anatomical structure",
- "absent anatomical structure in the head",
- "number of anatomical enitites of type lateral structure phenotype",
- "Anotia",
- "aplasia or hypoplasia of skull",
- "increased size of the anatomical line",
- "absent anatomical entity in the ear",
- "absent subdivision of head in the head",
- "trunk bone",
- "subdivision of organism along appendicular axis phenotype",
- "absent anatomical entity in the head",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "absent lateral structure in the head",
- "Neurodevelopmental abnormality",
- "anatomical wall phenotype",
- "absent external ear",
- "increased biological_process",
- "absent subdivision of head",
- "absent organism subdivision in the head",
- "aplasia or hypoplasia of ear",
- "bony pelvis",
- "axial skeleton plus cranial skeleton phenotype",
- "vertebral column phenotype",
- "trunk region element phenotype",
- "fused sacrum",
- "pelvic region element",
- "abdominal segment bone",
- "sacral region of vertebral column",
- "abdominal segment of trunk",
- "sacral region of vertebral column phenotype",
- "aplasia or hypoplasia of vertebral column",
- "fused sacrum hypoplasia",
- "bone of dorsum phenotype",
- "viscus",
- "dorsal region element phenotype",
+ "absent anatomical entity in the skeletal system",
+ "forelimb morphology phenotype",
"absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "dorsum",
- "trunk",
+ "digit",
+ "decreased qualitatively multicellular organism development",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "paired limb/fin phenotype",
+ "Abnormal internal genitalia",
+ "autopod region phenotype",
+ "brain morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "abdomen element",
+ "homeostatic process phenotype",
+ "behavior",
+ "Renal agenesis",
+ "Cleft palate",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "limb endochondral element",
+ "organ component layer",
+ "penis hypoplasia",
+ "autopodial skeleton",
+ "digit 1 phenotype",
+ "multi organ part structure",
+ "Abnormal facial skeleton morphology",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
+ "camera-type eye",
"fused sacrum phenotype",
- "Hypoplastic sacrum",
- "abdominal segment element phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "subdivision of trunk phenotype",
- "Aplasia/Hypoplasia involving the vertebral column",
- "limb bone phenotype",
- "thoracic segment organ phenotype",
- "dorsal region element",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Abnormality of the vertebral column",
- "trunk phenotype",
- "midface morphology phenotype",
- "absent anatomical structure in the female reproductive system",
- "reproductive structure",
- "uterus",
+ "trunk bone",
+ "manual digit 1 plus metapodial segment",
+ "lateral structure",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormality of the cervical spine",
"increased pigmentation",
- "Abnormal cell morphology",
- "internal genitalia",
- "bone of craniocervical region phenotype",
- "autopod region",
- "aplasia or hypoplasia of uterus",
- "Chromosome breakage",
- "increased number of anatomical structure in the cerebrospinal fluid",
+ "Abnormal skeletal morphology",
+ "external ear hypoplasia",
+ "axon ensheathment in central nervous system phenotype",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "manual digit",
+ "arm",
"increased number of brain ventricle in the cerebrospinal fluid",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "absent uterus in the female reproductive system",
- "Abnormal internal genitalia",
- "reproductive organ phenotype",
- "Aplasia/hypoplasia of the uterus",
- "manus",
- "absent reproductive structure",
- "increased biological_process in skin of body",
- "genitourinary system phenotype",
- "increased number of brain ventricle/choroid plexus",
- "facial skeleton",
- "Aplasia of the uterus",
- "neurogenesis",
- "regulation of cellular biosynthetic process phenotype",
- "cerebellum phenotype",
- "oviduct phenotype",
- "female reproductive system",
- "absent multicellular anatomical structure in the female reproductive system",
- "number of anatomical enitites of type organ part phenotype",
- "simple eye",
- "number of anatomical enitites of type reproductive structure phenotype",
+ "anatomical wall",
+ "absent bone of free limb or fin",
+ "bone of appendage girdle complex",
+ "regulation of biological process",
+ "decreased multicellular organism development",
+ "Abnormality of the anus",
+ "digit 1 plus metapodial segment",
+ "cerebrospinal fluid morphology phenotype",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "paired limb/fin skeleton",
+ "esophagus phenotype",
+ "limb phenotype",
+ "skeleton phenotype",
+ "paired limb/fin segment",
+ "erythrocyte morphology phenotype",
+ "Abnormal bone marrow cell morphology",
+ "acropodium region",
+ "absent anatomical structure in the forelimb",
+ "multi-limb segment region",
+ "Abnormal social behavior",
+ "ventricle of nervous system",
+ "anatomical point",
+ "subdivision of digestive tract phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "cell development",
+ "manus phenotype",
+ "continuant",
+ "hindlimb",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent organism subdivision",
+ "digit 1",
+ "Hyperactivity",
+ "absent organ in the multicellular organism",
+ "mesoderm-derived structure",
+ "Aplasia/Hypoplasia of the thumb",
+ "cell",
+ "Abnormality of the mouth",
+ "limb",
+ "limb long bone morphology phenotype",
+ "absent subdivision of oviduct in the female reproductive system",
+ "increased size of the material anatomical entity",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "endochondral bone",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "bone of dorsum",
+ "sensation behavior",
+ "digit morphology phenotype",
+ "Aplasia/Hypoplasia involving the vertebral column",
+ "location of anatomical entity phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "limb endochondral element phenotype",
+ "ensheathment of neurons",
+ "increased length of the non-material anatomical boundary",
+ "fused sacrum hypoplasia",
+ "forelimb zeugopod morphology phenotype",
+ "trunk bone phenotype",
"penis",
- "absent digit",
- "female reproductive organ morphology phenotype",
- "ventricle of nervous system phenotype",
- "subdivision of oviduct",
- "increased number of organ component layer",
- "absent organ part",
- "number of anatomical enitites of type subdivision of tube phenotype",
- "internal female genitalia",
- "absent anatomical structure in the reproductive system",
- "jaw skeleton",
- "penis phenotype",
- "Abnormality of the genitourinary system",
- "Abnormality of the uterus",
+ "increased size of the anatomical line",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Abnormality of globe location",
"shape nose tip",
- "absent multicellular anatomical structure in the reproductive system",
- "reproductive structure phenotype",
- "paired limb/fin",
- "Hypoplastic male external genitalia",
- "regulation of gene expression phenotype",
- "absent organ part in the female reproductive system",
- "absent subdivision of oviduct",
- "system process",
- "brain ventricle/choroid plexus phenotype",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
+ "Abnormal nasal bridge morphology",
+ "erythroid lineage cell",
"increased length of the anatomical entity",
- "absent reproductive structure in the reproductive system",
- "absent mesoderm-derived structure",
- "absent subdivision of tube",
- "genitourinary system",
- "appendage girdle complex",
- "uterus phenotype",
- "Global developmental delay",
- "absent subdivision of oviduct in the female reproductive system",
- "pelvic region of trunk",
- "absent material anatomical entity in the female reproductive system",
- "Reduced attention regulation",
- "reproductive system morphology phenotype",
- "manual digit",
- "vertebral element phenotype",
- "increased width of ectoderm-derived structure",
- "Abnormality of the genital system",
- "cervical region",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "pectoral complex",
- "cervical region of vertebral column",
- "decreased qualitatively developmental process",
- "Aplasia/Hypoplasia of the cerebellum",
- "Abnormal tracheal morphology",
- "neck morphology phenotype",
- "decreased length of anatomical entity",
- "subdivision of head phenotype",
- "Hydrocephalus",
- "decreased length of multicellular anatomical structure",
- "Depressed nasal tip",
- "aplasia or hypoplasia of cerebellum",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "neck bone phenotype",
- "Abnormality of the cervical spine",
- "absent forelimb bone in the limb",
- "decreased length of anatomical structure",
- "decreased length of organism subdivision",
- "Short neck",
- "Neurodevelopmental delay",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "obsolete cell",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "negative regulation of macromolecule metabolic process",
- "regulation of cellular biosynthetic process",
- "behavior phenotype",
- "Abnormal hindbrain morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "programmed DNA elimination by chromosome breakage",
- "segmental subdivision of nervous system",
- "Abnormal eyelid morphology",
- "aplasia or hypoplasia of external ear",
- "anatomical point",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "biological regulation",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "negative regulation of gene expression",
- "cell phenotype",
- "pectoral appendage phenotype",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "male organism",
- "Abnormal cellular phenotype",
- "palpebral fissure phenotype",
- "upper urinary tract phenotype",
- "cognitive behavior",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of metabolic process",
- "brain",
- "cell",
- "absent endochondral element in the limb",
- "Abnormal esophagus morphology",
- "anatomical point phenotype",
- "thoracic cavity element phenotype",
- "oral cavity phenotype",
- "increased number of ectoderm-derived structure",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "esophagus phenotype",
- "Esophageal atresia",
+ "Cafe-au-lait spot",
+ "anatomical line",
+ "decreased qualitatively anatomical structure development",
"immaterial anatomical entity phenotype",
- "subdivision of vertebral column phenotype",
- "trunk region element atresia",
- "axon ensheathment phenotype",
- "irregular bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "esophagus atresia",
- "closing of the trunk region element",
+ "non-material anatomical boundary phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the eye",
+ "increased length of the immaterial anatomical entity",
+ "subdivision of oviduct phenotype",
+ "ectoderm-derived structure phenotype",
+ "regulation of biosynthetic process",
+ "immaterial anatomical entity",
+ "Abnormal digestive system morphology",
+ "Abnormal CNS myelination",
+ "increased length of the anatomical line",
"viscus phenotype",
- "absent lateral structure",
- "esophagus morphology phenotype",
- "olfactory organ",
- "cellular process phenotype",
- "number of anatomical enitites of type kidney phenotype",
- "absent trunk region element",
- "closing of the organ",
- "alimentary part of gastrointestinal system atresia",
- "absent skeletal element",
- "thoracic segment organ atresia",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
+ "regional part of nervous system",
+ "Abnormal midface morphology",
+ "location of eyeball of camera-type eye phenotype",
+ "anatomical line phenotype",
+ "organism subdivision phenotype",
+ "Hypoplastic facial bones",
"respiratory system phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "Recurrent maladaptive behavior",
- "absent material anatomical entity in the ear",
- "closing of the anatomical system",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of tube atresia",
- "closing of the multicellular anatomical structure",
"absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "alimentary part of gastrointestinal system phenotype",
- "alimentary part of gastrointestinal system",
- "Abnormality of digestive system physiology",
- "Abdominal symptom",
- "Feeding difficulties",
- "central nervous system phenotype",
- "multi-tissue structure",
- "central nervous system",
- "Cerebellar hypoplasia",
- "lateral structure",
- "erythrocyte morphology phenotype",
- "metencephalon",
- "organism",
- "structure with developmental contribution from neural crest",
- "primary subdivision of cranial skeletal system",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "respiratory system morphology phenotype",
- "segment of autopod",
- "decreased size of the organism subdivision",
- "Metazoa",
- "segmental subdivision of hindbrain phenotype",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "Abnormal nervous system morphology",
+ "delayed biological_process",
+ "multicellular organism morphology phenotype",
+ "absent anatomical structure in the head",
+ "axon ensheathment",
+ "delayed myelination",
+ "glial cell differentiation",
+ "myelination",
+ "absent subdivision of tube in the female reproductive system",
+ "myelination phenotype",
"root",
- "digit",
- "nose phenotype",
- "axial skeleton plus cranial skeleton",
- "external nose",
- "upper digestive tract",
+ "delayed central nervous system myelination",
+ "multicellular organism development",
+ "Hypoplastic male external genitalia",
+ "ensheathment of neurons phenotype",
+ "appendage",
+ "central nervous system myelination phenotype",
+ "skeletal system phenotype",
+ "Abnormal mandible morphology",
+ "anatomical structure development",
+ "oligodendrocyte development",
+ "absent anatomical entity",
+ "decreased size of the eyeball of camera-type eye",
+ "central nervous system myelination",
+ "bone of lower jaw phenotype",
+ "Abnormal myelination",
+ "cellular process",
+ "long bone morphology phenotype",
+ "delayed cellular process",
+ "dermal skeleton",
+ "phenotypic effect",
+ "female reproductive system",
+ "cellular process phenotype",
+ "limb segment",
"external genitalia phenotype",
- "Opisthokonta",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "forelimb long bone",
- "female organism",
- "brain morphology phenotype",
- "Abnormal external nose morphology",
+ "cellular developmental process",
+ "limb long bone phenotype",
+ "facial skeleton morphology phenotype",
+ "nervous system development",
+ "anatomical structure phenotype",
+ "decreased anatomical structure development",
+ "Talipes equinovarus",
+ "leg",
+ "Abnormality of the lower limb",
+ "Hypermelanotic macule",
+ "lower limb segment",
+ "Abnormal palate morphology",
+ "Abnormality of digestive system physiology",
+ "Abnormal cell morphology",
+ "leg phenotype",
+ "subdivision of skeletal system phenotype",
+ "incomplete closing of the secondary palate",
+ "integument",
+ "pelvic appendage",
+ "pes morphology phenotype",
+ "internal genitalia",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the uterus",
+ "Hyperpigmentation of the skin",
+ "Positional foot deformity",
+ "absent anatomical entity in the multicellular organism",
+ "Microphthalmia",
+ "pelvic complex",
+ "posterior region of body",
+ "hindlimb morphology phenotype",
+ "Decreased external ear position",
+ "Decreased anatomical entity position",
"cellular organisms",
- "hindbrain phenotype",
- "Webbed neck",
- "eye",
- "Abnormal brain morphology",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "Abnormal nasal morphology",
- "nose",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "pigmentation",
- "increased size of the anatomical structure",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
+ "regulation of cellular metabolic process",
+ "arm phenotype",
+ "location of ear phenotype",
"skeleton of pectoral complex",
- "respiratory airway",
- "increased size of the anatomical entity",
- "absent anatomical structure in the skeletal system",
- "increased width of material anatomical entity",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "nasal bridge morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "pigmentation phenotype",
- "delayed axon ensheathment",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "Renal hypoplasia",
- "snout",
- "snout morphology phenotype",
- "internal female genitalia phenotype",
- "anatomical line",
- "Abnormal limb bone morphology",
- "olfactory organ phenotype",
- "incomplete closing of the anatomical entity",
- "secondary palate morphology phenotype",
- "kidney",
- "hindlimb",
- "incomplete closing of the anatomical structure",
+ "specifically dependent continuant",
+ "Abnormal location of ears",
+ "Low-set ears",
+ "irregular bone",
+ "Abnormal jaw morphology",
+ "digestive system morphology phenotype",
+ "absent bone of pectoral complex in the limb",
+ "intramembranous bone",
+ "Abnormality of the genital system",
+ "mouth",
+ "Aplasia/Hypoplasia of the mandible",
+ "primary subdivision of cranial skeletal system",
+ "absent forelimb endochondral element in the limb",
+ "embryo development rate phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "absent radius endochondral element",
+ "aplasia or hypoplasia of mandible",
+ "facial bone hypoplasia",
+ "Abnormality of the genitourinary system",
+ "bone of craniocervical region phenotype",
+ "digestive system element phenotype",
+ "Abnormal eye morphology",
+ "head bone morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "neural crest-derived structure phenotype",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "absent subdivision of head in the head",
+ "dentary phenotype",
+ "metencephalon morphology phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "mandible",
+ "increased number of brain ventricle",
+ "facial bone",
+ "immune system",
+ "facial skeleton",
+ "absent abdomen element in the renal system",
+ "jaw skeleton",
+ "dermal bone",
+ "absent radius bone",
+ "cranial skeletal system",
+ "Wide nasal bridge",
+ "postcranial axial skeletal system",
+ "absent multicellular anatomical structure in the ear",
+ "primary subdivision of skull",
+ "thoracic segment organ phenotype",
+ "Micrognathia",
+ "bone element hypoplasia in face",
"flattened anatomical entity",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "oral cavity",
"neural crest-derived structure",
- "incomplete closing of the secondary palate",
- "appendicular skeleton",
- "skeletal system",
- "organ component layer phenotype",
- "roof of mouth",
- "biological regulation phenotype",
- "digestive system",
- "anatomical space phenotype",
- "delayed biological_process",
- "anatomical space",
- "incomplete closing of the multi-tissue structure",
- "incomplete closing of the neural crest-derived structure",
- "anatomical cavity",
- "manual digitopodium region",
- "incomplete closing of the roof of mouth",
+ "dermal skeletal element phenotype",
+ "nasal bridge morphology phenotype",
+ "absent kidney in the renal system",
+ "subdivision of tube phenotype",
+ "Abnormality of the uterus",
+ "membrane bone phenotype",
+ "Abnormal oral morphology",
+ "absent arm bone in the forelimb",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
"Delayed CNS myelination",
- "neck phenotype",
- "opening of the anatomical entity",
- "incomplete closing of the ectoderm-derived structure",
- "Micropenis",
- "penis hypoplasia",
- "eyelid morphology phenotype",
- "External genital hypoplasia",
- "Abnormality of the male genitalia",
- "Hypoplasia of penis",
- "Abnormal respiratory system morphology",
- "compound organ phenotype",
- "respiratory tube",
- "increased number of brain ventricle",
- "lower respiratory tract",
- "proximo-distal subdivision of respiratory tract",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "Abnormality of the respiratory system",
- "endoderm-derived structure",
- "proximo-distal subdivision of respiratory tract phenotype",
+ "oral cavity",
+ "organ component layer phenotype",
+ "behavior process phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "dentary",
+ "lower jaw region",
+ "Abnormal metencephalon morphology",
+ "absent skeletal element",
+ "Aplasia involving bones of the extremities",
+ "Aplasia involving forearm bones",
+ "absent forelimb bone in the forelimb",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "zeugopodial skeleton",
+ "forelimb long bone",
+ "arm bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "limb long bone",
+ "mandible hypoplasia",
+ "Aplasia involving bones of the upper limbs",
+ "shape anatomical entity",
+ "absent forelimb zeugopod bone in the forelimb",
+ "forelimb endochondral element",
+ "increased width of material anatomical entity",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "entire sense organ system",
+ "decreased rate of behavior process",
+ "absent bone of pectoral complex",
+ "absent subdivision of oviduct",
+ "regulation of cellular biosynthetic process",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "delayed axon ensheathment",
+ "number of anatomical enitites of type organ phenotype",
+ "closing of the organ part",
+ "absent forelimb endochondral element in the forelimb",
+ "closing of the thoracic segment organ",
+ "absent endochondral bone in the limb",
+ "autopod region",
+ "absent anatomical structure in the ear",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
"tissue",
- "absent organ in the renal system",
- "Abnormality of blood and blood-forming tissues",
- "Abnormality of the immune system",
- "closing of the anatomical conduit",
- "immune system",
- "bone cell",
- "hemolymphoid system",
- "regulation of cellular process",
- "hematopoietic system",
- "increased number of multicellular anatomical structure",
- "increased number of organ component layer in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "brain ventricle/choroid plexus",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "transudate",
- "increased number of material anatomical entity",
- "organ system subdivision",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "upper limb segment",
- "increased number of anatomical structure",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "brain ventricle phenotype",
- "erythroid lineage cell morphology phenotype",
- "cerebrospinal fluid phenotype",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "pelvic appendage phenotype",
- "absent radius bone in the forelimb",
- "bodily fluid",
- "metencephalon morphology phenotype",
- "increased number of organ part",
- "organ part",
- "external soft tissue zone phenotype",
- "Abnormal nasal tip morphology",
- "nose tip",
- "non-material anatomical boundary phenotype",
- "increased length of the anatomical line",
- "increased length of the immaterial anatomical entity",
- "ocular adnexa",
- "anatomical line between pupils",
- "location of eyeball of camera-type eye phenotype",
- "non-material anatomical boundary",
- "negative regulation of biological process phenotype",
- "anatomical line phenotype",
- "Abnormality of globe location",
- "increased size of the immaterial anatomical entity",
- "regulation of cellular metabolic process",
- "external male genitalia hypoplasia",
- "blood cell",
+ "absent anatomical structure in the skeletal system",
+ "trunk region element atresia",
+ "absent bone of free limb or fin in the forelimb",
+ "radius bone phenotype",
+ "forelimb long bone phenotype",
+ "number of anatomical enitites of type bone element phenotype",
+ "aplasia or hypoplasia of fused sacrum",
+ "absent limb long bone in the forelimb",
+ "absent forelimb bone in the limb",
+ "Abnormal morphology of the radius",
+ "absent bone element",
+ "absent forelimb bone",
+ "absent endochondral element in the forelimb",
+ "decreased size of the organ",
+ "absent organ",
+ "absent bone of appendage girdle complex in the limb",
+ "hindbrain",
+ "decreased size of the material anatomical entity",
+ "Absent forearm bone",
+ "oviduct",
+ "forelimb bone phenotype",
+ "absent limb bone",
+ "Aplasia/Hypoplasia of the radius",
+ "absent organ in the limb",
+ "behavior phenotype",
+ "segmental subdivision of hindbrain",
+ "absent endochondral element",
+ "absent organ in the forelimb",
+ "arm bone phenotype",
+ "Abnormal hindbrain morphology",
+ "delayed growth",
+ "negative regulation of macromolecule metabolic process",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "thoracic cavity element atresia",
+ "skin of body",
"absent endochondral bone",
- "erythrocyte",
+ "bone of pectoral complex phenotype",
+ "absent radius bone in the forelimb",
+ "Disinhibition",
+ "Abnormal forearm bone morphology",
+ "absent long bone",
+ "absent bone of pectoral complex in the forelimb",
+ "digestive system element",
+ "Orofacial cleft",
+ "absent arm bone",
+ "reproductive organ",
+ "multi-limb segment region phenotype",
+ "olfactory organ phenotype",
+ "absent bone element in the limb",
+ "absent material anatomical entity in the ear",
+ "Aplasia/hypoplasia involving forearm bones",
+ "long bone phenotype",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "absent forelimb zeugopod bone",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "Growth delay",
+ "radius bone",
+ "growth phenotype",
+ "embryo development phenotype",
+ "Abnormal tracheobronchial morphology",
+ "embryo development",
+ "decreased qualitatively developmental process",
+ "Intrauterine growth retardation",
+ "multicellular organism development phenotype",
+ "developmental process phenotype",
+ "anatomical structure development phenotype",
+ "decreased embryo development",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "uterus",
+ "size of eyeball of camera-type eye phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "absent uterus in the female reproductive system",
+ "absent material anatomical entity in the head",
+ "absent lateral structure",
+ "abdominal segment bone phenotype",
+ "increased size of the anatomical entity",
+ "absent lateral structure in the head",
+ "limb skeleton subdivision",
+ "absent anatomical entity in the ear",
+ "Anotia",
+ "aplasia or hypoplasia of manual digit 1",
+ "absent subdivision of head",
+ "male reproductive system",
+ "absent anatomical entity in the head",
+ "incomplete closing of the multi-tissue structure",
+ "female reproductive system morphology phenotype",
+ "internal female genitalia",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "closing of the material anatomical entity",
+ "upper limb segment",
+ "biological_process phenotype",
+ "biological_process",
+ "bone marrow cell",
+ "absent limb endochondral element in the limb",
+ "absent anatomical structure in the female reproductive system",
+ "forelimb",
+ "Aplasia of the uterus",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "hematopoietic system phenotype",
+ "reproductive structure phenotype",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the female reproductive system",
"system development",
- "absent limb endochondral element in the forelimb",
+ "absent reproductive structure",
+ "appendage phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
+ "blood cell",
+ "aplasia or hypoplasia of uterus",
+ "absent material anatomical entity in the reproductive system",
+ "limb bone",
+ "subdivision of oviduct",
+ "subdivision of tube atresia",
+ "absent limb long bone",
+ "internal female genitalia morphology phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "Abnormal myeloid cell morphology",
+ "absent bone of free limb or fin in the limb",
+ "segmental subdivision of nervous system",
+ "genitourinary system",
+ "absent reproductive structure in the reproductive system",
+ "reproductive structure",
+ "female organism",
+ "absent anatomical entity in the female reproductive system",
+ "multicellular organismal process",
+ "absent reproductive structure in the female reproductive system",
+ "Abnormal morphology of female internal genitalia",
+ "location of external ear phenotype",
+ "decreased qualitatively behavior",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Neurodevelopmental abnormality",
+ "Neurodevelopmental delay",
+ "closing of the organ",
+ "closing of the trunk region element",
+ "closing of the anatomical system",
+ "closing of the anatomical entity",
+ "mandible morphology phenotype",
+ "esophagus atresia",
+ "organ part atresia",
+ "anatomical structure atresia",
+ "anatomical entity atresia",
+ "process",
+ "gliogenesis",
+ "Gastrointestinal atresia",
+ "subdivision of digestive tract atresia",
+ "Esophageal atresia",
+ "anatomical system atresia",
+ "thoracic cavity element phenotype",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "material anatomical entity atresia",
+ "digestive system physiology phenotype",
+ "anatomical point phenotype",
+ "Feeding difficulties",
+ "Microtia",
+ "regional part of brain phenotype",
+ "Eumetazoa",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "cerebellum hypoplasia",
+ "brain ventricle",
+ "regional part of nervous system phenotype",
+ "Abnormal nervous system morphology",
+ "cerebellum",
+ "external genitalia",
+ "regional part of brain",
+ "midface morphology phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "head bone",
+ "nasal bridge phenotype",
+ "bone cell",
+ "nose morphology phenotype",
+ "vestibulo-auditory system",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "olfactory organ",
+ "increased width of anatomical entity",
+ "nose",
+ "Abnormality of the palpebral fissures",
+ "decreased developmental process",
+ "snout",
+ "decreased qualitatively embryo development",
+ "increased width of ectoderm-derived structure",
+ "anatomical collection",
+ "Macule",
+ "regulation of macromolecule metabolic process",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digestive system element atresia",
+ "increased width of nasal bridge",
+ "increased width of anatomical structure",
+ "nose phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "negative regulation of biological process",
+ "incomplete closing of the neural crest-derived structure",
+ "oral cavity morphology phenotype",
+ "Craniofacial cleft",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the anatomical structure",
+ "Hydrocephalus",
+ "incomplete closing of the multicellular anatomical structure",
+ "penis phenotype",
+ "absent external ear in the head",
+ "Abnormal male external genitalia morphology",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "external male genitalia",
+ "respiratory system morphology phenotype",
+ "intromittent organ",
+ "Abnormal foot morphology",
+ "External genital hypoplasia",
+ "male organism",
+ "social behavior",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "external male genitalia phenotype",
+ "Cerebellar hypoplasia",
+ "Hypoplasia of penis",
+ "Abnormal external genitalia",
+ "multicellular anatomical structure",
+ "hematopoietic system",
+ "anus atresia",
+ "bone marrow",
+ "mouth phenotype",
+ "digit phenotype",
+ "immune system phenotype",
+ "Bone marrow hypocellularity",
+ "Abnormal external nose morphology",
+ "flat nose tip",
+ "curvature anatomical entity",
+ "external nose",
+ "nose tip morphology phenotype",
+ "oligodendrocyte differentiation",
+ "Abnormal nasal tip morphology",
+ "anatomical entity physiology phenotype",
+ "erythrocyte",
+ "external nose morphology phenotype",
+ "manual digit phenotype",
+ "oxygen accumulating cell",
+ "limb segment phenotype",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
"hematopoietic cell",
- "integumental system phenotype",
- "Anal atresia",
- "increased qualitatively biological_process",
- "Abnormality of skin pigmentation",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "paired limb/fin skeleton phenotype",
- "Orofacial cleft",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
+ "Abnormality of the integument",
+ "integumental system",
+ "musculature",
+ "Localized skin lesion",
+ "pigmentation",
+ "ectoderm-derived structure",
+ "skin of body phenotype",
],
"has_phenotype_count": 36,
"highlight": None,
@@ -4675,8 +4509,13 @@ def autocomplete():
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0000104",
"HP:0001875",
+ "HP:0009777",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0000104",
"HP:0001017",
"HP:0001876",
"HP:0000028",
@@ -4684,23 +4523,18 @@ def autocomplete():
"HP:0001873",
"HP:0009778",
"HP:0001896",
- "HP:0009777",
"HP:0000568",
"HP:0001518",
"HP:0001263",
"HP:0003221",
- "HP:0000252",
- "HP:0001249",
"HP:0009943",
"HP:0000978",
"HP:0001627",
"HP:0000953",
"HP:0000957",
"HP:0001903",
- "HP:0000815",
"HP:0001909",
"HP:0000081",
- "HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
@@ -4709,8 +4543,13 @@ def autocomplete():
"HP:0000085",
],
"has_phenotype_label": [
- "Renal agenesis",
"Neutropenia",
+ "Absent thumb",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Renal agenesis",
"Anemic pallor",
"Pancytopenia",
"Cryptorchidism",
@@ -4718,23 +4557,18 @@ def autocomplete():
"Thrombocytopenia",
"Short thumb",
"Reticulocytopenia",
- "Absent thumb",
"Microphthalmia",
"Small for gestational age",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Intellectual disability",
"Complete duplication of thumb phalanx",
"Bruising susceptibility",
"Abnormal heart morphology",
"Hyperpigmentation of the skin",
"Cafe-au-lait spot",
"Anemia",
- "Hypergonadotropic hypogonadism",
"Leukemia",
"Duplicated collecting system",
- "Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
@@ -4744,1934 +4578,1888 @@ def autocomplete():
],
"has_phenotype_closure": [
"UPHENO:0041226",
+ "UPHENO:0041465",
"UPHENO:0041629",
- "UPHENO:0080300",
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
+ "UPHENO:0051124",
+ "GO:0046483",
"UPHENO:0050116",
- "UPHENO:0049671",
+ "UPHENO:0049586",
+ "UPHENO:0049964",
"GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
+ "GO:0006950",
+ "GO:0051716",
+ "HP:0003213",
+ "UPHENO:0050121",
+ "GO:0051319",
+ "GO:0007049",
+ "HP:0003214",
"UPHENO:0052160",
"UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
+ "GO:0007605",
+ "GO:0009987",
+ "HP:0000365",
+ "UPHENO:0005596",
"UBERON:0002105",
- "UPHENO:0005517",
+ "UPHENO:0041075",
+ "GO:0007600",
+ "UPHENO:0052159",
+ "UPHENO:0052970",
+ "UPHENO:0050625",
+ "UPHENO:0049699",
+ "UPHENO:0049703",
+ "GO:0006807",
"HP:0031704",
- "GO:0007605",
+ "UPHENO:0049989",
+ "UPHENO:0005512",
+ "GO:0050954",
+ "UPHENO:0005518",
"UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
"HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
+ "HP:0000708",
+ "NBO:0000444",
+ "UPHENO:0002219",
+ "NBO:0000338",
+ "UPHENO:0079828",
+ "GO:0007610",
+ "UPHENO:0002211",
+ "HP:0000496",
+ "HP:0011018",
+ "UBERON:0000015",
+ "UBERON:0010222",
+ "BFO:0000141",
+ "HP:0000486",
"UPHENO:0000543",
"HP:0001510",
"HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000081",
- "HP:0004742",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
"UPHENO:0075787",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "HP:0100542",
- "UPHENO:0053612",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001903",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0050008",
+ "UPHENO:0054970",
+ "GO:0043473",
+ "UPHENO:0050234",
"UPHENO:0080662",
- "UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004827",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
+ "UPHENO:0054957",
+ "UBERON:0000948",
+ "HP:0001627",
+ "HP:0030680",
+ "UPHENO:0050019",
+ "UBERON:0005181",
+ "UBERON:0005178",
"HP:0002597",
- "UPHENO:0004507",
- "UPHENO:0003086",
+ "HP:0001933",
+ "GO:0071704",
+ "MPATH:105",
+ "UPHENO:0002678",
+ "UBERON:0007798",
"MPATH:603",
- "UPHENO:0002576",
- "HP:0004377",
- "UBERON:0000948",
"MPATH:119",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
- "UBERON:5101463",
- "HP:0001933",
+ "GO:0006139",
+ "HP:0011354",
+ "UBERON:0000477",
+ "HP:0001626",
+ "UBERON:0001009",
+ "MPATH:0",
+ "HP:0001892",
+ "MPATH:1000",
"UBERON:0015063",
"UBERON:5106048",
+ "UBERON:5102389",
"UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
- "UBERON:0003620",
- "UBERON:0012358",
+ "UBERON:0011818",
+ "HP:0011314",
+ "UBERON:0015023",
+ "UBERON:0015024",
+ "UBERON:5101463",
+ "GO:0090304",
+ "UBERON:0012150",
+ "HP:0009942",
"HP:0009943",
- "GO:0050877",
- "HP:0001249",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0076702",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
- "UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
- "UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
- "UBERON:0001890",
- "UPHENO:0053610",
- "GO:0048523",
+ "UBERON:0003221",
+ "UBERON:0012357",
+ "GO:0005623",
+ "UPHENO:0049757",
+ "UPHENO:0049775",
+ "UPHENO:0050784",
+ "HP:0009602",
"UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "HP:0001939",
+ "NBO:0000313",
+ "GO:0010558",
+ "GO:0031327",
+ "UBERON:0000915",
+ "UPHENO:0050065",
"UPHENO:0049904",
+ "GO:0050794",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
+ "GO:0008152",
+ "GO:0051325",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0031323",
+ "UBERON:0004100",
+ "GO:0009892",
+ "UPHENO:0050025",
+ "UPHENO:0049622",
+ "UPHENO:0050435",
+ "UBERON:0000466",
+ "UPHENO:0049868",
+ "GO:0042592",
+ "UPHENO:0049743",
+ "UPHENO:0050063",
+ "UBERON:0002075",
+ "GO:0031049",
+ "GO:0031052",
"GO:0010556",
+ "GO:0031326",
"GO:0009890",
- "HP:0001000",
+ "HP:0011276",
+ "UBERON:0005897",
"GO:0010605",
"GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
+ "GO:0050789",
+ "HP:0003221",
+ "GO:0010629",
+ "UPHENO:0050040",
"UPHENO:0050778",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002433",
- "HP:0009142",
- "HP:0012758",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
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+ "UPHENO:0009295",
+ "HP:0003953",
+ "UPHENO:0026023",
+ "UPHENO:0011563",
+ "UPHENO:0002750",
+ "UPHENO:0026317",
+ "UPHENO:0086956",
+ "UPHENO:0009341",
+ "UPHENO:0079872",
+ "UBERON:0004535",
+ "HP:0009142",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0013702",
+ "UPHENO:0080187",
+ "UPHENO:0069254",
+ "UBERON:0000949",
+ "UBERON:0003466",
+ "HP:0040070",
+ "GO:0006725",
+ "UPHENO:0087501",
+ "HP:0004377",
+ "UPHENO:0008709",
+ "UPHENO:0002594",
+ "UPHENO:0086019",
+ "UPHENO:0026312",
],
"has_phenotype_closure_label": [
- "shape kidney",
- "concave 3-D shape anatomical entity",
+ "3-D shape anatomical entity",
"shape anatomical entity",
"Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "primary metabolic process",
- "cellular response to stimulus",
"response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
"interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
+ "ear",
"sensory perception",
- "Abnormality of the ear",
"decreased sensory perception",
- "cell cycle",
+ "decreased nervous system process",
"decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
"decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
"anatomical line",
- "ectoderm-derived structure physiology phenotype",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
"eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of eye movement",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
"size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Abnormal localization of kidney",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
"Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
"Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "glandular system",
+ "Leukemia",
+ "neoplasm phenotype",
+ "Localized skin lesion",
"Cafe-au-lait spot",
- "Hypermelanotic macule",
- "ear phenotype",
- "increased pigmentation",
- "Hyperpigmentation of the skin",
- "Abnormality of skin pigmentation",
+ "Macule",
+ "biological_process rate phenotype",
"increased qualitatively biological_process",
- "heart phenotype",
- "circulatory organ phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
+ "Hyperpigmentation of the skin",
"Abnormal heart morphology",
- "anatomical cluster",
- "Irregular hyperpigmentation",
- "circulatory system",
- "Abnormal bleeding",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "Abnormality of the cardiovascular system",
+ "anatomical cluster phenotype",
"Generalized abnormality of skin",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
+ "Vascular skin abnormality",
+ "vasculature",
+ "pigmentation",
+ "Abnormal finger phalanx morphology",
+ "Duplication of thumb phalanx",
"Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
"manual digit 1 phalanx",
- "phalanx of manus",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
"phalanx",
- "macromolecule metabolic process",
- "Intellectual disability",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
"regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
+ "regulation of biosynthetic process",
+ "pigmentation phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
"negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
"regulation of cellular biosynthetic process",
+ "DNA metabolic process",
"negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
+ "Chromosomal breakage induced by crosslinking agents",
"negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "Global developmental delay",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
"Neurodevelopmental delay",
- "nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "Neurodevelopmental abnormality",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
"multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
"camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
"Abnormality of the eye",
- "eye",
- "face",
+ "face phenotype",
"orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
+ "sense organ",
"Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
"eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "location of anatomical entity phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "All",
- "Cryptorchidism",
- "reproductive organ phenotype",
- "kidney",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "face phenotype",
- "localised male reproductive organ",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
"enucleated reticulocyte morphology phenotype",
- "aplasia or hypoplasia of manual digit",
- "absent radius endochondral element in the forelimb",
- "localised reproductive organ",
- "number of leukocyte phenotype",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "Abnormal myeloid cell morphology",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "appendage girdle complex",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "male reproductive organ phenotype",
- "reproductive structure",
- "erythroid lineage cell morphology phenotype",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "skin of body morphology phenotype",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "cell",
- "head morphology phenotype",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
+ "decreased length of digit 1",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of autopodial extension",
+ "decreased size of the material anatomical entity",
+ "Short thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of manual digit",
+ "decreased length of anatomical structure",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "decreased size of the anatomical entity",
+ "decreased length of organism subdivision",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of radius bone",
+ "forelimb zeugopod bone phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "absent forelimb zeugopod bone",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "absent bone element in the limb",
+ "forelimb zeugopod morphology phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent long bone",
+ "bone of pectoral complex morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "Abnormal forearm bone morphology",
+ "absent radius bone in the forelimb",
+ "bone of pectoral complex phenotype",
+ "limb long bone morphology phenotype",
+ "absent endochondral bone in the forelimb",
+ "absent limb endochondral element in the limb",
+ "delayed growth",
+ "arm bone phenotype",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "cellular process",
+ "long bone morphology phenotype",
+ "absent endochondral element",
+ "absent organ in the limb",
+ "Aplasia/Hypoplasia of the radius",
+ "vestibulo-auditory system",
+ "absent limb endochondral element",
+ "absent limb bone",
+ "forelimb bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "Absent forearm bone",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "absent bone element",
+ "Abnormal morphology of the radius",
+ "Reticulocytopenia",
+ "absent forelimb bone in the limb",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "forelimb long bone phenotype",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "radius bone phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "regulation of biosynthetic process phenotype",
"zeugopod",
- "Neutropenia",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "Pallor",
- "reproductive structure phenotype",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "number of anatomical enitites of type neutrophil phenotype",
- "tissue",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "hematopoietic system",
- "bone cell",
- "number of anatomical enitites of type kidney phenotype",
- "eukaryotic cell",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "nucleate cell",
- "bone marrow",
- "granulocyte",
- "cell phenotype",
- "decreased number of material anatomical entity",
- "Abnormal skeletal morphology",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormality of the male genitalia",
- "musculature of body",
- "absent multicellular anatomical structure in the limb",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "trunk",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "blood cell",
- "Abnormality of the immune system",
- "absent compound organ in the renal system",
- "Short stature",
- "radius bone",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nervous system physiology phenotype",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased functionality of the gonad",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "subdivision of head",
+ "absent mesoderm-derived structure in the forelimb",
+ "appendage girdle complex",
+ "digit phenotype",
+ "Renal hypoplasia/aplasia",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "kinesthetic behavior",
+ "Eumetazoa",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "Duplication of hand bones",
+ "nervous system process",
+ "skeletal element phenotype",
"appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "superficial fascia",
- "immune system",
- "Abnormal male external genitalia morphology",
- "disconnected anatomical group",
- "decreased number of neutrophil",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
"decreased size of the anatomical structure",
- "anatomical entity phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "growth",
- "subdivision of organism along appendicular axis phenotype",
+ "organ",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
"entity",
+ "manual digit 1 phalanx endochondral element",
+ "tissue",
+ "forelimb zeugopod bone morphology phenotype",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "acropodial skeleton",
"autopod region morphology phenotype",
- "localised anatomical structure",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "localised anatomical entity",
- "absent lateral structure in the renal system",
- "Abnormal limb bone morphology",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal cellular immune system morphology",
- "Abnormality of the vasculature",
- "gonad",
- "bone element",
- "pectoral appendage",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "testis",
- "long bone phenotype",
- "lateral structure",
- "multicellular organism",
- "trunk region element phenotype",
- "absent multicellular anatomical structure in the renal system",
- "serotonin secreting cell",
- "arm bone phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "absent forelimb long bone",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "ectoderm-derived structure",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased multicellular organismal process",
"root",
- "external genitalia phenotype",
- "renal system",
- "non-connected functional system",
- "gonad phenotype",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "motile cell",
- "decreased size of the digit",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "multicellular anatomical structure",
- "craniocervical region",
- "decreased length of organism subdivision",
- "number of anatomical enitites of type trunk region element phenotype",
- "organ phenotype",
- "skeleton",
- "genitourinary system phenotype",
- "Abnormal testis morphology",
- "postcranial axial skeleton",
- "organ system subdivision",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "organ",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "decreased number of anatomical entity",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
+ "localised testis",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
"anterior region of body",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "abdominal segment of trunk",
- "anatomical structure",
- "Growth abnormality",
- "skeletal system phenotype",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
+ "cardiovascular system",
+ "absent skeletal element",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
"organism subdivision phenotype",
- "cell cycle phenotype",
- "platelet",
- "multi-limb segment region phenotype",
+ "appendage phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "multi-limb segment region",
+ "manual digit plus metapodial segment",
+ "digit 1 plus metapodial segment",
+ "anatomical entity length phenotype",
+ "digit",
"digit 1 or 5 phenotype",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "absent lateral structure",
- "skull",
- "Short thumb",
- "Abnormality of the hand",
- "primary circulatory organ",
- "head phenotype",
- "localised organ",
- "anatomical entity",
- "Ectopic kidney",
- "decreased number of granulocyte",
+ "Abnormal digit morphology",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "limb",
+ "cell",
+ "absent anatomical entity in the renal system",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "absent skeletal element in the forelimb",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
"absent organism subdivision",
- "skin of body phenotype",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
+ "Neurodevelopmental abnormality",
+ "manus phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "axial skeleton plus cranial skeleton",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "absent mesoderm-derived structure",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "skeleton of manus",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "autopodial extension phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "G2 phase",
+ "nervous system phenotype",
+ "All",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "paired limb/fin segment phenotype",
+ "absent anatomical structure in the forelimb",
+ "acropodium region",
+ "Intellectual disability",
+ "bone marrow",
+ "Abnormality of the ear",
"absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent material anatomical entity in the renal system",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "absent kidney in the renal system",
- "number of anatomical enitites of type endochondral bone phenotype",
- "specifically dependent continuant",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "arm phenotype",
+ "hematopoietic system",
+ "agenesis of anatomical entity",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "absent kidney",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "arm",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "manual digit",
+ "limb bone morphology phenotype",
+ "Abnormal skeletal morphology",
+ "anatomical system",
+ "absent anatomical structure in the limb",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "decreased size of the sense organ",
+ "anatomical collection phenotype",
"quality",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "number of anatomical enitites of type anatomical structure phenotype",
- "face morphology phenotype",
- "subdivision of trunk",
- "endocrine system phenotype",
- "reproductive system",
- "absent forelimb long bone in the forelimb",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "musculature of body phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "upper urinary tract phenotype",
+ "decreased number of platelet",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased number of anatomical entity",
+ "Abnormal cellular phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
+ "musculature",
+ "regional part of brain",
+ "Abnormality of limbs",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "skeletal element",
+ "taxon specific phenotype",
+ "granulocyte morphology phenotype",
+ "biological phase",
+ "autopod bone",
"mesoderm-derived structure",
- "sensory perception of mechanical stimulus phenotype",
+ "cell phenotype",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "anatomical entity morphology phenotype",
+ "Abnormal localization of kidney",
+ "size of skull phenotype",
"digit 1",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "circulatory system",
+ "bone marrow cell",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "eye phenotype",
+ "Abnormal cellular immune system morphology",
+ "absent multicellular anatomical structure in the limb",
+ "endocrine system phenotype",
+ "multicellular organism morphology phenotype",
"skeletal system",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "number of anatomical enitites of type abdomen element phenotype",
- "Abnormal granulocyte count",
- "absent kidney",
- "forelimb morphology phenotype",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "number of myeloid cell phenotype",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "skeleton",
+ "Abnormal bleeding",
+ "immune system phenotype",
+ "decreased functionality of the organ",
+ "aplasia or hypoplasia of manual digit 1",
+ "reproductive system physiology phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "absent autopodial extension",
+ "hematopoietic system phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "skeleton of pectoral complex",
+ "eukaryotic cell",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "specifically dependent continuant",
+ "arm bone",
+ "Abnormal myeloid leukocyte morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "structure with developmental contribution from neural crest phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "immune system",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
+ "Prolonged G2 phase of cell cycle",
+ "pectoral appendage skeleton",
+ "Abnormality of skin pigmentation",
"phenotypic effect",
- "Abnormality of the genitourinary system",
- "Thrombocytopenia",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
- "Short finger",
+ "size of anatomical entity phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "organ physiology phenotype",
+ "Abnormal cell morphology",
"phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "main body axis",
- "vision/eye phenotype",
- "bone marrow cell",
- "Abnormality of the kidney",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "localised gonad",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "abdominal segment element phenotype",
- "subdivision of trunk phenotype",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "absent abdomen element in the renal system",
- "Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "cavitated compound organ",
+ "limb endochondral element",
+ "digit plus metapodial segment",
+ "skeletal system phenotype",
+ "absent anatomical entity",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "Complete duplication of phalanx of hand",
+ "limb bone",
+ "granulocyte",
+ "bone of appendage girdle complex phenotype",
"number of anatomical enitites of type lateral structure phenotype",
- "nervous system process phenotype",
+ "shape kidney",
+ "ectoderm-derived structure physiology phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
"neutrophil phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "upper limb segment phenotype",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "leukocyte",
- "material entity",
- "Abnormal granulocyte morphology",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "manual digit plus metapodial segment",
"external male genitalia",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "absent bone of free limb or fin",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent bone element in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "anatomical collection",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
+ "aplasia or hypoplasia of skeleton",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
+ "localised multicellular anatomical structure",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "absent bone of appendage girdle complex in the limb",
+ "number of cell phenotype",
+ "number of leukocyte phenotype",
+ "platelet",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
"manual digit phenotype",
- "trunk phenotype",
- "digit 1 digitopodial skeleton",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "DNA metabolic process phenotype",
+ "multi-limb segment region phenotype",
"hemolymphoid system",
- "absent cavitated compound organ in the renal system",
- "lateral structure phenotype",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
+ "decreased number of material anatomical entity",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "Abnormal nervous system physiology",
+ "Abnormality of the immune system",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical structure mass phenotype",
+ "multicellular organism",
+ "decreased functionality of the anatomical structure",
+ "Thrombocytopenia",
+ "leukocyte",
+ "increased biological_process in skin of body",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
"number of anatomical enitites of type compound organ phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
+ "cellular response to stimulus phenotype",
+ "absent bone element in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent anatomical entity in the forelimb",
+ "multicellular anatomical structure",
+ "primary metabolic process",
+ "Abnormality of the skin",
+ "forelimb endochondral element",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "cell cycle",
+ "pectoral complex",
+ "decreased size of the manual digit",
+ "trunk region element",
+ "absent limb long bone in the forelimb",
"Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "limb segment",
- "localised multicellular anatomical structure",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
+ "Microcephaly",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "decreased size of the autopodial extension",
"absent bone of pectoral complex in the limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "Abnormal finger phalanx morphology",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "absent bone of pectoral complex in the forelimb",
- "heart",
- "limb bone phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
+ "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "absent trunk region element in the renal system",
+ "continuant",
+ "paired limb/fin phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "musculature of body",
+ "camera-type eye phenotype",
+ "manus",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "integument phenotype",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "anatomical entity morphology in the manus phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "anatomical structure",
+ "localised trunk region element",
+ "absent lateral structure",
+ "Anemia",
+ "manus bone",
+ "Abnormality of the hand",
+ "radius bone",
+ "Subcutaneous hemorrhage",
"absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "negative regulation of metabolic process phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "limb segment",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "forelimb morphology phenotype",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "subdivision of organism along appendicular axis",
+ "absent anatomical structure in the multicellular organism",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "autopodial skeleton",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
+ "multicellular organism phenotype",
+ "external genitalia phenotype",
+ "system process",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "reproductive structure physiology phenotype",
+ "behavior phenotype",
+ "forelimb zeugopod bone",
+ "nervous system",
+ "renal system",
+ "endochondral bone phenotype",
+ "cognition",
+ "absent abdominal segment element",
+ "localised anatomical structure",
+ "simple eye phenotype",
"abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "decreased biological_process",
- "Absent radius",
- "skeletal element phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeleton",
- "absent anatomical structure in the skeletal system",
+ "absent anatomical structure",
+ "localised kidney",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent cavitated compound organ",
+ "Abnormal renal morphology",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "renal system phenotype",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "renal collecting system",
+ "immune system morphology phenotype",
+ "Ectopic kidney",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
+ "absent endochondral bone",
+ "localised organ",
+ "body proper",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
"Short digit",
- "oxygen accumulating cell",
- "absent bone of appendage girdle complex",
- "Decreased head circumference",
- "material anatomical entity",
- "absent bone of free limb or fin in the limb",
- "myeloid leukocyte",
- "autopodial extension phenotype",
- "regulation of biological process",
- "manual digit",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "forelimb",
- "digit 1 or 5",
- "decreased number of leukocyte",
- "long bone",
- "absent abdominal segment element",
- "endochondral bone",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "absent organ",
- "absent bone of appendage girdle complex in the limb",
- "absent forelimb zeugopod bone",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "absent radius bone in the forelimb",
- "external genitalia",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
+ "absent multicellular anatomical structure in the renal system",
+ "eye",
"compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "eye movement",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "pectoral appendage skeleton phenotype",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
+ "zeugopodial skeleton",
"limb long bone",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "absent compound organ",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "anucleate cell",
- "absent mesoderm-derived structure in the multicellular organism",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "decreased length of manual digit 1",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
"manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
+ "abdomen",
+ "compound organ phenotype",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormal granulocyte count",
+ "skin of body phenotype",
+ "Abnormality of the kidney",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "excretory system",
+ "subdivision of organism along main body axis",
+ "Abnormal conjugate eye movement",
"renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
+ "forelimb bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "upper urinary tract phenotype",
+ "integument",
+ "platelet phenotype",
+ "biological_process",
+ "genitourinary system phenotype",
"decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
"manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "Growth delay",
+ "kidney",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "organic substance metabolic process",
+ "heart",
+ "Abnormality of the head",
+ "limb long bone phenotype",
+ "multi-tissue structure",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "absent arm bone",
+ "reproductive organ",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "Abnormality of body weight",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased size of the multicellular organism",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "craniocervical region",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "subdivision of organism along main body axis phenotype",
+ "regulation of gene expression phenotype",
+ "system",
+ "brain morphology phenotype",
+ "forelimb skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "decreased length of manual digit 1 or 5",
+ "decreased functionality of the multicellular anatomical structure",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
+ "erythroid lineage cell",
+ "telencephalon",
+ "head phenotype",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Abnormal brain morphology",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "Abnormality of the genital system",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "myeloid leukocyte phenotype",
+ "forebrain",
+ "gonad physiology phenotype",
+ "nucleate cell",
+ "reproductive structure phenotype",
"multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1",
+ "limb endochondral element phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "absent arm bone in the forelimb",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "absent lateral structure in the renal system",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "gonad phenotype",
+ "immaterial entity",
+ "Abnormality of chromosome stability",
+ "anatomical entity dysfunction in independent continuant",
+ "Neutropenia",
+ "reproductive structure",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "neutrophil",
+ "absent abdomen element",
+ "decreased number of anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "number of anatomical enitites of type organ phenotype",
+ "Duplication of phalanx of hand",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent organ",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "biological regulation",
+ "Global developmental delay",
+ "abdominal segment of trunk",
+ "absent trunk region element",
+ "Renal agenesis",
+ "motile cell",
+ "absent abdominal segment element in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent organ in the renal system",
+ "digit morphology phenotype",
+ "absent abdomen element in the renal system",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "absent compound organ",
+ "oxygen accumulating cell",
+ "Abnormality of the integument",
+ "erythroid lineage cell morphology phenotype",
+ "sensory perception of mechanical stimulus",
+ "Abnormal upper limb bone morphology",
+ "skin of body",
+ "integumental system",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "Abnormal skin morphology",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "absent bone of appendage girdle complex",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "testis",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "testis phenotype",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "absent forelimb bone in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "forelimb long bone",
+ "serotonin secreting cell",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "radius endochondral element",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "Aplasia involving bones of the upper limbs",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "absent limb endochondral element in the forelimb",
+ "regulation of biological process phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "absent anatomical structure in the skeletal system",
],
"has_phenotype_count": 32,
"highlight": None,
@@ -6767,35 +6555,48 @@ def autocomplete():
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0100867",
- "HP:0100760",
+ "HP:0000047",
+ "HP:0002575",
+ "HP:0000483",
+ "HP:0000238",
+ "HP:0001249",
+ "HP:0001000",
"HP:0100587",
- "HP:0100542",
"HP:0100026",
"HP:0040071",
+ "HP:0006824",
+ "HP:0005344",
+ "HP:0002414",
+ "HP:0000582",
+ "HP:0000518",
+ "HP:0000508",
+ "HP:0000252",
+ "HP:0010469",
+ "HP:0000377",
+ "HP:0002119",
+ "HP:0001392",
+ "HP:0000864",
+ "HP:0000316",
+ "HP:0000027",
+ "HP:0002863",
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100542",
"HP:0012639",
"HP:0012041",
- "HP:0010469",
"HP:0010293",
"HP:0008678",
- "HP:0000377",
"HP:0008053",
"HP:0007565",
- "HP:0006824",
"HP:0006265",
"HP:0006101",
- "HP:0005344",
"HP:0004349",
"HP:0004209",
"HP:0003022",
- "HP:0002863",
"HP:0002827",
"HP:0002823",
- "HP:0002575",
- "HP:0002414",
"HP:0002251",
"HP:0002245",
- "HP:0002119",
"HP:0002023",
"HP:0002007",
"HP:0001824",
@@ -6812,22 +6613,16 @@ def autocomplete():
"HP:0001537",
"HP:0001511",
"HP:0001510",
- "HP:0001392",
"HP:0001347",
"HP:0001199",
- "HP:0000864",
"HP:0000813",
"HP:0000639",
- "HP:0000582",
"HP:0000568",
"HP:0000520",
- "HP:0000518",
- "HP:0000508",
"HP:0000505",
"HP:0000504",
"HP:0000492",
"HP:0000486",
- "HP:0000483",
"HP:0000478",
"HP:0000453",
"HP:0000365",
@@ -6835,20 +6630,16 @@ def autocomplete():
"HP:0000347",
"HP:0000340",
"HP:0000324",
- "HP:0000316",
"HP:0000286",
"HP:0000268",
- "HP:0000238",
"HP:0000218",
"HP:0000175",
"HP:0000135",
"HP:0000130",
"HP:0000083",
"HP:0000072",
- "HP:0000047",
"HP:0000035",
"HP:0000028",
- "HP:0000027",
"HP:0000010",
"HP:0012745",
"HP:0012210",
@@ -6857,8 +6648,6 @@ def autocomplete():
"HP:0002650",
"HP:0001671",
"HP:0001263",
- "HP:0001249",
- "HP:0000252",
"HP:0000079",
"HP:0007400",
"HP:0006501",
@@ -6872,38 +6661,50 @@ def autocomplete():
"HP:0001871",
"HP:0001172",
"HP:0001053",
- "HP:0001000",
],
"has_phenotype_label": [
- "Duodenal stenosis",
- "Clubbing of toes",
+ "Hypospadias",
+ "Tracheoesophageal fistula",
+ "Astigmatism",
+ "Hydrocephalus",
+ "Intellectual disability",
+ "Abnormality of skin pigmentation",
"Abnormal preputium morphology",
- "Abnormal localization of kidney",
"Arteriovenous malformation",
"Abnormal morphology of ulna",
+ "Cranial nerve paralysis",
+ "Abnormal carotid artery morphology",
+ "Spina bifida",
+ "Upslanted palpebral fissure",
+ "Cataract",
+ "Ptosis",
+ "Microcephaly",
+ "Absent testis",
+ "Abnormal pinna morphology",
+ "Ventriculomegaly",
+ "Abnormality of the liver",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Hypertelorism",
+ "Azoospermia",
+ "Myelodysplasia",
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal localization of kidney",
"Abnormal nervous system morphology",
"Decreased fertility in males",
- "Absent testis",
"Aplasia/Hypoplasia of the uvula",
"Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
"Aplasia/Hypoplasia of the iris",
"Multiple cafe-au-lait spots",
- "Cranial nerve paralysis",
"Aplasia/Hypoplasia of fingers",
"Finger syndactyly",
- "Abnormal carotid artery morphology",
"Reduced bone mineral density",
"Clinodactyly of the 5th finger",
"Hypoplasia of the ulna",
- "Myelodysplasia",
"Hip dislocation",
"Abnormal femur morphology",
- "Tracheoesophageal fistula",
- "Spina bifida",
"Aganglionic megacolon",
"Meckel diverticulum",
- "Ventriculomegaly",
"Anal atresia",
"Frontal bossing",
"Weight loss",
@@ -6920,22 +6721,16 @@ def autocomplete():
"Umbilical hernia",
"Intrauterine growth retardation",
"Growth delay",
- "Abnormality of the liver",
"Hyperreflexia",
"Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
"Bicornuate uterus",
"Nystagmus",
- "Upslanted palpebral fissure",
"Microphthalmia",
"Proptosis",
- "Cataract",
- "Ptosis",
"Visual impairment",
"Abnormality of vision",
"Abnormal eyelid morphology",
"Strabismus",
- "Astigmatism",
"Abnormality of the eye",
"Choanal atresia",
"Hearing impairment",
@@ -6943,20 +6738,16 @@ def autocomplete():
"Micrognathia",
"Sloping forehead",
"Facial asymmetry",
- "Hypertelorism",
"Epicanthus",
"Dolichocephaly",
- "Hydrocephalus",
"High palate",
"Cleft palate",
"Hypogonadism",
"Abnormality of the uterus",
"Renal insufficiency",
"Hydroureter",
- "Hypospadias",
"Abnormal testis morphology",
"Cryptorchidism",
- "Azoospermia",
"Recurrent urinary tract infections",
"Short palpebral fissure",
"Abnormal renal morphology",
@@ -6965,8 +6756,6 @@ def autocomplete():
"Scoliosis",
"Abnormal cardiac septum morphology",
"Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
"Abnormality of the urinary system",
"Irregular hyperpigmentation",
"Aplasia/Hypoplasia of the radius",
@@ -6980,10542 +6769,10047 @@ def autocomplete():
"Abnormality of blood and blood-forming tissues",
"Abnormal thumb morphology",
"Hypopigmented skin patches",
- "Abnormality of skin pigmentation",
],
"has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
- "UPHENO:0077889",
+ "HP:0001010",
+ "HP:0001873",
+ "UPHENO:0080010",
+ "CL:0000457",
"UPHENO:0077373",
- "UPHENO:0077391",
- "HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
+ "CL:0000233",
+ "CL:0000458",
+ "UPHENO:0085344",
+ "HP:0011875",
+ "UPHENO:0086173",
+ "HP:0011893",
"CL:0000738",
+ "UPHENO:0088166",
+ "UPHENO:0035160",
+ "UPHENO:0088319",
+ "UPHENO:0076675",
+ "UBERON:0000179",
"CL:0000255",
- "HP:0001881",
- "UPHENO:0063722",
+ "CL:0000219",
+ "UBERON:0000178",
+ "UPHENO:0077348",
"UPHENO:0085410",
- "UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
+ "UPHENO:0049904",
+ "GO:0008152",
"HP:0003220",
- "HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
"HP:0000002",
+ "UPHENO:0080351",
"UPHENO:0075159",
- "HP:0004322",
- "GO:0034101",
- "HP:0001877",
- "HP:0001903",
- "GO:0030218",
+ "HP:0010972",
+ "GO:0030099",
+ "GO:0030097",
+ "CL:0000988",
+ "GO:0048872",
+ "GO:0042592",
+ "GO:0002376",
+ "GO:0009987",
+ "HP:0001877",
+ "CL:0000232",
+ "HP:0005522",
+ "GO:0048871",
+ "GO:0048869",
+ "UPHENO:0088170",
"CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
"CL:0001035",
- "GO:0042592",
+ "GO:0030218",
+ "UPHENO:0088162",
"HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
- "UPHENO:0080187",
- "HP:0002818",
"UBERON:0015001",
- "UPHENO:0087510",
- "UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
- "HP:0001249",
+ "UPHENO:0080187",
+ "HP:0002650",
"HP:0200005",
- "UPHENO:0075944",
"UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
+ "UPHENO:0069119",
"UPHENO:0046755",
+ "UPHENO:0075198",
"UPHENO:0069562",
- "UBERON:0002405",
+ "HP:0000010",
+ "UPHENO:0002263",
"UPHENO:0002948",
- "UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
- "UPHENO:0052965",
- "UPHENO:0086172",
- "UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
- "UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
- "UPHENO:0078452",
- "UPHENO:0053563",
"UPHENO:0053561",
- "UPHENO:0053571",
+ "CL:0000329",
+ "UPHENO:0053632",
+ "UPHENO:0002940",
+ "UPHENO:0053647",
+ "UPHENO:0053644",
"UPHENO:0053572",
- "UPHENO:0075933",
- "UBERON:0010418",
- "UBERON:0001333",
+ "HP:0000028",
+ "UPHENO:0053559",
"UBERON:0000056",
- "UBERON:0036295",
- "UPHENO:0002806",
- "UBERON:0006555",
"UPHENO:0002636",
- "UPHENO:0076780",
+ "UBERON:0036295",
"HP:0000072",
+ "UBERON:0006555",
+ "UPHENO:0003101",
+ "HP:0025633",
+ "UPHENO:0002859",
"UPHENO:0002426",
- "HP:0011277",
"UPHENO:0002377",
+ "UPHENO:0002427",
+ "UPHENO:0002442",
+ "UPHENO:0002411",
"HP:0012211",
+ "UPHENO:0002422",
+ "HP:0000135",
"UPHENO:0003056",
- "HP:0002719",
+ "UPHENO:0002381",
"UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
- "HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
+ "UPHENO:0066945",
+ "UPHENO:0033589",
+ "UPHENO:0002806",
"UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
- "UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
+ "HP:5201015",
+ "UPHENO:0077399",
+ "UPHENO:0001392",
"HP:0000218",
- "GO:0008152",
- "UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
"UPHENO:0063518",
- "UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
- "UPHENO:0014761",
- "UPHENO:0014240",
- "HP:0010987",
- "UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
- "HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
+ "UPHENO:0063524",
+ "UPHENO:0081423",
+ "UPHENO:0063529",
+ "UPHENO:0063519",
+ "HP:0000268",
+ "UPHENO:0072402",
+ "UPHENO:0072332",
+ "UPHENO:0087058",
+ "UBERON:1000021",
"UPHENO:0087928",
"UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
- "UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
"UBERON:0013766",
+ "UPHENO:0072293",
"UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
- "UPHENO:0072332",
- "UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
- "UPHENO:0072195",
- "CL:0002092",
"UPHENO:0084734",
"HP:0001999",
- "UPHENO:0084729",
"HP:0000324",
- "HP:0000340",
+ "HP:0001263",
"UPHENO:0005982",
+ "UPHENO:0041151",
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- "glans",
- "urethra",
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+ "has_phenotype_closure_label": [
+ "decreased biological_process in multicellular organism",
+ "Hypopigmentation of the skin",
+ "Abnormal platelet morphology",
+ "Thrombocytopenia",
+ "Abnormal platelet count",
+ "decreased number of platelet",
+ "number of platelet phenotype",
+ "serotonin secreting cell",
+ "anucleate cell",
"Abnormality of thrombocytes",
- "urethral opening",
- "Abnormal ureter morphology",
- "Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
- "Abnormality of the urinary system physiology",
- "abdominal segment element physiology phenotype",
- "kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
- "incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
- "increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormal immune system morphology",
+ "Abnormal cellular immune system morphology",
+ "decreased number of hematopoietic cell",
+ "leukocyte",
+ "decreased number of anatomical structure in the multicellular organism",
+ "decreased number of leukocyte in the blood",
+ "decreased number of anatomical structure",
+ "Leukopenia",
+ "nucleate cell",
+ "motile cell",
+ "decreased number of anatomical entity in the blood",
+ "Abnormality of chromosome stability",
+ "Abnormal cellular physiology",
+ "decreased height of the multicellular organism",
+ "decreased size of the multicellular organism",
+ "size of multicellular organism phenotype",
+ "cellular developmental process",
+ "decreased number of anatomical entity in the multicellular organism",
+ "blood cell",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "Abnormal bone marrow cell morphology",
+ "Sideroblastic anemia",
+ "homeostatic process",
+ "immune system process",
+ "cellular process",
"erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
+ "Abnormal erythroid lineage cell morphology",
+ "cell development",
+ "Abnormal myeloid cell morphology",
+ "Anemia of inadequate production",
+ "hemopoiesis",
+ "erythroid lineage cell",
+ "homeostasis of number of cells",
+ "erythrocyte homeostasis",
+ "bone cell",
+ "aplasia or hypoplasia of radius bone",
+ "Abnormal morphology of the radius",
+ "radius bone phenotype",
+ "radius bone morphology phenotype",
+ "Neurodevelopmental delay",
+ "shape palpebral fissure",
+ "Abnormal shape of the palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "decreased size of the orifice",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the palpebral fissure",
+ "decreased length of orifice",
+ "decreased length of anatomical conduit",
+ "immune system physiology phenotype",
+ "Unusual infection",
+ "localised male reproductive organ",
+ "localised organ",
+ "Cryptorchidism",
+ "localised anatomical structure",
+ "ureter",
+ "excretory tube phenotype",
+ "Abnormal ureter morphology",
+ "Abnormality of the ureter",
+ "Hypopigmented skin patches",
+ "Abnormality of the urinary system physiology",
+ "cavitated compound organ physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "gonad physiology phenotype",
+ "decreased functionality of the gonad",
+ "decreased functionality of the reproductive structure",
+ "Cleft palate",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "Craniofacial cleft",
+ "incomplete closing of the multi-tissue structure",
+ "increased size of the structure with developmental contribution from neural crest",
+ "anatomical entity height phenotype",
+ "increased height of the anatomical structure",
+ "High palate",
+ "increased height of the material anatomical entity",
+ "increased height of the roof of mouth",
+ "increased height of the anatomical entity",
+ "immune system morphology phenotype",
+ "increased height of the multicellular anatomical structure",
+ "increased height of the ectoderm-derived structure",
+ "increased size of the neural crest-derived structure",
+ "increased height of the multi-tissue structure",
+ "number of leukocyte phenotype",
+ "increased length of the ectoderm-derived structure",
+ "increased length of the organ part",
+ "increased length of the epicanthal fold",
"Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
+ "upper eyelid",
"skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
+ "head or neck skin",
+ "skin of face",
"zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
+ "increased size of the zone of organ",
+ "skin of head",
"asymmetry of anatomical entity phenotype",
+ "Abnormal leukocyte count",
"Facial asymmetry",
"asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
+ "Sloping forehead",
"forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
+ "sloped anatomical entity",
"lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
+ "dermal bone phenotype",
+ "increased height of the structure with developmental contribution from neural crest",
+ "intramembranous bone phenotype",
+ "bone element hypoplasia in face",
+ "secretory cell",
+ "bone of lower jaw phenotype",
+ "mandible morphology phenotype",
+ "mandible",
"dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
+ "facial bone hypoplasia",
+ "bone of lower jaw",
"anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
+ "skin of eyelid",
"Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
+ "mandible hypoplasia",
+ "sensory perception of sound",
"decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
+ "sloped forehead",
"sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "Hearing abnormality",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased system process",
+ "Hearing impairment",
+ "nose phenotype",
+ "naris",
+ "olfactory organ",
+ "compound organ physiology phenotype",
"posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
"naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
+ "posterior nasal aperture",
"Abnormal conjugate eye movement",
"Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
"visual perception",
- "Abnormality of vision",
+ "sensory perception of light stimulus",
"decreased qualitatively system process",
- "visual perception phenotype",
"decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
+ "sensory perception phenotype",
+ "decreased qualitatively nervous system process",
+ "Abnormality of globe size",
+ "sensory perception of light stimulus phenotype",
"size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
+ "decreased size of the ectoderm-derived structure",
+ "internal ear physiology phenotype",
"eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
+ "vestibulo-ocular reflex phenotype",
"Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
+ "Abnormality of eye movement",
+ "multi organ part structure physiology phenotype",
+ "Abnormal vestibular function",
+ "Aplasia/Hypoplasia of facial bones",
"bicornuate uterus",
- "female reproductive organ",
+ "female organism",
+ "internal female genitalia morphology phenotype",
+ "decreased functionality of the organ",
+ "oviduct",
"uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
+ "bicornuate anatomical entity",
+ "shape uterus",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the uterus",
+ "subdivision of oviduct phenotype",
+ "internal female genitalia",
+ "Abnormal finger phalanx morphology",
+ "Triphalangeal thumb",
+ "manual digitopodium bone",
+ "digit 1",
"manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
+ "decreased sensory perception",
"manual digit bone",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
"manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
+ "ureter morphology phenotype",
+ "skeleton of manual acropodium",
+ "skeleton of manual digitopodium",
+ "Abnormality of the immune system",
+ "manual digit phalanx endochondral element",
+ "facial bone phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "manus bone",
+ "excretory tube",
+ "manual digit 1 phalanx endochondral element",
"phalanx of manus",
"manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
"neuromuscular process",
+ "kinesthetic behavior",
"voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
+ "voluntary movement behavior phenotype",
+ "system process phenotype",
+ "reflex phenotype",
+ "increased response to stimulus",
+ "Recurrent urinary tract infections",
+ "involuntary movement behavior",
"response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
+ "reflex",
+ "increased qualitatively response to stimulus",
+ "Global developmental delay",
+ "reflexive behavior",
+ "behavior phenotype",
+ "Hyperreflexia",
+ "multicellular organismal movement phenotype",
"decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
+ "decreased qualitatively multicellular organismal process",
"anatomical structure development phenotype",
- "decreased qualitatively biological_process",
+ "multicellular organismal process phenotype",
"Growth delay",
- "Intrauterine growth retardation",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
+ "delayed growth",
+ "embryo development rate phenotype",
+ "embryo development phenotype",
+ "Abnormality of vision",
+ "anatomical wall phenotype",
+ "Hernia",
"Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
+ "digit 1 digitopodial skeleton",
+ "tissue phenotype",
"herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
+ "connective tissue",
+ "erythrocyte morphology phenotype",
+ "umbilicus",
+ "abdominal wall phenotype",
"herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
+ "facial skeleton",
+ "abdominal viscera",
+ "incomplete closing of the organ part",
+ "embryo phenotype",
"organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
+ "Renal insufficiency",
"late embryo",
- "bone of jaw phenotype",
+ "Abnormality of prenatal development or birth",
+ "uterus phenotype",
"Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
+ "response to external stimulus",
+ "Abnormality of the amniotic fluid",
+ "embryonic development/birth phenotype",
"cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
+ "metabolic process",
+ "Abnormal cardiac septum morphology",
+ "interatrial septum",
"Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
+ "cardiac septum",
"increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
+ "incomplete closing of the interventricular septum",
+ "Abnormality of thumb phalanx",
"increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
+ "cardiac septum morphology phenotype",
+ "right cardiac chamber phenotype",
+ "cardiac septum phenotype",
+ "increased size of the lateral structure",
"size of cardiac ventricle phenotype",
+ "interventricular septum morphology phenotype",
+ "heart right ventricle morphology phenotype",
+ "cardiac ventricle phenotype",
"septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
+ "incomplete closing of the cardiac septum",
+ "cardiac chamber morphology in the heart phenotype",
+ "hypertrophic cardiac ventricle",
+ "cardiac chamber phenotype",
+ "septum",
+ "increased size of the cardiac chamber",
+ "incomplete closing of the septum",
+ "Intrauterine growth retardation",
"decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
"mesoderm-derived structure physiology phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "decreased nervous system process",
+ "decreased functionality of the organ component layer",
+ "Abnormality of the abdominal wall",
+ "organ component layer physiology phenotype",
+ "heart layer phenotype",
"layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
+ "Abnormal choanae morphology",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "Hypertrophic cardiomyopathy",
+ "Abnormal myocardium morphology",
+ "decreased multicellular organism development",
+ "heart layer",
+ "decreased functionality of the anatomical entity",
+ "decreased multicellular organismal process",
+ "incomplete closing of the trunk blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "systemic artery phenotype",
+ "blood vessel phenotype",
+ "nervous system process phenotype",
+ "incomplete closing of the coronary vessel",
+ "coronary vessel morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "incomplete closing of the heart blood vessel",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "aplasia or hypoplasia of mandible",
+ "trunk blood vessel",
+ "trunk blood vessel phenotype",
"vasculature of organ",
"vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
"heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "sensory perception of sound phenotype",
+ "response to stimulus",
+ "ductus arteriosus",
+ "incomplete closing of the artery",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "myeloid cell",
+ "incomplete closing of the blood vessel",
+ "anatomical entity morphology in the heart phenotype",
+ "Patent ductus arteriosus",
+ "anatomical structure morphology in the heart phenotype",
+ "hematopoietic cell",
"semi-lunar valve",
- "outflow tract of ventricle",
+ "neuromuscular process phenotype",
+ "heart",
+ "aortic valve morphology phenotype",
+ "platelet phenotype",
+ "Abnormal heart morphology",
+ "Abnormal heart valve morphology",
"semi-lunar valve morphology phenotype",
"heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
+ "internal ear",
+ "heart left ventricle",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "outflow part of left ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "cardiac valve",
+ "bone of jaw",
"aortic system",
- "aorta phenotype",
- "mandible",
+ "aortic valve",
+ "thoracic cavity blood vessel",
+ "great vessel of heart",
+ "Abnormal aortic morphology",
"aorta morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "great vessel of heart morphology phenotype",
"aorta",
- "great vessel of heart",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "longitudinal arch of pes",
+ "Pes planus",
"flat anatomical entity",
+ "flattened anatomical entity",
"shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
+ "trunk region element physiology phenotype",
+ "Toe syndactyly",
"fused anatomical entity and pedal digit",
+ "incomplete closing of the anatomical wall",
+ "pedal digit phenotype",
"anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
+ "platelet",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
"growth",
- "anatomical entity mass phenotype",
+ "radius bone",
+ "growth phenotype",
"Weight loss",
- "developmental process rate phenotype",
+ "obsolete cell",
+ "material anatomical entity mass phenotype",
+ "Decreased body weight",
"Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "anatomical structure mass phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal calvaria morphology",
+ "frontal cortex morphology phenotype",
+ "neurocranium morphology phenotype",
+ "olfactory system morphology phenotype",
+ "cranium morphology phenotype",
+ "Puberty and gonadal disorders",
+ "central nervous system cell part cluster",
+ "hypertrophic multicellular anatomical structure",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "shape of frontal cortex phenotype",
+ "primary subdivision of skull",
+ "cranium",
+ "frontal cortex",
+ "gray matter",
+ "dermal bone",
+ "aplasia or hypoplasia of skull",
+ "frontal lobe",
+ "pallium",
+ "prominent forehead",
+ "brain gray matter phenotype",
+ "forehead",
+ "tetrapod frontal bone",
"neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
+ "gray matter of forebrain phenotype",
+ "decreased number of cell",
+ "gray matter phenotype",
+ "cortex of cerebral lobe",
+ "primary subdivision of cranial skeletal system",
+ "vault of skull",
+ "cardiovascular system physiology phenotype",
+ "prominent anatomical entity",
+ "neurocranium",
+ "bone of craniocervical region",
+ "cranial bone",
+ "intramembranous bone",
+ "membrane bone",
"heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
+ "gray matter of forebrain",
"anus",
- "membrane bone",
- "zeugopodial skeleton",
+ "closing of the multicellular anatomical structure",
+ "material anatomical entity atresia",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "closing of the anatomical structure",
+ "anus morphology phenotype",
+ "bone marrow",
+ "anus atresia",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "Abnormal ileum morphology",
+ "parasympathetic nervous system",
+ "large intestine morphology phenotype",
+ "autonomic nervous system",
+ "Abnormal peripheral nervous system ganglion morphology",
+ "Abnormal autonomic nervous system morphology",
+ "ganglion of peripheral nervous system",
+ "Abnormal large intestine morphology",
+ "interatrial septum morphology phenotype",
+ "Abnormality of the autonomic nervous system",
+ "haemolymphatic fluid",
+ "ganglion morphology phenotype",
+ "enteric nervous system",
+ "Aganglionic megacolon",
+ "enteric ganglion",
+ "Megacolon",
+ "lower digestive tract",
+ "Abnormal ganglion morphology",
+ "stylopod",
+ "late embryo phenotype",
+ "valve",
+ "Abnormal femur morphology",
+ "decreased qualitatively pigmentation",
+ "increased length of the head or neck skin",
"innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
+ "hip joint morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "protruding anatomical entity",
+ "Abnormal pelvic girdle bone morphology",
+ "pelvic region of trunk",
"hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
+ "appendage girdle region",
+ "girdle skeleton",
+ "trunk bone",
+ "Lower extremity joint dislocation",
+ "Abnormal hip bone morphology",
+ "skeletal joint morphology phenotype",
+ "heart layer morphology phenotype",
+ "hip dislocation",
+ "skeletal joint phenotype",
+ "synovial joint morphology phenotype",
+ "girdle bone/zone",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "Hip dislocation",
+ "outflow part of left ventricle morphology phenotype",
+ "vertebral column",
+ "tube closure phenotype",
+ "ileum",
+ "embryonic tissue",
+ "forehead phenotype",
+ "neural tube closure",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "Vertebral arch anomaly",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "decreased pigmentation in multicellular organism",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
"anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
+ "Abnormal ear physiology",
"ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
+ "Abnormality of the vasculature",
+ "incomplete closing of the anatomical entity",
+ "postcranial axial skeleton",
+ "localised multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis",
+ "tube formation",
"eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "tissue morphogenesis",
+ "incomplete closing of the vessel",
+ "presumptive structure",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "entire sense organ system",
+ "formed organ part",
+ "bony vertebral centrum",
+ "cranial neuron projection bundle",
+ "Clubbing",
+ "head bone",
+ "shape digit",
+ "peripheral nervous system morphology phenotype",
+ "Abnormal spinal cord morphology",
+ "nerve phenotype",
+ "developmental process",
+ "increased size of the heart right ventricle",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "abdominal segment bone",
+ "Cranial nerve paralysis",
+ "increased number of multicellular anatomical structure",
+ "Spinal dysraphism",
+ "Frontal bossing",
+ "nerve",
+ "esophagus morphology phenotype",
+ "cranial nerve",
+ "internal naris atresia",
+ "musculature of body",
+ "nerve of head region",
+ "phenotype",
+ "anatomical space",
+ "pelvic appendage",
+ "body part movement",
+ "cranial nerve phenotype",
+ "artery phenotype",
+ "autopodial extension",
+ "Abnormal cranial nerve physiology",
+ "appendage girdle complex",
"Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
+ "reproductive process",
+ "kidney phenotype",
+ "limb morphology phenotype",
+ "cognition",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
"nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
+ "decreased functionality of the myocardium",
+ "limb bone phenotype",
+ "face",
+ "multicellular anatomical structure mass phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "bone of pectoral complex morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "vertebral column phenotype",
+ "Hernia of the abdominal wall",
+ "autopodial extension phenotype",
+ "Abnormal forearm bone morphology",
+ "forelimb zeugopod morphology phenotype",
+ "limb skeleton subdivision",
+ "femur",
+ "skull",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "vault of skull phenotype",
+ "epithelium development",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Abnormal peripheral nervous system morphology",
+ "arm bone phenotype",
+ "olfactory organ phenotype",
+ "multi-limb segment region phenotype",
+ "Nystagmus",
+ "esophagus",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "endochondral element phenotype",
+ "forelimb bone phenotype",
+ "bone element",
+ "decreased reproductive process",
"skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
+ "zeugopod",
+ "system development",
+ "pectoral appendage",
+ "deviation of manual digit 5 towards the middle",
+ "bony vertebral centrum morphology phenotype",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "olfactory system",
+ "Neoplasm by anatomical site",
+ "limb",
+ "increased size of the material anatomical entity",
+ "respiratory system",
+ "hip joint",
+ "Small intestinal stenosis",
+ "flat longitudinal arch of pes",
+ "neuron projection bundle phenotype",
+ "Abnormal morphology of ulna",
+ "multicellular organismal reproductive process",
+ "Abnormality of the musculoskeletal system",
+ "Microcephaly",
+ "pectoral appendage skeleton",
+ "alimentary part of gastrointestinal system phenotype",
+ "ulna endochondral element",
+ "localised gonad",
+ "paired limb/fin",
+ "incomplete closing of the skeletal element",
+ "absent sperm",
+ "subdivision of skeleton",
+ "shape of forehead phenotype",
+ "endochondral bone",
"decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
+ "Abnormal forebrain morphology",
+ "Abnormal forearm morphology",
"vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "vertebral element",
+ "pelvic region element phenotype",
+ "viscus",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "bone of free limb or fin",
+ "arch of centrum of vertebra phenotype",
+ "limb endochondral element",
+ "neural tube formation",
+ "neuron projection bundle",
+ "digestive system gland phenotype",
+ "increased length of the skin of eyelid",
+ "internal male genitalia phenotype",
"Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
+ "paired limb/fin phenotype",
+ "Abnormal internal genitalia",
+ "localised testis",
+ "decreased qualitatively sensory perception of light stimulus",
+ "forelimb morphology phenotype",
+ "Myelodysplasia",
+ "Abnormal blood vessel morphology",
+ "parasympathetic ganglion",
+ "formed ectoderm-derived structure",
+ "decreased size of the arm bone",
+ "cardiovascular system phenotype",
+ "anatomical cluster phenotype",
+ "blood",
+ "Abnormal morphology of female internal genitalia",
+ "anatomical cluster",
+ "Functional abnormality of male internal genitalia",
+ "acropodium region",
+ "coronary vessel",
+ "cranial nerve physiology phenotype",
+ "ventricle of nervous system",
+ "paralysed anatomical entity",
+ "multi-limb segment region",
+ "blood vessel",
+ "compound organ",
+ "eye",
+ "venous system",
+ "outflow tract",
+ "germ cell",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "upper urinary tract phenotype",
+ "Abnormal jaw morphology",
+ "Meckel diverticulum",
+ "irregular bone",
+ "organism",
+ "secondary palate",
+ "male reproductive organ morphology phenotype",
+ "skeleton of digitopodium",
+ "myeloid cell homeostasis",
+ "glans penis",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "Abnormal preputium morphology",
+ "penis morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "mouth phenotype",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
"cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
+ "leg bone",
+ "Abnormal skin morphology",
+ "multi-tissue structure phenotype",
"opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
+ "decreased anatomical structure mass",
+ "forelimb zeugopod bone phenotype",
+ "pigmentation",
+ "developing anatomical structure",
+ "skeleton of limb",
+ "Abnormality of skin pigmentation",
+ "female reproductive system",
+ "dermal skeleton",
+ "phenotypic effect",
+ "aplasia or hypoplasia of iris",
+ "pigmentation phenotype",
+ "heart left ventricle morphology phenotype",
"individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
+ "Umbilical hernia",
+ "Arteriovenous malformation",
+ "increased size of the multi-tissue structure",
+ "head bone morphology phenotype",
+ "Abnormal eye morphology",
+ "incomplete closing of the secondary palate",
+ "increased length of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "integument",
+ "Abnormal connection of the cardiac segments",
+ "leg phenotype",
+ "cardiac atrium",
+ "Abnormality of the integument",
+ "genitourinary system phenotype",
+ "Abnormality of the forehead",
"mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
+ "multicellular organismal process",
+ "bone of pelvic complex",
+ "system process",
+ "sensory perception",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "process",
+ "Abnormal shape of the frontal region",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "autopod endochondral element",
"shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
+ "mandible phenotype",
+ "autonomic ganglion",
+ "axial skeletal system",
+ "brain",
+ "ventricular system of central nervous system",
+ "neural crest-derived structure, curved phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "musculature phenotype",
+ "reproductive system physiology phenotype",
+ "myeloid cell differentiation",
+ "increased number of organ part",
+ "decreased biological_process in skin of body",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "decreased length of forelimb zeugopod bone",
+ "digit 1 plus metapodial segment",
+ "Abnormality of the anus",
+ "cerebrospinal fluid morphology phenotype",
+ "synovial joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "facial bone",
+ "increased number of brain ventricle",
+ "Recurrent infections",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "size of heart right ventricle phenotype",
+ "Abnormality of the urinary system",
+ "incomplete closing of the neural crest-derived structure",
+ "Abnormal cerebrospinal fluid morphology",
+ "external soft tissue zone",
+ "Abnormal mandible morphology",
+ "skeletal system phenotype",
+ "male gamete generation phenotype",
"digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
+ "head",
+ "internal genitalia phenotype",
"bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
+ "Abnormal esophagus morphology",
+ "increased number of anatomical structure in the cerebrospinal fluid",
"organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
+ "multicellular organismal-level homeostasis",
+ "chordate embryonic development",
+ "anterior segment of eyeball",
+ "Abnormal morphology of the great vessels",
+ "pectoral complex",
+ "Abnormality of the peripheral nervous system",
+ "trunk region element",
+ "endoderm-derived structure",
+ "lateral structure",
+ "Orofacial cleft",
+ "digestive system element",
+ "Abnormal digestive system morphology",
+ "Tracheoesophageal fistula",
+ "spinal cord morphology phenotype",
+ "Abnormal cardiac atrium morphology",
+ "Neoplasm",
+ "Abnormal intestine morphology",
+ "nervous system process",
+ "limb bone morphology phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "Abnormal gastrointestinal tract morphology",
+ "embryonic morphogenesis",
+ "phalanx of pes morphology phenotype",
+ "body proper",
+ "opening of the anatomical entity",
+ "cell phenotype",
"tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
+ "subdivision of organism along main body axis phenotype",
+ "tunica fibrosa of eyeball",
+ "anatomical structure physiology phenotype",
"mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
+ "appendage",
+ "Abnormal facial shape",
+ "location of anatomical entity phenotype",
+ "tube morphogenesis",
+ "camera-type eye morphology phenotype",
+ "brain gray matter",
+ "embryo development",
+ "Abnormal tracheobronchial morphology",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "size of brain ventricle phenotype",
+ "limb phenotype",
+ "Abnormal anterior eye segment morphology",
+ "organ subunit",
+ "absent sperm in the semen",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "connective tissue phenotype",
"increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
+ "digestive tract",
+ "face morphology phenotype",
+ "Abnormal external genitalia",
+ "arm phenotype",
+ "digestive system phenotype",
+ "Abnormal respiratory system physiology",
+ "reproductive structure physiology phenotype",
+ "Short stature",
+ "Abnormality of the vertebral column",
+ "reproductive organ physiology phenotype",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "male reproductive organ",
+ "sensory perception of mechanical stimulus phenotype",
+ "internal naris phenotype",
+ "disconnected anatomical group",
+ "cerebral cortex",
+ "tracheobronchial tree",
+ "decreased size of the forelimb bone",
+ "tube development",
+ "multicellular anatomical structure phenotype",
+ "Abnormal toe morphology",
+ "Anemia",
+ "morphological feature",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Abnormality of the urethra",
+ "immaterial entity",
+ "Abnormal systemic arterial morphology",
+ "renal system",
"peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
+ "Abnormal anterior chamber morphology",
+ "zeugopodial skeleton",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "immune system",
+ "endocrine system",
+ "sense organ physiology phenotype",
+ "ear physiology phenotype",
+ "uterus morphology phenotype",
+ "Abnormal neural tube morphology",
+ "Abnormal enteric ganglion morphology",
+ "excretory system",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "male reproductive system",
+ "forelimb endochondral element",
+ "physiologic nystagmus",
+ "hemolymphoid system",
+ "organ subunit phenotype",
+ "respiratory tract",
+ "amniotic fluid phenotype",
+ "respiratory tube",
+ "glans",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "developmental process phenotype",
+ "limb endochondral element phenotype",
+ "blood vasculature",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "increased reflex",
+ "long bone",
+ "material entity",
"cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
+ "number of sperm phenotype",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Slanting of the palpebral fissure",
+ "decreased length of limb bone",
+ "structure with developmental contribution from neural crest",
+ "intromittent organ phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "pelvic girdle bone/zone morphology phenotype",
+ "Neural tube defect",
+ "prepuce",
+ "decreased male gamete generation",
+ "organ system subdivision",
+ "Syndactyly",
+ "skeletal system morphology phenotype",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
"Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
+ "independent continuant",
+ "anatomical line between pupils",
+ "reproductive system",
+ "thoracic cavity element",
+ "skeleton",
+ "multicellular organism",
+ "Abnormality of the orbital region",
+ "decreased size of the limb endochondral element",
"roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
- "Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
+ "neural tube development",
+ "external genitalia",
+ "camera-type eye",
+ "decreased number of myeloid cell",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "forelimb zeugopod bone",
"head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "penis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "Abnormal form of the vertebral bodies",
+ "upper urinary tract",
+ "right cardiac chamber",
+ "manual digitopodium region",
+ "gray matter of telencephalon",
+ "urethral meatus",
+ "dorsal region element",
+ "Abnormality of the cardiovascular system",
+ "central nervous system gray matter layer",
+ "pedal digit bone",
+ "increased length of the non-material anatomical boundary",
+ "chamber of eyeball",
+ "Clinodactyly",
+ "palatine uvula",
+ "reproductive structure phenotype",
+ "quality",
"central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
+ "anatomical collection phenotype",
+ "Abnormal toe phalanx morphology",
"arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "increased length of the skin of face",
+ "decreased size of the limb bone",
+ "central nervous system morphology phenotype",
+ "shape of external ear phenotype",
+ "anatomical conduit phenotype",
+ "skeleton of lower jaw",
+ "common carotid artery plus branches morphology phenotype",
+ "eyelid",
"endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
+ "Abnormality of the ear",
+ "decreased qualitatively developmental process involved in reproduction",
+ "Abnormal male urethral meatus morphology",
+ "reproductive structure",
+ "epithelial tube",
+ "decreased height of the anatomical entity",
+ "decreased developmental process involved in reproduction",
+ "Abnormality of the eye",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "anatomical system",
"upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
+ "sense organ phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "Abnormality of reproductive system physiology",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "pedal digit phalanx endochondral element",
+ "organ",
+ "pedal digit plus metapodial segment",
+ "Phenotypic abnormality",
+ "multicellular anatomical structure physiology phenotype",
+ "increased number of organ component layer",
+ "nervous system",
+ "anatomical projection phenotype",
+ "anatomical system physiology phenotype",
+ "Displacement of the urethral meatus",
+ "organ part physiology phenotype",
+ "skin of body morphology phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "Abnormality of immune system physiology",
+ "localised anatomical entity",
+ "organ system subdivision phenotype",
"simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
+ "homeostatic process phenotype",
+ "behavior",
+ "abdomen element",
+ "protruding eyeball of camera-type eye",
+ "embryonic epithelial tube formation",
+ "respiratory airway",
+ "subdivision of trunk",
+ "multicellular organismal movement",
+ "fused anatomical entity and anatomical entity",
"neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
+ "male urethra",
+ "organ part",
+ "Decreased bone element mass density",
+ "material anatomical entity phenotype",
+ "Short palpebral fissure",
+ "umbilicus morphology phenotype",
+ "Abnormal skeletal morphology",
+ "increased pigmentation",
+ "Abnormality of the genital system",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "Abnormal ventriculoarterial connection",
"alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
+ "shape of continuant phenotype",
+ "deviation of digit towards the middle",
+ "lower urinary tract",
"Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
- "pes bone",
- "neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere",
- ],
- "has_phenotype_count": 106,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0013248",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group O",
- "full_name": None,
- "deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
- "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FANCO",
- "Fanconi Anemia, complementation group type O",
- "Fanconi anaemia caused by mutation in RAD51C",
- "Fanconi anaemia caused by mutation in Rad51C",
- "Fanconi anaemia complementation group type O",
- "Fanconi anemia caused by mutation in RAD51C",
- "Fanconi anemia caused by mutation in Rad51C",
- "Fanconi anemia complementation group type O",
- "Fanconi anemia, complementation group O",
- "RAD51C Fanconi anaemia",
- "RAD51C Fanconi anemia",
- "Rad51C Fanconi anaemia",
- "Rad51C Fanconi anemia",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0000126",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0009623",
- "HP:0009777",
- "HP:0001627",
- "HP:0000107",
- "HP:0040012",
- "HP:0003241",
- "HP:0004322",
- "HP:0001245",
- "HP:0002023",
- "HP:0003774",
- "HP:0025023",
- ],
- "has_phenotype_label": [
- "Hydronephrosis",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Proximal placement of thumb",
- "Absent thumb",
- "Abnormal heart morphology",
- "Renal cyst",
- "Chromosome breakage",
- "External genital hypoplasia",
- "Short stature",
- "Small thenar eminence",
+ "jaw region",
+ "artery",
+ "telencephalon phenotype",
+ "curved anatomical entity",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "subdivision of organism along appendicular axis",
+ "decreased length of endochondral element",
+ "Abnormal cell morphology",
+ "Abnormal palate morphology",
+ "articulation",
+ "cornea, curved phenotype",
+ "mesoderm-derived structure",
+ "autopod bone",
+ "system",
+ "anatomical structure, curved phenotype",
+ "brain morphology phenotype",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "musculoskeletal movement phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "transparent eye structure",
+ "dentary",
+ "behavior process phenotype",
+ "femur endochondral element",
+ "organ component layer phenotype",
+ "subdivision of tube",
+ "Abnormality of the inner ear",
+ "vertebra morphology phenotype",
+ "Decreased fertility in males",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "subdivision of oviduct",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "cerebral cortex morphology phenotype",
+ "urethra phenotype",
+ "Abnormality of the lower urinary tract",
+ "Hypogonadism",
+ "urethral opening",
+ "arm bone",
+ "skeleton of pectoral complex",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "increased size of the zone of skin",
+ "cornea phenotype",
+ "formed chamber of eyeball",
+ "Decreased head circumference",
+ "anatomical entity",
+ "localised material anatomical entity",
+ "ear phenotype",
+ "musculoskeletal movement",
+ "decreased qualitatively biological_process",
+ "increased volume of anatomical entity",
+ "forelimb bone",
+ "Abnormal uvula morphology",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "Intellectual disability",
+ "embryonic structure",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "proximo-distal subdivision of respiratory tract",
+ "Abnormal penis morphology",
+ "appendage phenotype",
+ "Hypoplastic facial bones",
+ "organism subdivision phenotype",
+ "arm",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "ocular surface region",
+ "thoracic segment of trunk",
+ "bone of jaw phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "tetrapod frontal bone morphology phenotype",
+ "pes bone",
+ "renal pelvis/ureter",
+ "male urethral meatus",
+ "primary neural tube formation",
+ "Abnormality of the respiratory system",
+ "segment of autopod",
+ "ductus arteriosus morphology phenotype",
+ "increased pigmentation in skin of body",
+ "cranial neuron projection bundle phenotype",
+ "Abnormal male reproductive system physiology",
+ "reproductive organ",
+ "Abnormality of the digestive system",
+ "anatomical structure development",
+ "arterial blood vessel",
+ "decreased spermatogenesis",
+ "limb segment",
+ "external genitalia phenotype",
+ "nervous system cell part layer",
+ "aplasia or hypoplasia of uvea",
+ "size of palpebral fissure phenotype",
+ "vestibulo-ocular reflex",
+ "neocortex",
+ "Abnormality of refraction",
+ "digit 5",
+ "Abnormal curvature of the vertebral column",
+ "multi cell part structure phenotype",
+ "ureter phenotype",
+ "hematopoietic system",
+ "multicellular anatomical structure",
+ "reproductive system phenotype",
+ "hindlimb endochondral element",
+ "ventricular system of brain",
+ "innominate bone morphology phenotype",
+ "eye phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal vertebral morphology",
+ "Abnormal male external genitalia morphology",
+ "localised reproductive organ",
+ "glandular system",
+ "myocardium",
+ "external ear",
+ "decreased length of bone of appendage girdle complex",
+ "bone of appendage girdle complex",
+ "anatomical wall",
+ "closing of the material anatomical entity",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "sensory system",
+ "Scoliosis",
+ "multicellular anatomical structure, curved phenotype",
+ "Almond-shaped palpebral fissure",
+ "response to stimulus phenotype",
+ "Abdominal wall defect",
+ "material anatomical entity physiology phenotype",
+ "Abnormal involuntary eye movements",
+ "Abnormal tracheal morphology",
+ "cerebrospinal fluid",
+ "main body axis",
+ "tissue development",
+ "venous blood vessel",
+ "camera-type eye phenotype",
+ "physiologic nystagmus phenotype",
+ "increased size of the immaterial anatomical entity",
+ "manus",
+ "chemosensory system",
+ "organ physiology phenotype",
+ "Microphthalmia",
+ "absent anatomical entity in the multicellular organism",
+ "renal system phenotype",
+ "bone marrow cell",
+ "multicellular organism phenotype",
+ "upper limb segment",
+ "biological_process",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "camera-type eye physiology phenotype",
+ "blood vessel morphology phenotype",
+ "zone of skin morphology phenotype",
+ "ganglion",
+ "subdivision of head phenotype",
+ "Abnormality of the curvature of the cornea",
+ "cell",
+ "Abnormality of the mouth",
+ "Finger syndactyly",
+ "lower respiratory tract",
+ "visual system",
+ "uvea morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal system physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "Hypermelanotic macule",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "zone of organ phenotype",
+ "trachea",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Abnormal respiratory system morphology",
+ "Multiple cafe-au-lait spots",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal lens morphology",
+ "simple eye physiology phenotype",
"Anal atresia",
- "Stage 5 chronic kidney disease",
- "Rectal atresia",
- ],
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0012361",
- "UPHENO:0084771",
- "NCBITaxon:2759",
- "HP:0025023",
- "HP:0002242",
- "UPHENO:0074330",
- "UPHENO:0004518",
- "UBERON:0004907",
- "UBERON:0006866",
- "UBERON:0001052",
- "UPHENO:0063563",
- "HP:0002034",
- "HP:0011024",
- "UPHENO:0002988",
- "UPHENO:0063632",
- "HP:0002250",
- "UBERON:0001353",
- "NCBITaxon:131567",
- "UPHENO:0063629",
- "UPHENO:0002902",
- "UPHENO:0002994",
- "UPHENO:0074335",
- "UBERON:0000481",
- "UPHENO:0076735",
- "UPHENO:0076773",
- "NCBITaxon:33154",
- "UPHENO:0063575",
- "UPHENO:0005046",
- "NCBITaxon:1",
- "HP:0011100",
- "UPHENO:0063615",
- "UPHENO:0002426",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002386",
- "HP:0002589",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
- "HP:0000083",
- "UBERON:0000059",
- "UPHENO:0002442",
- "HP:0012622",
- "UPHENO:0002267",
- "HP:0012211",
- "HP:0025033",
- "UPHENO:0002839",
- "UPHENO:0063594",
- "UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "HP:0002023",
- "UPHENO:0063599",
- "UPHENO:0002548",
- "UPHENO:0074230",
- "UBERON:0001555",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0074245",
- "HP:0025031",
- "UPHENO:0002812",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0002655",
- "HP:0001245",
- "HP:0003011",
- "UBERON:0007269",
- "UBERON:0034929",
- "HP:0001446",
- "UPHENO:0003057",
- "HP:0009127",
- "UPHENO:0081341",
- "UPHENO:0003047",
- "HP:0001421",
- "UPHENO:0002647",
- "UBERON:0014793",
- "UBERON:0007271",
- "HP:0002818",
- "UPHENO:0002944",
- "UPHENO:0002832",
- "UPHENO:0046483",
- "GO:0031324",
- "UPHENO:0004900",
- "UPHENO:0008548",
- "HP:0009115",
- "UBERON:0002204",
- "UBERON:0000465",
- "UPHENO:0027017",
- "HP:0011314",
- "UPHENO:0005214",
- "HP:0003774",
- "UBERON:0001008",
- "HP:0000077",
- "UBERON:0001245",
- "HP:0045060",
- "UPHENO:0012308",
- "HP:0006501",
- "UPHENO:0068898",
- "UPHENO:0001360",
- "UBERON:0019231",
- "UPHENO:0046538",
- "HP:0000002",
- "HP:0009826",
- "UPHENO:0002593",
- "UPHENO:0086956",
- "GO:0008150",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005409",
- "UBERON:0003103",
- "HP:0009821",
- "UPHENO:0046552",
- "UPHENO:0081091",
- "UPHENO:0050065",
- "HP:0010946",
- "UPHENO:0075944",
- "HP:0011277",
- "UBERON:0008962",
- "HP:0009484",
- "UPHENO:0009209",
- "UBERON:0015001",
- "UBERON:0001440",
- "UPHENO:0002554",
- "UPHENO:0074311",
- "UPHENO:0003812",
- "UBERON:0002386",
- "HP:0012732",
- "UPHENO:0002746",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "HP:0001627",
- "UPHENO:3000004",
- "HP:0009601",
- "UPHENO:0003084",
- "UBERON:0010712",
- "UBERON:0007272",
- "UPHENO:0069163",
- "UBERON:0004381",
- "UPHENO:0087346",
- "UBERON:0005173",
- "UPHENO:0003095",
- "UBERON:0000991",
- "UPHENO:0002648",
- "UBERON:0006717",
- "UPHENO:0068848",
- "HP:0009815",
- "UPHENO:0002594",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UBERON:0002495",
- "UPHENO:0050126",
- "UBERON:0008785",
- "UPHENO:0076718",
- "UBERON:0011584",
- "UBERON:0011582",
- "UPHENO:0002600",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UBERON:0010000",
- "HP:0010945",
- "UPHENO:0087349",
- "UPHENO:0046455",
- "UPHENO:0075195",
- "UPHENO:0069674",
- "UPHENO:0002659",
- "HP:0040068",
- "HP:0009824",
- "UPHENO:0012274",
- "UPHENO:0026181",
- "UBERON:0000161",
- "UPHENO:0002531",
- "UPHENO:0076727",
- "UBERON:0011143",
- "UPHENO:0069064",
- "GO:0005623",
- "UPHENO:0078606",
- "UPHENO:0069328",
- "UPHENO:0011825",
- "UPHENO:0046505",
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- "UPHENO:0025585",
- "UBERON:0000064",
- "UPHENO:0002576",
- "HP:0000028",
- "UPHENO:0046465",
- "UBERON:0003606",
- "UPHENO:0049587",
- "UBERON:0001224",
- "UPHENO:0002632",
- "UBERON:0000489",
- "HP:0040064",
- "UPHENO:0050007",
- "HP:0010944",
- "UPHENO:0046484",
- "UBERON:0011216",
- "UPHENO:0068971",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0002852",
- "UPHENO:0002525",
- "UBERON:0001062",
- "HP:0000126",
- "UBERON:0002101",
- "HP:0001197",
- "HP:0000001",
- "UPHENO:0002536",
- "GO:0009890",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UBERON:0004288",
- "UPHENO:0076740",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UBERON:0000323",
- "HP:0000119",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0084132",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "UPHENO:0003088",
- "UPHENO:0046707",
- "UPHENO:0002650",
- "UPHENO:0046397",
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- ],
- "has_phenotype_closure_label": [
- "Intestinal atresia",
- "Anorectal anomaly",
- "alimentary part of gastrointestinal system",
- "cellular organisms",
- "Rectal atresia",
- "closing of the subdivision of digestive tract",
- "Eumetazoa",
- "closing of the anatomical system",
- "Abnormality of the gastrointestinal tract",
- "intestine phenotype",
- "anal region",
- "alimentary part of gastrointestinal system atresia",
- "Metazoa",
- "internal anal region",
- "organism",
- "digestive system element phenotype",
- "rectum phenotype",
- "Abnormal large intestine morphology",
- "large intestine",
- "Opisthokonta",
- "Abnormal gastrointestinal tract morphology",
- "subdivision of digestive tract phenotype",
- "lower digestive tract",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "terminal part of digestive tract",
- "rectum",
- "multi-tissue structure",
- "rectum morphology phenotype",
- "alimentary part of gastrointestinal system phenotype",
- "intestine morphology phenotype",
- "organ physiology phenotype",
- "material anatomical entity physiology phenotype",
- "abdominal segment element physiology phenotype",
- "trunk region element physiology phenotype",
- "kidney physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "lateral structure physiology phenotype",
- "renal system physiology phenotype",
- "compound organ physiology phenotype",
- "tube",
- "digestive system",
- "closing of the multicellular anatomical structure",
- "digestive system morphology phenotype",
- "Abnormality of the digestive system",
- "ectoderm-derived structure",
- "Gastrointestinal atresia",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus atresia",
- "anus morphology phenotype",
- "Abnormality of the anus",
- "ectoderm-derived structure atresia",
- "closing of the anatomical conduit",
- "orifice atresia",
- "material anatomical entity atresia",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "tube phenotype",
- "muscle structure",
- "pectoral appendage musculature phenotype",
- "Abnormality of the musculature",
- "Abnormality of the musculature of the limbs",
- "thenar eminence hypoplasia",
- "Small thenar eminence",
- "Abnormal skeletal muscle morphology",
- "Abnormality of the musculature of the hand",
- "thenar eminence",
- "muscle structure phenotype",
- "intestine atresia",
- "skeleton phenotype",
- "absent anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "obsolete cell",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "decreased length of skeletal element",
- "long bone phenotype",
- "testis",
- "forelimb skeleton phenotype",
- "palmar part of manus",
- "Abnormal anus morphology",
- "musculature of pectoral complex phenotype",
- "zeugopod phenotype",
- "absent anatomical structure",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "anatomical system atresia",
- "biological regulation",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "long bone morphology phenotype",
- "zeugopod",
- "musculoskeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "zeugopodial skeleton",
- "decreased size of the multicellular anatomical structure",
- "radius endochondral element",
- "long bone",
- "limb",
- "manual digit phenotype",
- "subdivision of skeleton",
- "limb long bone",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "Abnormality of chromosome stability",
- "radius bone morphology phenotype",
- "paired limb/fin phenotype",
- "Deviation of the hand or of fingers of the hand",
- "musculature of manus phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "musculature of upper limb phenotype",
- "large intestine morphology phenotype",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "Limb undergrowth",
- "pectoral appendage skeleton",
- "digestive tract",
- "skeleton of limb",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "regulation of macromolecule metabolic process",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "decreased size of the bone of pectoral complex",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "limb phenotype",
- "Abnormal skeletal morphology",
- "Chronic kidney disease",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb segment phenotype",
- "upper limb segment",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "arm bone phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "dilated anatomical entity",
- "process",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "skeletal system morphology phenotype",
- "pectoral complex",
- "forelimb long bone phenotype",
- "Chromosome breakage",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical entity length phenotype",
- "male reproductive system",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "agenesis of anatomical entity",
- "thoracic cavity element phenotype",
- "musculoskeletal system",
- "limb segment",
- "arm",
- "skeleton of limb phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "endochondral bone",
- "decreased size of the bone element",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased length of bone of pectoral complex",
- "subdivision of tube",
- "Fetal pyelectasis",
- "decreased size of the material anatomical entity",
- "skeletal element",
- "appendage girdle complex",
- "paired limb/fin skeleton phenotype",
- "cavitated compound organ phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "organ part",
- "endochondral bone phenotype",
- "anatomical cluster",
- "Short long bone",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "increased size of the renal pelvis",
- "increased size of the anatomical conduit",
- "decreased size of the organism subdivision",
- "negative regulation of macromolecule metabolic process phenotype",
- "increased size of the anatomical entity",
- "Renal insufficiency",
- "bone element phenotype",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "increased size of the anatomical structure",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "cavitated compound organ",
- "abdomen element phenotype",
- "location of anatomical entity phenotype",
- "taxon specific phenotype",
- "forelimb zeugopod bone",
- "renal pelvis morphology phenotype",
- "forelimb phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "Abnormal testis morphology",
- "viscus",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "negative regulation of gene expression phenotype",
- "organism subdivision phenotype",
- "palmar part of manus phenotype",
- "material anatomical entity",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "body proper",
- "late embryo",
- "size of anatomical entity phenotype",
- "trunk",
- "organ part phenotype",
- "Fetal anomaly",
- "abdominal segment of trunk",
- "subdivision of organism along main body axis",
- "negative regulation of metabolic process",
- "material entity",
- "Abnormal renal pelvis morphology",
- "increased size of the material anatomical entity",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "anatomical structure",
- "Abnormality of the urinary system",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "localised male reproductive organ",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "decreased size of the arm bone",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "forelimb zeugopod bone hypoplasia",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "musculature of body phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "absent organism subdivision",
- "absent autopodial extension",
- "negative regulation of biosynthetic process",
- "decreased size of the forelimb bone",
- "main body axis",
- "organism subdivision",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "homeostatic process phenotype",
- "anatomical collection",
- "increased size of the organ part",
- "renal system phenotype",
- "anatomical cluster phenotype",
- "decreased size of the skeletal element",
- "multicellular organism",
- "lateral structure",
- "negative regulation of cellular process",
- "decreased size of the forelimb endochondral element",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "Abnormality of the upper limb",
- "Abnormal finger morphology",
- "genitourinary system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
- "increased size of the multicellular anatomical structure",
- "decreased length of manual digit 1 or 5",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "closing of the anatomical structure",
- "phenotypic effect",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Short finger",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "thoracic segment of trunk",
- "subdivision of tube phenotype",
- "All",
- "Abnormal morphology of the radius",
- "Abnormality of the kidney",
- "specifically dependent continuant",
- "digestive system element",
- "external genitalia",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "cardiovascular system",
- "size of multicellular organism phenotype",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Deviation of finger",
- "kidney",
- "reproductive organ phenotype",
- "organ phenotype",
- "skeleton",
- "abdominal segment element phenotype",
- "Abnormal fetal morphology",
- "Abnormal rectum morphology",
- "subdivision of trunk phenotype",
- "Abnormal cellular physiology",
- "organ",
- "Fetal ultrasound soft marker",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "Upper limb undergrowth",
- "quality",
- "embryo phenotype",
- "aplastic anatomical entity",
- "muscle organ",
- "genitourinary system",
- "trunk region element",
- "renal pelvis",
- "paired limb/fin segment phenotype",
- "compound organ",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "embryonic development/birth phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "reproductive system",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Dilatation of the renal pelvis",
- "renal pelvis phenotype",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "skeleton of pectoral complex",
- "decreased length of endochondral bone",
- "Abnormality of the urinary system physiology",
- "trunk phenotype",
- "dilated renal pelvis",
- "male organism phenotype",
- "appendicular skeleton",
- "Abnormal forearm bone morphology",
- "renal system",
- "decreased length of bone of free limb or fin",
- "manual digit 1 morphology phenotype",
- "Hypoplasia of the radius",
- "limb bone",
- "multicellular anatomical structure",
- "cavitated compound organ physiology phenotype",
- "decreased length of anatomical entity",
- "embryo",
- "decreased size of the limb bone",
- "gonad phenotype",
- "decreased size of the digit",
- "compound organ phenotype",
- "musculature of pectoral complex",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "palmar/plantar part of autopod",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "bone of pectoral complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "musculature of body",
- "musculature",
- "absent manual digit",
- "anatomical structure atresia",
- "skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "radius bone hypoplasia",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "heart phenotype",
- "bone of pectoral complex phenotype",
- "Abnormal fetal genitourinary system morphology",
- "musculature of upper limb",
- "anatomical collection phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "localised reproductive organ",
- "muscle organ morphology phenotype",
- "anatomical entity height phenotype",
- "reproductive structure",
- "closing of the organ part",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "decreased length of organism subdivision",
- "large intestine phenotype",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormal intestine morphology",
- "thenar eminence phenotype",
- "external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "Abnormality of the cardiovascular system",
- "deviation of manual digit",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "Abnormality of prenatal development or birth",
- "localised testis",
- "root",
- "external genitalia phenotype",
- "localised gonad",
- "localised anatomical entity",
- "regulation of macromolecule biosynthetic process phenotype",
- "Hydronephrosis",
- "Proximal placement of thumb",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "anus",
- "renal pelvis/ureter",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "Abnormal forearm morphology",
- "regulation of cellular process",
- "manus morphology phenotype",
- "digit phenotype",
- "Stage 5 chronic kidney disease",
- "anus phenotype",
- "autopodial extension phenotype",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "decreased length of material anatomical entity",
- "pectoral appendage musculature",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "organ system subdivision phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "segment of autopod",
- "viscus phenotype",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "decreased length of digit 1",
- "regulation of cellular biosynthetic process",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "decreased length of limb endochondral element",
- "deviation of anatomical entity",
- "rectum atresia",
- "manus",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "decreased size of the multicellular organism",
- "Short digit",
- "autopod region morphology phenotype",
- "Short thumb",
- "Abnormality of the hand",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "negative regulation of macromolecule metabolic process",
- "musculature of limb",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "Deviation of the thumb",
- "deviation of manual digit 1",
- "decreased size of the manual digit",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "absent digit",
- "absent anatomical structure in the limb",
- "structure with developmental contribution from neural crest",
- "Abnormal heart morphology",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased height of the multicellular organism",
- "circulatory organ",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "thoracic cavity element",
- "anatomical entity",
- "localised organ",
- "primary circulatory organ",
- "heart plus pericardium",
- "primary circulatory organ phenotype",
- "Absent thumb",
- "late embryo phenotype",
- "cardiovascular system morphology phenotype",
- "cardiovascular system phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "subdivision of tube atresia",
- "circulatory system",
- "Abnormality of the genital system",
- "thoracic segment organ phenotype",
- "biological_process",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "Renal cyst",
- "pathological phenotype observation",
- "negative regulation of cellular biosynthetic process",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "biological regulation phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "Abnormal renal morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "Short forearm",
- "testis phenotype",
- "growth phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "homeostatic process",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "negative regulation of gene expression",
- "cell phenotype",
- "regulation of cellular process phenotype",
- "Abnormal cellular phenotype",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "manual digit",
- "regulation of biological process",
- "negative regulation of biological process phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "External genital hypoplasia",
- "Growth delay",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "Aplasia/hypoplasia involving bones of the extremities",
- "forelimb zeugopod phenotype",
- "Abnormality of body height",
- "regulation of gene expression phenotype",
- "delayed biological_process",
- "excretory system",
- "paired limb/fin segment",
- "multicellular organism height phenotype",
- "musculature of limb phenotype",
- "radius bone",
- "Short stature",
- "Abnormality of the thenar eminence",
- "muscle organ phenotype",
- "external soft tissue zone",
- "Abnormality of the musculature of the upper limbs",
- "appendage musculature",
- "appendage musculature phenotype",
- "external soft tissue zone phenotype",
- "anatomical structure physiology phenotype",
- "musculature of manus",
- ],
- "has_phenotype_count": 15,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0013499",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group P",
- "full_name": None,
- "deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
- "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FANCP",
- "Fanconi Anemia, complementation group type P",
- "Fanconi anaemia caused by mutation in SLX4",
- "Fanconi anaemia caused by mutation in Slx4",
- "Fanconi anaemia complementation group type P",
- "Fanconi anemia caused by mutation in SLX4",
- "Fanconi anemia caused by mutation in Slx4",
- "Fanconi anemia complementation group type P",
- "Fanconi anemia, complementation group P",
- "SLX4 Fanconi anaemia",
- "SLX4 Fanconi anemia",
- "Slx4 Fanconi anaemia",
- "Slx4 Fanconi anemia",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001876",
- "HP:0000347",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0001510",
- "HP:0000125",
- "HP:0009777",
- "HP:0000414",
- "HP:0000957",
- "HP:0001903",
- "HP:0012745",
- "HP:0000085",
- "HP:0000581",
- "HP:0003221",
- "HP:0002860",
- "HP:0004322",
- "HP:0000365",
- "HP:0000252",
- "HP:0001045",
- ],
- "has_phenotype_label": [
- "Pancytopenia",
- "Micrognathia",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Growth delay",
- "Pelvic kidney",
- "Absent thumb",
- "Bulbous nose",
- "Cafe-au-lait spot",
- "Anemia",
- "Short palpebral fissure",
- "Horseshoe kidney",
- "Blepharophimosis",
- "Chromosomal breakage induced by crosslinking agents",
- "Squamous cell carcinoma",
- "Short stature",
- "Hearing impairment",
- "Microcephaly",
- "Vitiligo",
- ],
- "has_phenotype_closure": [
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- "NCBITaxon:2759",
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- ],
- "has_phenotype_closure_label": [
- "Vitiligo",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "multi-tissue structure",
- "central nervous system phenotype",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "anatomical structure physiology phenotype",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "organ physiology phenotype",
- "ear physiology phenotype",
- "material anatomical entity physiology phenotype",
- "structure with developmental contribution from neural crest physiology phenotype",
- "Microcephaly",
- "sensory perception phenotype",
- "Hearing abnormality",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "decreased biological_process",
- "sensory perception",
- "Abnormality of the ear",
- "nervous system process",
- "decreased sensory perception",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Neoplasm",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "negative regulation of metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "negative regulation of gene expression phenotype",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "Abnormality of the nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Blepharophimosis",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "Abnormal size of the palpebral fissures",
- "decreased length of ectoderm-derived structure",
- "visual system",
- "camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "multi organ part structure phenotype",
- "eye",
- "orbital region",
- "palpebral fissure phenotype",
- "orbital region phenotype",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eye phenotype",
- "system process",
- "simple eye",
- "eyelid",
- "homeostatic process phenotype",
- "palpebral fissure",
- "decreased size of the orifice",
- "orifice phenotype",
- "multi organ part structure",
- "decreased size of the anatomical conduit",
- "visual system phenotype",
- "size of palpebral fissure phenotype",
- "Abnormality of the orbital region",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "Irregular hyperpigmentation",
- "eyelid morphology phenotype",
- "integumental system",
- "multicellular organismal process",
- "increased biological_process in skin of body",
- "Localized skin lesion",
- "ear phenotype",
- "increased pigmentation",
- "Cafe-au-lait spot",
- "increased biological_process",
- "pigmentation",
- "Hypermelanotic macule",
- "skin of body phenotype",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "increased size of the sense organ",
- "olfactory organ phenotype",
- "sense organ phenotype",
- "anatomical point phenotype",
- "shape kidney",
- "increased size of the nose",
- "sense organ",
- "entire sense organ system",
- "immaterial entity",
- "increased size of the multicellular anatomical structure",
- "programmed DNA elimination by chromosome breakage",
- "Macule",
- "anatomical point",
- "increased size of the material anatomical entity",
- "pigmentation phenotype",
- "increased size of the ectoderm-derived structure",
- "Abnormal external nose morphology",
- "increased volume of nose",
- "olfactory organ",
- "Bulbous nose",
- "sensory system",
- "increased size of the anatomical entity",
- "Abnormal nasal tip morphology",
- "external soft tissue zone phenotype",
- "increased size of the anatomical structure",
- "ocular adnexa",
- "Abnormality of the nose",
- "increased size of the organism subdivision",
- "external nose",
- "nose",
- "external soft tissue zone",
- "Abnormal nasal morphology",
- "absent anatomical structure in the limb",
- "absent material anatomical entity in the limb",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "external nose phenotype",
- "absent manual digit",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "absent anatomical entity in the limb",
- "absent multicellular anatomical structure",
- "aplastic manual digit 1",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "absent material anatomical entity",
- "trunk phenotype",
- "renal system morphology phenotype",
- "trunk region element",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "paired limb/fin",
- "material anatomical entity phenotype",
- "cell",
- "limb bone phenotype",
- "skeleton phenotype",
- "Abnormality of the head",
- "Abnormality of chromosome stability",
- "facial bone phenotype",
- "decreased number of anatomical entity",
- "lateral structure phenotype",
- "skeleton of limb phenotype",
- "arm",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "tube",
- "autopodial extension phenotype",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "skeleton",
- "organ phenotype",
- "mandible phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "decreased size of the bone element",
- "endochondral bone",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "primary subdivision of skull phenotype",
- "nose morphology phenotype",
- "decreased length of endochondral bone",
- "neural crest-derived structure",
- "jaw region",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "digestive system morphology phenotype",
- "organ part phenotype",
- "digestive system element phenotype",
- "increased volume of anatomical entity",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "root",
- "nose phenotype",
- "external genitalia phenotype",
- "increased size of the organ",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "structure with developmental contribution from neural crest",
- "Abnormal forebrain morphology",
- "membrane bone phenotype",
- "Abnormal jaw morphology",
- "Abnormality of the palpebral fissures",
- "Abnormal digestive system morphology",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "nose tip morphology phenotype",
- "Abnormal skull morphology",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "limb morphology phenotype",
- "aplastic anatomical entity",
- "Abnormal oral morphology",
- "genitourinary system",
- "negative regulation of cellular process",
- "jaw skeleton morphology phenotype",
- "body proper",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "organism subdivision phenotype",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "forelimb morphology phenotype",
- "subdivision of tube",
- "face",
- "dermal skeleton phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "dermal bone",
- "skeleton of lower jaw",
- "facial bone",
- "bone of lower jaw phenotype",
- "multicellular organism",
- "eukaryotic cell",
- "anatomical collection",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "head bone phenotype",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "subdivision of digestive tract phenotype",
- "craniofacial/craniocervical phenotype",
- "bone of craniocervical region",
- "intramembranous bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "regulation of gene expression",
- "subdivision of digestive tract",
- "dermal skeleton",
- "cell phenotype",
- "axial skeleton plus cranial skeleton",
- "localised reproductive organ",
- "bone element hypoplasia in face",
- "autopod region morphology phenotype",
- "Abnormality of the skin",
- "mouth morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "Pancytopenia",
- "hematopoietic system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "trunk",
- "Aplasia/Hypoplasia of the radius",
- "limb endochondral element",
- "specifically dependent continuant",
- "decreased size of the bone of pectoral complex",
- "Abnormality of the kidney",
- "bone marrow cell",
- "facial skeleton morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "external nose morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "skeleton of lower jaw phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "trunk region element phenotype",
- "cranial skeletal system",
- "Abnormal platelet morphology",
- "subdivision of skeletal system phenotype",
- "skeletal element",
- "Finger aplasia",
- "Abnormal facial skeleton morphology",
- "decreased size of the arm bone",
- "subdivision of head",
- "endochondral element phenotype",
- "Abnormality of the digestive system",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "nose tip phenotype",
- "multicellular anatomical structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "number of anatomical enitites of type anatomical entity phenotype",
- "endochondral element",
- "bone cell",
- "Abnormal bone marrow cell morphology",
- "Abnormal skeletal morphology",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "bone of jaw",
- "erythrocyte",
- "Abnormality of blood and blood-forming tissues",
- "lower jaw region",
- "anatomical structure",
- "Aplasia/Hypoplasia of the mandible",
- "anucleate cell",
- "dentary",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "organ",
- "Thrombocytopenia",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Abnormality of the genitourinary system",
- "Short finger",
- "Abnormal cell morphology",
- "anatomical entity phenotype",
- "decreased length of palpebral fissure",
- "jaw skeleton",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Abnormality of the mouth",
- "axial skeletal system",
- "facial skeleton phenotype",
- "Chromosome breakage",
- "Abnormal platelet count",
- "Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
- "appendage girdle complex",
- "Abnormality of the skeletal system",
- "anatomical conduit phenotype",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "ear",
- "Abnormal erythrocyte morphology",
- "absent anatomical structure",
- "dermatocranium",
- "decreased length of digit 1",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "hematopoietic cell",
- "hemolymphoid system",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "musculature of body phenotype",
- "Anemia",
- "skeleton of limb",
- "digestive tract",
- "decreased length of orifice",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "decreased size of the forelimb bone",
- "main body axis",
- "mandible morphology phenotype",
- "integument phenotype",
- "musculature",
- "dermal skeletal element phenotype",
- "decreased size of the anatomical structure",
- "bone of lower jaw",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "Short forearm",
- "growth phenotype",
- "testis phenotype",
- "bone marrow",
- "nucleate cell",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal cellular immune system morphology",
- "forelimb zeugopod bone hypoplasia",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "decreased sensory perception of mechanical stimulus",
- "bone of jaw phenotype",
- "taxon specific phenotype",
- "forelimb phenotype",
- "anatomical collection phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "Abnormal limb bone morphology",
- "organ part",
- "endochondral bone phenotype",
- "lateral structure",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "decreased number of material anatomical entity",
- "skin of body",
- "number of platelet phenotype",
- "localised testis",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "leukocyte",
- "material entity",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "facial skeleton",
- "serotonin secreting cell",
- "arm bone phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "Short long bone",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "decreased qualitatively biological_process",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "oxygen accumulating cell",
- "bone of craniocervical region phenotype",
- "hematopoietic system",
- "mandible",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "simple eye phenotype",
- "blood cell phenotype",
- "decreased number of hematopoietic cell",
- "anatomical entity hypoplasia in face",
- "camera-type eye phenotype",
- "limb bone",
- "number of cell phenotype",
- "zeugopod phenotype",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "mouth",
- "Abnormal cellular phenotype",
- "subdivision of tube phenotype",
- "All",
- "appendicular skeleton",
- "male organism phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ system subdivision phenotype",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "agenesis of anatomical entity",
- "number of hematopoietic cell phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "sense organ physiology phenotype",
- "primary subdivision of skull",
- "tube phenotype",
- "decreased number of cell",
- "musculature of body",
- "skeletal system",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "anatomical entity morphology in the pectoral complex phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "absent multicellular anatomical structure in the limb",
- "facial bone hypoplasia",
- "decreased size of the long bone",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "Abnormality of the integument",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "craniocervical region phenotype",
- "aplasia or hypoplasia of mandible",
- "digit 1 or 5 phenotype",
- "dermatocranium phenotype",
- "localised multicellular anatomical structure",
- "platelet",
- "primary subdivision of cranial skeletal system",
- "regulation of biological process",
- "manual digit",
- "decreased length of arm bone",
- "long bone",
- "vestibulo-auditory system phenotype",
- "upper limb segment",
- "limb segment phenotype",
- "limb segment",
- "decreased height of the multicellular organism",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased length of mesoderm-derived structure",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "decreased length of forelimb zeugopod bone",
- "Short palpebral fissure",
- "forelimb long bone phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "digit 1 or 5",
- "forelimb",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "forelimb zeugopod skeleton",
- "Squamous cell carcinoma",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "decreased length of anatomical entity",
- "decreased size of the skeletal element",
- "decreased length of multicellular anatomical structure",
- "neural crest-derived structure phenotype",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "immune system morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "decreased length of organ",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "bone of pectoral complex morphology phenotype",
- "mouth phenotype",
- "abdomen",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "pectoral appendage skeleton",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "negative regulation of cellular metabolic process",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "radius bone morphology phenotype",
- "upper limb segment phenotype",
- "Neoplasm of the skin",
- "biological_process phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
- "intramembranous bone phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "decreased length of bone of pectoral complex",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Aplasia/Hypoplasia involving bones of the skull",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "vestibulo-auditory system",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "size of anatomical entity phenotype",
- "quality",
- "Upper limb undergrowth",
- "absent anatomical entity",
- "acropodium region",
- "zeugopodial skeleton",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "decreased size of the endochondral bone",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "long bone phenotype",
- "decreased length of skeletal element",
- "testis",
- "male reproductive system",
- "anatomical entity length phenotype",
- "decreased size of the limb bone",
- "non-connected functional system",
- "gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "forelimb skeleton phenotype",
- "digestive system element",
- "pectoral appendage phenotype",
- "external genitalia",
- "limb bone morphology phenotype",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Limb undergrowth",
- "decreased size of the forelimb endochondral element",
- "arm bone",
- "occurrent",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "decreased size of the palpebral fissure",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "radius bone hypoplasia",
- "decreased length of bone of free limb or fin",
- "renal system",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "dermal bone phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "bone of pectoral complex phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "male reproductive system phenotype",
- "kidney phenotype",
- "reproductive structure",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "craniocervical region",
- "decreased length of organism subdivision",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormality of the genital system",
- "reproductive organ phenotype",
- "kidney",
- "genitourinary system phenotype",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
- "nose tip",
- "localised gonad",
- "head phenotype",
- "anatomical entity",
- "localised organ",
- "location of anatomical entity phenotype",
- "renal system phenotype",
- "localised anatomical entity",
- "localised material anatomical entity",
- "reproductive system",
- "face morphology phenotype",
- "dermal skeletal element",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "subdivision of organism along main body axis phenotype",
- "aplasia or hypoplasia of skull",
- "male organism",
- "membrane bone",
- "decreased length of autopodial extension",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "myeloid cell",
- "autopod region",
- "decreased qualitatively nervous system process",
- "segment of autopod",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "Hypoplastic facial bones",
- "manus",
- "integument",
- "skeleton of manus",
- "reproductive system phenotype",
- "autopodial extension",
- "Short digit",
- "Short thumb",
- "skull",
- "Abnormality of the hand",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "head bone",
- "Ectopic kidney",
- "decreased length of anatomical conduit",
- "Growth delay",
- "biological_process",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "growth",
- "regulation of gene expression phenotype",
- "increased size of the olfactory organ",
- "delayed biological_process",
- "delayed growth",
- "abdominal segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "abdominal segment element",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "abdomen element phenotype",
- "dentary phenotype",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "Micrognathia",
- "renal/urinary system phenotype",
- "localised abdomen element",
- "abdominal segment element phenotype",
- ],
- "has_phenotype_count": 20,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0024525",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
- "full_name": None,
- "deprecated": None,
- "description": None,
- "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001942",
- "HP:0002148",
- "HP:0000124",
- "HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
- "HP:0002748",
- "HP:0034359",
- "HP:0003076",
- "HP:0003155",
- "HP:0000083",
- "HP:0003355",
- "HP:0004322",
- "HP:0003126",
- "HP:0001324",
- ],
- "has_phenotype_label": [
- "Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
- "Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
- "Impaired renal tubular reabsorption of phosphate",
- "Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
- "Renal insufficiency",
- "Aminoaciduria",
- "Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness",
- ],
- "has_phenotype_closure": [
- "UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
- "HP:0000093",
- "HP:0003126",
- "CHEBI:37622",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0081424",
- "UPHENO:0069062",
- "UPHENO:0069254",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0081423",
- "UPHENO:0049874",
- "UPHENO:0075195",
- "GO:0040007",
- "UPHENO:0000541",
- "HP:0004322",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "HP:0040156",
- "CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "CHEBI:33575",
- "UPHENO:0046286",
- "HP:0000083",
- "CHEBI:36080",
- "CHEBI:33839",
- "CHEBI:33256",
- "HP:0001992",
- "HP:0004379",
- "PR:000064867",
- "UPHENO:0046383",
- "CHEBI:33694",
- "HP:0012379",
- "PR:000018263",
- "CHEBI:51143",
- "CHEBI:33695",
- "HP:0034684",
- "PR:000003968",
- "CHEBI:36963",
- "CHEBI:18133",
- "CHEBI:15693",
- "CHEBI:33917",
- "CHEBI:33582",
- "CHEBI:16646",
- "CHEBI:36962",
- "CHEBI:50860",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "GO:0003014",
- "UPHENO:0081777",
- "GO:0070293",
- "HP:0000002",
- "UPHENO:0051191",
- "HP:0034359",
- "UPHENO:0051739",
- "UPHENO:0049703",
- "HP:0011036",
- "HP:0002748",
- "UPHENO:0002754",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "GO:0032501",
- "UPHENO:0002803",
- "UPHENO:0005201",
- "UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
- "HP:0010935",
- "UBERON:0004122",
- "CHEBI:24835",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0004503",
- "UPHENO:0002909",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0005172",
- "HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0050106",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:33318",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0002442",
- "HP:0001871",
- "CHEBI:36915",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "UPHENO:0003941",
- "UPHENO:0005285",
- "HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066939",
- "CHEBI:33259",
- "UPHENO:0002554",
- "UPHENO:0004505",
- "UPHENO:0004459",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UBERON:0011676",
- "HP:0001942",
- "GO:0003008",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0001062",
- "BFO:0000003",
- "BFO:0000004",
- "CHEBI:33302",
- "GO:0008152",
- "UPHENO:0002427",
- "UPHENO:0001002",
- "UBERON:0013702",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0000483",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:33675",
- "HP:0010930",
- "HP:0004360",
- "HP:0003011",
- "HP:0001324",
- "HP:0003076",
- "HP:0001939",
- "BFO:0000001",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0001941",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "UBERON:0000174",
- "UBERON:0001474",
- "CHEBI:36360",
- "UBERON:0010000",
- "CHEBI:24431",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0002248",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003430",
- "BFO:0000040",
- "HP:0003155",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:26082",
- "UBERON:0005177",
- "UBERON:0004111",
- "GO:0008150",
- "HP:0000001",
- "UPHENO:0084654",
- "UPHENO:0069266",
- "HP:0011842",
- "UPHENO:0075902",
- "UPHENO:0068511",
- "CHEBI:23367",
- "GO:0042592",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:16541",
- "UPHENO:0004791",
- "HP:0000119",
- "UBERON:0002100",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0075666",
- "UBERON:0000178",
- "HP:0000118",
- "UPHENO:0068054",
- "HP:0010929",
- "UPHENO:0066739",
- "UBERON:0009773",
- "UBERON:0002113",
- "UPHENO:0081544",
- "UPHENO:0034351",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0000064",
- "UPHENO:0002926",
- "UPHENO:0046348",
- "CHEBI:59999",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "CHEBI:33579",
- "UPHENO:0051280",
- "UPHENO:0002536",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "UPHENO:0002832",
- "UPHENO:0081547",
- "UPHENO:0046284",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002568",
- "CHEBI:24870",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
- "HP:0032180",
- "HP:0003110",
- "UBERON:0006555",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0002559",
- "UPHENO:0003093",
- "UPHENO:0002252",
- "UPHENO:0003025",
- "UPHENO:0066951",
- "UPHENO:0076692",
- "UBERON:0000479",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
- "UPHENO:0002385",
- "UBERON:0005173",
- "CHEBI:36916",
- "UBERON:0015212",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "CHEBI:33238",
- "UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000475",
- "UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
- "HP:0000079",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:60004",
- "UPHENO:0024906",
- "CHEBI:35381",
- "HP:0003109",
- "UPHENO:0002269",
- "UPHENO:0002426",
- "UBERON:8450002",
- "UBERON:0000383",
- "UPHENO:0002359",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "UPHENO:0002320",
- "PATO:0000001",
- "UBERON:0001285",
- "UPHENO:0066925",
- "HP:0012591",
- "UPHENO:0048707",
- "UBERON:0000489",
- "UPHENO:0068110",
- "HP:0012599",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "CHEBI:33521",
- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
- "CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "UPHENO:0002964",
- ],
- "has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
"anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
+ "Abnormality of the head",
+ "Abnormal enteric nervous system morphology",
+ "future central nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "fused pedal digit and pedal digit",
+ "ocular surface region morphology phenotype",
+ "decreased length of anatomical structure",
+ "cornea",
+ "abdominal wall",
+ "3-D shape anatomical entity",
+ "external male genitalia",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "orifice",
+ "shape cornea",
+ "multicellular organism development phenotype",
+ "Abnormal eye physiology",
+ "asymmetrically curved anatomical entity",
+ "Dolichocephaly",
+ "common carotid artery plus branches",
+ "drooping eyelid",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "decreased length of bone of pectoral complex",
+ "ventricle of nervous system phenotype",
+ "increased number of anatomical structure",
+ "delayed biological_process",
+ "systemic artery",
+ "organism substance",
+ "Abnormality of body height",
+ "decreased size of the mesoderm-derived structure",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "non-material anatomical boundary",
+ "Abnormality of head or neck",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "lower urinary tract phenotype",
+ "non-connected functional system",
+ "increased number of anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Clinodactyly of the 5th finger",
+ "sense organ",
+ "orbital region",
+ "hypertrophic heart right ventricle",
+ "vasculature phenotype",
+ "Abnormality of the endocrine system",
+ "forelimb",
+ "skeleton of pelvic complex",
+ "anterior segment of eyeball morphology phenotype",
+ "face phenotype",
+ "Abnormal frontal bone morphology",
+ "Abnormality of lower limb joint",
+ "curvature anatomical entity",
+ "increased number of material anatomical entity",
+ "skeletal system",
+ "hindlimb skeleton",
+ "protein-containing material entity",
+ "anatomical entity phenotype",
+ "gamete generation",
+ "organ part phenotype",
+ "male organism",
+ "fused pedal digit and anatomical entity",
+ "Irregular hyperpigmentation",
+ "lateral structure phenotype",
+ "pelvic girdle region",
+ "paired limb/fin segment",
+ "multicellular organism development",
+ "Ventriculomegaly",
+ "urethra",
+ "thoracic segment organ",
+ "Astigmatism",
+ "Abnormal carotid artery morphology",
+ "anterior region of body",
+ "Abnormal reproductive system morphology",
+ "lateral structure physiology phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "upper leg bone",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "asymmetrically curved cornea",
+ "decreased qualitatively reproductive process",
+ "dermal skeletal element phenotype",
+ "neural crest-derived structure",
+ "incomplete closing of the interatrial septum",
+ "epithelial tube formation",
+ "digestive system element phenotype",
+ "brain ventricle morphology phenotype",
+ "Abnormal umbilicus morphology",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormal joint morphology",
+ "transudate",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "multi cell part structure",
+ "vein",
+ "limb long bone morphology phenotype",
+ "bodily fluid",
+ "multi-tissue structure",
+ "facial skeleton morphology phenotype",
+ "limb long bone phenotype",
+ "All",
+ "Abnormal bone structure",
+ "naris phenotype",
+ "lens of camera-type eye morphology phenotype",
+ "nervous system phenotype",
+ "postcranial axial skeletal system",
+ "Clubbing of toes",
+ "arterial system",
+ "bone of pelvic complex morphology phenotype",
+ "kidney morphology phenotype",
+ "dorsum",
+ "nervous system development",
+ "tube formation phenotype",
+ "peripheral nervous system phenotype",
+ "tissue",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
+ "brain ventricle",
+ "future nervous system",
+ "regional part of nervous system phenotype",
+ "Reduced bone mineral density",
+ "circulatory system",
+ "Spina bifida",
+ "embryo development ending in birth or egg hatching",
+ "epithelial tube morphogenesis",
+ "morphogenesis of an epithelium",
+ "appendicular skeleton",
+ "spinal cord",
+ "Abnormal facial skeleton morphology",
+ "multi organ part structure",
+ "increased length of the anatomical line between pupils",
+ "manual digit 1 phalanx",
+ "orifice phenotype",
+ "neocortex morphology phenotype",
+ "gamete",
+ "upper jaw region",
+ "palpebral fissure phenotype",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
+ "Abnormal bone ossification",
+ "Abnormal testis morphology",
+ "deviation of anatomical entity towards the middle",
+ "Abnormal eyelid morphology",
+ "palpebral fissure",
+ "female reproductive organ",
+ "ocular adnexa",
+ "opaque lens of camera-type eye",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "lens of camera-type eye phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "transparent eye structure phenotype",
+ "Cataract",
+ "heart right ventricle",
+ "increased size of the anatomical entity",
+ "lens of camera-type eye",
+ "Atrial septal defect",
+ "drooping anatomical entity",
+ "eyelid phenotype",
+ "large intestine",
+ "Ptosis",
+ "Abnormal cornea morphology",
+ "gland",
+ "clavate digit",
+ "decreased size of the anatomical structure",
+ "shape eyelid",
+ "decreased qualitatively sensory perception",
+ "incomplete closing of the multicellular anatomical structure",
+ "Hydrocephalus",
+ "telencephalon morphology phenotype",
+ "hindlimb morphology phenotype",
+ "anatomical projection",
+ "number of hematopoietic cell phenotype",
+ "Eumetazoa",
+ "phalanx morphology phenotype",
+ "Eukaryota",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "forebrain morphology phenotype",
+ "root",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormality of the male genitalia",
+ "increased size of the organ part",
+ "cellular organisms",
+ "size of skull phenotype",
+ "increased length of the multicellular anatomical structure",
+ "Bicornuate uterus",
+ "regional part of brain phenotype",
+ "limb long bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "size of anatomical entity phenotype",
+ "female reproductive system morphology phenotype",
+ "telencephalon",
+ "cranial skeletal system",
+ "nose",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "tube closure",
+ "ocular adnexa phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autonomic nervous system phenotype",
+ "Abnormality of the abdominal organs",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "Deviation of the 5th finger",
+ "regional part of brain",
+ "regional part of nervous system",
+ "interventricular septum",
+ "increased length of the anatomical line",
+ "ganglion of peripheral nervous system morphology phenotype",
+ "Abnormal midface morphology",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
+ "oral cavity",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "testis",
+ "left cardiac chamber",
+ "Aplasia/Hypoplasia of the testes",
+ "Abnormality of the testis size",
+ "gonad",
+ "palatine uvula morphology phenotype",
+ "Decreased anatomical entity mass density",
+ "embryo",
+ "Absent testis",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "decreased length of forelimb bone",
+ "long bone phenotype",
+ "Abnormality of the outer ear",
+ "number of myeloid cell phenotype",
+ "absent germ cell",
+ "ear morphology phenotype",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "vestibulo-auditory system",
+ "anterior uvea",
"Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
+ "external ear phenotype",
+ "Abnormal cerebral cortex morphology",
+ "forebrain",
+ "increased qualitatively biological_process",
+ "increased size of the non-material anatomical boundary",
+ "incomplete closing of the organ",
+ "Abnormal pinna morphology",
+ "Abnormal ear morphology",
+ "ear",
+ "artery morphology phenotype",
+ "developmental process involved in reproduction phenotype",
+ "male reproductive organ physiology phenotype",
+ "internal male genitalia",
+ "anatomical entity morphology in the brain phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "multi organ part structure phenotype",
+ "increased size of the ventricle of nervous system",
+ "epicanthal fold",
+ "hindlimb long bone",
+ "decreased length of multicellular anatomical structure",
+ "abdomen element phenotype",
+ "increased size of the organ component layer",
+ "Abnormal nasal morphology",
+ "internal male genitalia physiology phenotype",
+ "duodenum morphology phenotype",
+ "Abnormality of the nervous system",
+ "pedal digit digitopodial skeleton",
+ "paralysed cranial nerve",
+ "increased size of the ectoderm-derived structure",
+ "abdomen element physiology phenotype",
+ "increased length of the zone of organ",
+ "absent anatomical structure",
+ "trunk",
+ "manual digit 5 plus metapodial segment",
+ "female reproductive system phenotype",
+ "zone of organ",
+ "skull phenotype",
+ "increased size of the brain ventricle",
+ "increased size of the multicellular anatomical structure",
+ "visual perception phenotype",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "digestive system morphology phenotype",
+ "exocrine gland phenotype",
+ "Decreased fertility",
"Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
+ "exocrine system",
+ "decreased length of forelimb endochondral element",
+ "intromittent organ",
+ "respiratory system morphology phenotype",
+ "gland phenotype",
+ "Abnormality of the liver",
+ "fused anatomical entity and manual digit",
+ "incomplete closing of the roof of mouth",
+ "liver",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Visual impairment",
+ "ulna",
+ "deviation of manual digit towards the middle",
+ "abdomen",
+ "trunk region element phenotype",
+ "Conotruncal defect",
+ "digestive system gland",
+ "musculoskeletal system",
+ "abdominal segment element",
+ "gonad phenotype",
+ "internal ear phenotype",
+ "liver phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "gamete generation phenotype",
+ "subdivision of skeletal system",
+ "hepatobiliary system",
+ "male germ cell",
+ "Aplasia/Hypoplasia of the uvula",
+ "behavior process",
+ "cardiovascular system morphology phenotype",
+ "anterior chamber of eyeball",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "increased size of the right cardiac chamber",
+ "hypothalamus-pituitary axis phenotype",
+ "posterior nasal aperture phenotype",
+ "hypothalamus-pituitary axis",
+ "Abnormal reflex",
+ "hindlimb joint",
+ "anatomical line phenotype",
+ "penis",
+ "increased size of the anatomical line",
+ "tube phenotype",
+ "Hypertelorism",
+ "increased length of the anatomical entity",
+ "anatomical line",
+ "immaterial anatomical entity phenotype",
+ "non-material anatomical boundary phenotype",
+ "increased length of the immaterial anatomical entity",
+ "Decreased multicellular organism mass",
+ "Aplasia/Hypoplasia of the ulna",
+ "intestine",
+ "ectoderm-derived structure phenotype",
+ "immaterial anatomical entity",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "location of eyeball of camera-type eye phenotype",
+ "decreased size of the sense organ",
+ "vessel",
+ "spermatogenesis phenotype",
+ "anatomical entity atresia",
+ "Abnormal spermatogenesis",
+ "absent material anatomical entity in the multicellular organism",
+ "morphogenesis of embryonic epithelium",
+ "haploid cell",
+ "germ line cell",
+ "Cafe-au-lait spot",
+ "gamete phenotype",
+ "absent material anatomical entity",
+ "spermatogenesis",
+ "internal naris",
+ "sperm",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "decreased qualitatively developmental process",
+ "reproductive process phenotype",
+ "male gamete",
+ "prepuce of penis morphology phenotype",
+ "absent gamete",
+ "decreased sensory perception of mechanical stimulus",
+ "iris",
+ "integumental system",
+ "semen",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "decreased gamete generation",
+ "absent anatomical entity in the semen",
+ "subdivision of skeleton phenotype",
+ "male reproductive system physiology phenotype",
+ "conceptus",
+ "decreased multicellular organismal reproductive process",
+ "Abnormal cellular phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "absent anatomical entity",
+ "internal genitalia",
+ "skeleton of pes",
+ "pes morphology phenotype",
+ "organ part morphology in the heart phenotype",
+ "reproduction",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
+ "epithelium",
+ "autopodial skeleton",
+ "outflow tract of ventricle",
+ "increased size of the brain ventricle/choroid plexus",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "Abnormality of the palpebral fissures",
+ "obsolete multicellular organism reproduction",
+ "decreased developmental process",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "multicellular organismal reproductive process phenotype",
+ "Abnormality of the nose",
+ "developmental process involved in reproduction",
+ "sexual reproduction",
+ "male gamete generation",
+ "fused anatomical entity and digit",
+ "hematopoietic system phenotype",
+ "small intestine morphology phenotype",
+ "small intestine",
+ "cavitated compound organ",
+ "Abnormal duodenum morphology",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "Abnormal foot morphology",
+ "Duodenal stenosis",
+ "testis phenotype",
+ "Abnormality of movement",
+ "intestine morphology phenotype",
+ "subdivision of tube phenotype",
+ "increased length of the skin of head",
+ "Azoospermia",
+ "Abnormal small intestine morphology",
+ "clavate anatomical entity",
+ "Hydroureter",
+ "membrane bone phenotype",
+ "Abnormal uterus morphology",
+ "myocardium phenotype",
+ "Abnormal oral morphology",
+ "Choanal atresia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
"continuant",
+ "hindlimb",
+ "Functional abnormality of the inner ear",
+ "pedal digit",
+ "leg",
+ "neoplasm phenotype",
+ "phalanx of pes",
+ "cardiac valve morphology phenotype",
+ "orifice atresia",
+ "digitopodium bone",
+ "phalanx",
+ "Abnormality of the lower limb",
+ "jaw skeleton",
+ "exocrine gland",
+ "hindlimb bone",
+ "phalanx endochondral element",
+ "skeleton of pedal digitopodium",
+ "skeleton of pedal acropodium",
+ "vertebral centrum element",
+ "pelvic appendage skeleton",
+ "pes",
+ "segment of pes",
+ "voluntary movement behavior",
+ "Renal hypoplasia/aplasia",
+ "localised reproductive structure",
+ "digitopodium region",
+ "fused manual digit and manual digit",
+ "pedal digitopodium region",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "lower limb segment",
+ "increased length of the anatomical structure",
+ "pedal digitopodium bone",
+ "prepuce of penis",
+ "concave 3-D shape anatomical entity",
+ "digit morphology phenotype",
+ "pelvic complex",
+ "duodenum",
+ "formed organ subunit",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "joint of girdle morphology phenotype",
+ "Proptosis",
+ "hindlimb stylopod",
+ "lower limb segment phenotype",
+ "pelvic girdle skeleton",
+ "pedal digit morphology phenotype",
+ "posterior region of body",
+ "Abnormal lower limb bone morphology",
+ "incomplete closing of the arch of centrum of vertebra",
+ "renal/urinary system phenotype",
+ "Abnormality of the upper urinary tract",
+ "radius endochondral element",
+ "skin of face morphology phenotype",
+ "Abnormal renal morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal cardiovascular system morphology",
+ "Abnormal ocular adnexa morphology",
+ "cavitated compound organ phenotype",
+ "Abnormal localization of kidney",
+ "Ocular anterior segment dysgenesis",
+ "Abnormal anus morphology",
"compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
+ "decreased functionality of the reproductive organ",
+ "Abnormality of the female genitalia",
+ "cardiac ventricle morphology phenotype",
+ "renal system morphology phenotype",
+ "male reproductive system morphology phenotype",
+ "orbital region phenotype",
+ "Abnormality of the kidney",
+ "neural tube closure phenotype",
+ "kidney",
+ "mouth",
+ "Aplasia/Hypoplasia of the iris",
+ "midface morphology phenotype",
+ "oral cavity morphology phenotype",
+ "morphological feature phenotype",
+ "myocardium morphology phenotype",
+ "incomplete closing of the anatomical structure",
+ "Abnormal oral cavity morphology",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal aortic valve morphology",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "soft palate",
+ "soft palate morphology phenotype",
+ "Abnormal soft palate morphology",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "malformed anatomical entity",
"subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
+ "formed anterior chamber of eyeball",
+ "Abnormal hip joint morphology",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "fused digit and digit",
+ "decreased length of organ",
+ "formed multicellular anatomical structure",
+ "iris phenotype",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "formed anatomical structure",
+ "formed material anatomical entity",
+ "decreased length of mesoderm-derived structure",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "palatine uvula phenotype",
+ "Joint dislocation",
+ "Abnormal uvea morphology",
+ "Abnormality iris morphology",
+ "circulatory organ",
+ "uvea",
+ "anatomical collection",
+ "Macule",
+ "increased biological_process in skin of body",
+ "posterior nasal aperture atresia",
+ "cerebral hemisphere morphology phenotype",
+ "Hypospadias",
+ "fused manual digit and anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "musculature",
+ "Localized skin lesion",
+ "Abnormal 5th finger morphology",
+ "Abnormal thumb morphology",
+ "aplasia or hypoplasia of ulna",
+ "Abnormal size of the palpebral fissures",
+ "autopod region phenotype",
+ "Finger clinodactyly",
+ "anatomical entity morphology in the manus phenotype",
+ "manual digit",
+ "skeleton phenotype",
+ "manus morphology phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "Abnormality of the hand",
+ "bone of hip region",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "amniotic fluid",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "neural crest-derived structure phenotype",
+ "manual digit morphology in the manus phenotype",
+ "decreased pigmentation in skin of body",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia involving the skeleton",
+ "fused digit and anatomical entity",
"anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
- "skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
+ "pelvic girdle bone/zone",
+ "eye movement phenotype",
+ "respiratory system phenotype",
+ "Abnormality of bone mineral density",
+ "brain ventricle/choroid plexus phenotype",
+ "bone element mass density phenotype",
+ "biogenic amine secreting cell",
"ossification",
- "carbohydrate",
- "skeletal system",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "deviation of anatomical entity",
+ "digit 1 or 5",
+ "cranial nerve related reflex",
+ "manual digit 5 morphology phenotype",
+ "manual digit 5",
+ "spatial pattern of anatomical entity phenotype",
+ "digit 1 or 5 phenotype",
+ "digit 5 plus metapodial segment",
+ "digestive system",
+ "decreased length of endochondral bone",
+ "Deviation of the hand or of fingers of the hand",
+ "appendicular skeletal system",
+ "deviation of manual digit 5",
+ "deviation of manual digit",
+ "decreased functionality of the organ part",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "ulna phenotype",
+ "increased height of the secondary palate",
+ "Tetralogy of Fallot",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "genitourinary system",
+ "Limb undergrowth",
+ "decreased size of the forelimb endochondral element",
+ "cardiac ventricle morphology in the heart phenotype",
+ "decreased size of the anatomical entity",
+ "Upper limb undergrowth",
+ "decreased length of material anatomical entity",
+ "decreased length of skeletal element",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the endochondral bone",
+ "Hematological neoplasm",
+ "decreased size of the organ",
+ "ulna hypoplasia",
+ "head bone phenotype",
+ "decreased size of the bone of pectoral complex",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "decreased size of the bone of free limb or fin",
+ "increased response to external stimulus",
+ "forelimb zeugopod bone hypoplasia",
+ "forelimb long bone phenotype",
+ "paired limb/fin skeleton",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "Hypoplasia of the ulna",
+ "decreased size of the bone element",
+ "Short forearm",
+ "decreased length of limb endochondral element",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased size of the bone of appendage girdle complex",
+ "increased length of the zone of skin",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Cardiomyopathy",
+ "flat bone",
+ "pelvic region element",
+ "Hyperpigmentation of the skin",
+ "limb joint",
+ "anatomical conduit atresia",
+ "joint of girdle",
+ "manus phenotype",
+ "hindlimb joint phenotype",
+ "zone of bone organ",
+ "skeletal joint",
+ "articulation phenotype",
+ "Micrognathia",
+ "anatomical entity dislocation",
+ "skeletal joint dislocation",
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 106,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
+ "name": "Fanconi anemia complementation group O",
"full_name": None,
"deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
- "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
+ "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia",
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
- "HP:0001873",
- "HP:0005528",
- "HP:0006254",
- "HP:0003221",
- "HP:0001903",
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0001245",
+ "HP:0003774",
+ "HP:0002984",
+ "HP:0000126",
+ "HP:0000028",
+ "HP:0009778",
+ "HP:0009623",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0003241",
"HP:0004322",
- "HP:0000252",
+ "HP:0002023",
+ "HP:0025023",
],
"has_phenotype_label": [
- "Neutropenia",
- "Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
- "Anemia",
+ "Absent thumb",
+ "Chromosome breakage",
+ "Small thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "Hypoplasia of the radius",
+ "Hydronephrosis",
+ "Cryptorchidism",
+ "Short thumb",
+ "Proximal placement of thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
"Short stature",
- "Microcephaly",
+ "Anal atresia",
+ "Rectal atresia",
],
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "UBERON:0000475",
- "UPHENO:0002926",
- "UPHENO:0002844",
- "UPHENO:0002736",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0080200",
- "UPHENO:0086589",
- "UPHENO:0004704",
- "HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
- "UBERON:0011676",
+ "UBERON:0013522",
+ "UPHENO:0063629",
+ "UPHENO:0002994",
+ "UBERON:0013765",
+ "UPHENO:0074310",
+ "UPHENO:0076735",
+ "HP:0002589",
+ "UPHENO:0074311",
+ "UPHENO:0076783",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UBERON:0001353",
"NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
- "UBERON:0005944",
- "UBERON:0011138",
- "UPHENO:0004521",
- "UBERON:0010314",
- "HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
- "UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
- "HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
+ "UPHENO:0002714",
+ "HP:0002242",
+ "UPHENO:0063615",
+ "HP:0012732",
+ "UPHENO:0076773",
+ "UBERON:0000059",
+ "HP:0002034",
"UBERON:0000481",
- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0080351",
- "CL:0000458",
- "CHEBI:33675",
- "UBERON:0010912",
- "CL:0000151",
- "UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
+ "NCBITaxon:1",
+ "HP:0012718",
+ "UPHENO:0063563",
+ "UBERON:0000160",
+ "UBERON:0006866",
+ "UBERON:0001052",
+ "HP:0011100",
+ "UPHENO:0002725",
+ "UPHENO:0063577",
+ "HP:0004378",
+ "UPHENO:0002548",
+ "UPHENO:0074227",
+ "HP:0034915",
+ "UBERON:0000025",
+ "UPHENO:0076803",
+ "UPHENO:0063594",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "HP:0025033",
+ "UPHENO:0002833",
+ "UPHENO:0074230",
+ "UPHENO:0074245",
+ "UBERON:0001555",
+ "UPHENO:0063562",
+ "UPHENO:0074237",
+ "UPHENO:0000543",
+ "HP:0001507",
+ "HP:0003011",
+ "UBERON:0001630",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "HP:0011425",
+ "UBERON:0008837",
+ "HP:0002250",
+ "UBERON:0034929",
+ "UPHENO:0002655",
+ "HP:0040070",
+ "UPHENO:0050784",
+ "GO:0008150",
+ "UPHENO:0081424",
+ "UPHENO:0003049",
+ "GO:0010558",
+ "HP:0009821",
+ "UPHENO:0004518",
"UPHENO:0049642",
- "HP:0010974",
- "UBERON:0002405",
- "UPHENO:0004503",
+ "UPHENO:0046472",
+ "GO:0009889",
+ "HP:0030680",
+ "NCBITaxon:33208",
+ "HP:0011017",
+ "UPHENO:0002976",
"UPHENO:0050025",
- "UPHENO:0063787",
- "UBERON:0000062",
- "HP:0002060",
- "UBERON:0001062",
- "CHEBI:33285",
- "HP:0000118",
- "UPHENO:0086016",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0087907",
- "UPHENO:0002532",
- "BFO:0000040",
- "GO:0031324",
- "UPHENO:0081581",
- "HP:0001873",
- "HP:0001871",
- "CL:0000255",
- "UPHENO:0049743",
- "CL:0000738",
- "UPHENO:0001001",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0002963",
- "UPHENO:0085344",
- "UBERON:0000479",
- "HP:0011893",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "UPHENO:0002525",
- "HP:0032180",
- "BFO:0000020",
- "HP:0001911",
+ "CL:0000000",
+ "GO:0009890",
+ "UPHENO:0002750",
+ "UPHENO:0081466",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "GO:0010629",
+ "HP:0001626",
+ "GO:0008152",
+ "UPHENO:0004900",
+ "UPHENO:0003057",
+ "BFO:0000015",
"UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "HP:0012639",
- "CL:0000775",
- "HP:0001874",
- "UPHENO:0004459",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0007364",
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- "CL:0000766",
- "HP:0000002",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0000541",
+ "UPHENO:0080351",
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
+ "Opisthokonta",
+ "Anorectal anomaly",
+ "rectum morphology phenotype",
+ "Abnormal intestine morphology",
+ "Rectal atresia",
+ "closing of the organ part",
+ "intestine morphology phenotype",
+ "intestine atresia",
+ "anatomical system atresia",
+ "subdivision of digestive tract atresia",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "rectum atresia",
+ "organism",
+ "digestive system element",
+ "internal anal region",
"cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
+ "Abnormal gastrointestinal tract morphology",
+ "organ part atresia",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
"Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
+ "alimentary part of gastrointestinal system",
+ "alimentary part of gastrointestinal system atresia",
+ "anus",
+ "material anatomical entity atresia",
+ "closing of the anatomical structure",
+ "digestive system phenotype",
+ "digestive tract",
+ "closing of the anatomical conduit",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "Abnormal anus morphology",
+ "ectoderm-derived structure phenotype",
+ "orifice",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "orifice phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal digestive system morphology",
"root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "Abnormality of the digestive system",
+ "closing of the ectoderm-derived structure",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "palmar/plantar part of autopod",
+ "anal region",
+ "muscle structure",
+ "large intestine",
+ "material anatomical entity",
+ "Abnormal skeletal muscle morphology",
+ "arm phenotype",
+ "thoracic cavity element",
+ "pectoral appendage musculature",
+ "musculature of upper limb",
+ "regulation of cellular metabolic process",
+ "subdivision of tube phenotype",
+ "musculature of limb phenotype",
+ "independent continuant",
+ "subdivision of skeletal system",
+ "entity",
+ "forelimb zeugopod bone morphology phenotype",
+ "autopod region morphology phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "reproductive system",
+ "muscle organ",
+ "musculature of pectoral complex",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "cell phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "cell",
+ "Abnormality of the upper limb",
+ "skeletal element",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "zeugopod",
+ "regulation of biosynthetic process phenotype",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Abnormality of chromosome stability",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "increased size of the renal pelvis",
+ "homeostatic process",
+ "appendage girdle complex",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
"organ phenotype",
+ "decreased length of manual digit",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "dilated renal pelvis",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "localised testis",
+ "musculoskeletal system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "decreased length of endochondral bone",
"Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
- "regional part of brain",
- "central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
"Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Abnormality of the urinary system physiology",
+ "bone element phenotype",
+ "pectoral complex",
+ "multi-limb segment region phenotype",
+ "regulation of macromolecule metabolic process",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "closing of the subdivision of tube",
+ "skeleton of limb",
"negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
+ "decreased size of the autopodial extension",
+ "musculature of manus",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "orifice atresia",
+ "appendicular skeleton",
+ "upper limb segment",
+ "external soft tissue zone phenotype",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "embryo phenotype",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "Anal atresia",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "thenar eminence hypoplasia",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "palmar part of manus",
+ "Abnormal large intestine morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "trunk region element physiology phenotype",
+ "male reproductive organ phenotype",
+ "autopodial extension phenotype",
+ "manual digit",
+ "Abnormal cardiovascular system morphology",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "late embryo phenotype",
+ "regulation of cellular process phenotype",
+ "forelimb zeugopod",
+ "Abnormal appendicular skeleton morphology",
+ "multicellular organism",
+ "regulation of macromolecule biosynthetic process",
+ "muscle organ morphology phenotype",
+ "autopod region phenotype",
"material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "Hypoplasia of the radius",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "regulation of biological process",
+ "digit 1 phenotype",
+ "lateral structure",
+ "mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "closing of the multicellular anatomical structure",
+ "organ system subdivision",
+ "thenar eminence phenotype",
+ "musculature",
+ "Abnormality of the thenar eminence",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical conduit phenotype",
+ "taxon specific phenotype",
+ "Abnormal rectum morphology",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "musculature of limb",
+ "Abnormal cellular physiology",
+ "cardiovascular system",
+ "male reproductive system phenotype",
+ "aplastic manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "lower digestive tract",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of digestive tract",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "renal pelvis",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "system",
+ "regulation of gene expression phenotype",
+ "bone of appendage girdle complex phenotype",
+ "Abnormality of prenatal development or birth",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "forelimb skeleton",
+ "genitourinary system",
+ "renal pelvis phenotype",
+ "anatomical entity",
"phenotypic effect",
- "number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
+ "size of anatomical entity phenotype",
+ "Proximal placement of thumb",
+ "alimentary part of gastrointestinal system phenotype",
+ "pectoral appendage skeleton",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "manus",
+ "thenar eminence",
+ "Abnormality of limbs",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "multicellular organism morphology phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the musculature of the limbs",
+ "anatomical structure physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical conduit atresia",
+ "Deviation of finger",
+ "Abnormality of the skeletal system",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "Abnormal renal pelvis morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "Short stature",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "Abnormality of the musculature",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "thoracic segment of trunk",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent organism subdivision",
+ "autopod region",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "decreased length of mesoderm-derived structure",
"negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
+ "abdominal segment element",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Deviation of the thumb",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "absent anatomical entity",
+ "process",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
"biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
+ "intestine phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "limb segment phenotype",
+ "digit 1 or 5 phenotype",
+ "digestive system",
+ "anatomical entity morphology phenotype",
+ "obsolete cell",
+ "decreased length of long bone",
+ "programmed DNA elimination",
+ "spatial pattern of anatomical entity phenotype",
+ "subdivision of tube atresia",
+ "multi-limb segment region",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "musculature of pectoral complex phenotype",
+ "decreased length of anatomical structure",
+ "musculature of manus phenotype",
+ "trunk",
+ "Abnormality of the musculature of the hand",
+ "appendage musculature",
+ "manus morphology phenotype",
+ "musculature of upper limb phenotype",
+ "Abnormality of the musculature of the upper limbs",
+ "compound organ physiology phenotype",
+ "Small thenar eminence",
+ "abdomen element physiology phenotype",
+ "pectoral appendage musculature phenotype",
+ "digit 1 plus metapodial segment",
+ "Abnormal renal physiology",
+ "Intestinal atresia",
+ "arm bone",
+ "kidney physiology phenotype",
+ "radius endochondral element",
+ "anatomical system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "localised anatomical structure",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "cavitated compound organ physiology phenotype",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "Chronic kidney disease",
+ "renal system phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "body proper",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "male organism",
+ "renal system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "Renal insufficiency",
+ "Abnormality of the kidney",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the cardiovascular system",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "absent autopodial extension",
+ "Fetal ultrasound soft marker",
+ "closing of the material anatomical entity",
+ "circulatory system",
"subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "lateral structure physiology phenotype",
+ "renal system",
+ "digestive system morphology phenotype",
+ "Abnormality of the urinary system",
+ "renal/urinary system phenotype",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "upper urinary tract phenotype",
+ "decreased length of digit 1 or 5",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "testis phenotype",
+ "negative regulation of biosynthetic process",
"material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
+ "long bone",
+ "structure with developmental contribution from neural crest",
+ "Abnormality of the hand",
+ "radius bone",
+ "heart",
+ "Limb undergrowth",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
"decreased size of the material anatomical entity",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "Hydronephrosis",
+ "decreased length of organism subdivision",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormal testis morphology",
+ "cardiovascular system phenotype",
+ "decreased size of the bone of free limb or fin",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased size of the limb bone",
"multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
+ "limb long bone phenotype",
+ "forelimb zeugopod bone",
+ "decreased length of manual digit 1 or 5",
+ "decreased length of multicellular anatomical structure",
+ "kidney",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "appendage musculature phenotype",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "bone of pectoral complex morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "organ",
+ "decreased size of the anatomical structure",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased size of the endochondral element",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "deviation of anatomical entity",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "increased size of the anatomical structure",
+ "primary circulatory organ",
+ "localised organ",
+ "thoracic segment organ",
+ "renal pelvis/ureter",
"phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
+ "Fetal pyelectasis",
+ "embryonic development/birth phenotype",
+ "Abnormal fetal genitourinary system morphology",
+ "organ part",
+ "external genitalia phenotype",
"multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "Abnormal renal morphology",
+ "increased size of the organ part",
+ "Fetal anomaly",
+ "renal pelvis morphology phenotype",
+ "anatomical cluster",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "decreased length of digit",
+ "anatomical conduit",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Dilatation of the renal pelvis",
+ "Gastrointestinal atresia",
+ "late embryo",
+ "limb",
+ "increased size of the anatomical entity",
+ "increased size of the material anatomical entity",
"biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
- "oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
- "erythroid lineage cell",
+ "genitourinary system phenotype",
+ "dilated anatomical entity",
+ "embryo",
+ "increased size of the anatomical conduit",
+ "anus atresia",
+ "Short long bone",
+ "reproductive organ",
+ "Abnormal fetal morphology",
+ "increased size of the multicellular anatomical structure",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the genital system",
+ "testis",
+ "large intestine morphology phenotype",
+ "localised reproductive structure",
+ "reproductive system phenotype",
+ "Cryptorchidism",
+ "heart plus pericardium",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "reproductive structure phenotype",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "external genitalia",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "gonad phenotype",
+ "reproductive structure",
"decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
+ "localised anatomical entity",
+ "external male genitalia phenotype",
+ "decreased size of the organism subdivision",
+ "anterior region of body",
+ "decreased length of manual digit 1",
+ "rectum phenotype",
+ "paired limb/fin",
+ "decreased size of the digit",
+ "Short thumb",
+ "Short digit",
+ "decreased size of the forelimb bone",
+ "deviation of manual digit 1",
+ "Abnormal morphology of the radius",
+ "Deviation of the hand or of fingers of the hand",
+ "deviation of manual digit",
"Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
+ "cardiovascular system morphology phenotype",
+ "decreased size of the skeletal element",
+ "reproductive organ phenotype",
+ "viscus",
+ "circulatory organ",
+ "heart morphology phenotype",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "tube",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "arm bone phenotype",
"delayed growth",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased size of the multicellular organism",
+ "regulation of cellular process",
+ "decreased height of the anatomical entity",
+ "growth phenotype",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0012565",
+ "id": "MONDO:0013499",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group N",
+ "name": "Fanconi anemia complementation group P",
"full_name": None,
"deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.",
- "xref": ["DOID:0111094", "GARD:15500", "MEDGEN:372133", "MESH:C563657", "OMIM:610832", "UMLS:C1835817"],
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
+ "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCN",
- "Fanconi Anemia, complementation group type N",
- "Fanconi anaemia caused by mutation in PALB2",
- "Fanconi anaemia complementation group type N",
- "Fanconi anemia caused by mutation in PALB2",
- "Fanconi anemia complementation group N",
- "Fanconi anemia complementation group type N",
- "Fanconi anemia, complementation group N",
- "PALB2 Fanconi anaemia",
- "PALB2 Fanconi anemia",
+ "FANCP",
+ "Fanconi Anemia, complementation group type P",
+ "Fanconi anaemia caused by mutation in SLX4",
+ "Fanconi anaemia caused by mutation in Slx4",
+ "Fanconi anaemia complementation group type P",
+ "Fanconi anemia caused by mutation in SLX4",
+ "Fanconi anemia caused by mutation in Slx4",
+ "Fanconi anemia complementation group type P",
+ "Fanconi anemia, complementation group P",
+ "SLX4 Fanconi anaemia",
+ "SLX4 Fanconi anemia",
+ "Slx4 Fanconi anaemia",
+ "Slx4 Fanconi anemia",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0009777",
+ "HP:0002860",
+ "HP:0000252",
"HP:0002984",
- "HP:0002885",
- "HP:0001631",
+ "HP:0000581",
+ "HP:0001876",
+ "HP:0000347",
+ "HP:0000028",
"HP:0009778",
+ "HP:0001510",
"HP:0000125",
- "HP:0002667",
- "HP:0009777",
- "HP:0000568",
- "HP:0004808",
- "HP:0001518",
- "HP:0001915",
- "HP:0000470",
+ "HP:0000414",
+ "HP:0000957",
+ "HP:0001903",
+ "HP:0012745",
+ "HP:0000085",
"HP:0003221",
- "HP:0000252",
- "HP:0003006",
- "HP:0008897",
- "HP:0000953",
- "HP:0000316",
+ "HP:0004322",
+ "HP:0000365",
+ "HP:0001045",
+ ],
+ "has_phenotype_label": [
+ "Absent thumb",
+ "Squamous cell carcinoma",
+ "Microcephaly",
+ "Hypoplasia of the radius",
+ "Blepharophimosis",
+ "Pancytopenia",
+ "Micrognathia",
+ "Cryptorchidism",
+ "Short thumb",
+ "Growth delay",
+ "Pelvic kidney",
+ "Bulbous nose",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Short palpebral fissure",
+ "Horseshoe kidney",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Short stature",
+ "Hearing impairment",
+ "Vitiligo",
+ ],
+ "has_phenotype_closure": [
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- ],
- "has_phenotype_label": [
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- "Medulloblastoma",
- "Atrial septal defect",
- "Short thumb",
- "Pelvic kidney",
- "Nephroblastoma",
- "Absent thumb",
- "Microphthalmia",
- "Acute myeloid leukemia",
- "Small for gestational age",
- "Aplastic anemia",
- "Short neck",
- "Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Neuroblastoma",
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- "Hyperpigmentation of the skin",
- "Hypertelorism",
- "Cafe-au-lait spot",
- "Ventricular septal defect",
- "Horseshoe kidney",
- "Ectopic kidney",
- "Unilateral renal agenesis",
- "Anal atresia",
- "Epicanthus",
- ],
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+ "has_phenotype_closure_label": [
+ "ear",
+ "sensory perception",
+ "sense organ physiology phenotype",
+ "decreased nervous system process",
+ "decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "material anatomical entity physiology phenotype",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "multicellular organismal process",
+ "decreased sensory perception of sound",
+ "decreased qualitatively system process",
+ "nervous system process phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "multicellular organismal process phenotype",
+ "sensory perception phenotype",
+ "Hearing abnormality",
+ "system process",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "multicellular anatomical structure physiology phenotype",
+ "ear physiology phenotype",
+ "vestibulo-auditory system",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
+ "nervous system process",
+ "Hearing impairment",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
+ "size of multicellular organism phenotype",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Abnormal cellular physiology",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "3-D shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "shape anatomical entity",
+ "Horseshoe kidney",
+ "decreased size of the anatomical conduit",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased sensory perception",
+ "decreased length of orifice",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "biological_process rate phenotype",
+ "pigmentation",
+ "increased qualitatively biological_process",
+ "Localized skin lesion",
+ "Hypermelanotic macule",
+ "Hyperpigmentation of the skin",
+ "regulation of cellular metabolic process",
+ "pigmentation phenotype",
+ "Cafe-au-lait spot",
+ "Macule",
+ "nose phenotype",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the nose",
+ "nose",
+ "increased size of the organ",
+ "olfactory organ",
+ "immaterial anatomical entity",
+ "external nose morphology phenotype",
+ "increased size of the sense organ",
+ "Abnormal nasal tip morphology",
+ "nose tip morphology phenotype",
+ "increased size of the anatomical structure",
+ "external nose",
+ "increased size of the organism subdivision",
+ "sense organ phenotype",
+ "Abnormality of chromosome stability",
+ "immaterial entity",
+ "increased volume of nose",
+ "Abnormal external nose morphology",
+ "upper urinary tract phenotype",
+ "abdomen element phenotype",
+ "renal system",
+ "excretory system",
+ "trunk",
+ "abdominal segment element",
+ "Abnormality of the kidney",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "compound organ phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "localised trunk region element",
+ "Abnormal localization of kidney",
+ "cavitated compound organ phenotype",
+ "renal system phenotype",
+ "Abnormal renal morphology",
+ "Abnormality of the upper urinary tract",
+ "abdomen element",
+ "process",
+ "occurrent",
+ "growth phenotype",
+ "kidney",
+ "Growth delay",
+ "delayed biological_process",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "decreased length of digit 1",
+ "Short digit",
+ "decreased length of manual digit 1 or 5",
+ "Short thumb",
+ "decreased length of manual digit",
+ "decreased size of the organism subdivision",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "multicellular organism phenotype",
+ "decreased length of anatomical conduit",
+ "external genitalia phenotype",
+ "Abnormal external genitalia",
+ "localised testis",
+ "external male genitalia phenotype",
+ "male reproductive organ phenotype",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "reproductive structure",
+ "localised material anatomical entity",
+ "genitourinary system",
+ "reproductive system",
+ "gonad phenotype",
+ "reproductive system phenotype",
+ "external genitalia",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "localised male reproductive organ",
+ "localised organ",
+ "multicellular organism morphology phenotype",
+ "sensory system",
+ "craniocervical region phenotype",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "Growth abnormality",
+ "axial skeletal system",
+ "head phenotype",
+ "skeleton phenotype",
+ "organism",
+ "Neoplasm of the skin",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "decreased length of bone of pectoral complex",
+ "nose tip",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region",
+ "Abnormal morphology of the radius",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased multicellular organismal process",
+ "root",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "forebrain morphology phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "central nervous system morphology phenotype",
+ "Abnormality of the nervous system",
+ "anatomical conduit phenotype",
+ "postcranial axial skeleton",
+ "number of hematopoietic cell phenotype",
+ "nervous system phenotype",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "anatomical conduit",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "Eumetazoa",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "Neoplasm",
+ "ectoderm-derived structure phenotype",
+ "skin of body phenotype",
+ "negative regulation of metabolic process",
+ "shape kidney",
+ "manual digit 1 or 5",
+ "nervous system morphology phenotype",
+ "digit 1 phenotype",
+ "digit phenotype",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "visual system",
+ "kidney morphology phenotype",
+ "postcranial axial skeletal system",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "subdivision of skeletal system phenotype",
+ "renal system morphology phenotype",
+ "radius bone morphology phenotype",
+ "Abnormal myeloid cell morphology",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "facial skeleton",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "membrane bone phenotype",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "endochondral bone phenotype",
+ "absent material anatomical entity in the limb",
+ "dermal bone",
+ "size of anatomical entity phenotype",
+ "Abnormality of skin pigmentation",
+ "bone of jaw phenotype",
+ "phenotypic effect",
+ "autopod region morphology phenotype",
+ "cellular organisms",
+ "number of cell phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "mouth",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "Bulbous nose",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
+ "anterior region of body",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "decreased number of anatomical structure",
+ "head bone phenotype",
+ "skeleton of pectoral complex",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "decreased length of endochondral bone",
+ "compound organ",
+ "eye",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "decreased size of the palpebral fissure",
+ "cranial skeletal system",
+ "multicellular anatomical structure phenotype",
+ "bone element phenotype",
+ "dermatocranium",
+ "pectoral complex",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "head",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "forebrain",
+ "regional part of brain phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "orbital region phenotype",
+ "skeleton of limb",
+ "skin of body morphology phenotype",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "integument phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "bone marrow cell",
+ "bone of pectoral complex phenotype",
+ "increased size of the ectoderm-derived structure",
+ "localised kidney",
+ "absent anatomical structure",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "appendicular skeleton",
+ "upper limb segment",
+ "arm phenotype",
+ "hematopoietic system",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "anatomical system phenotype",
+ "sense organ",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "skeleton of manus",
+ "musculoskeletal system",
+ "Aplasia/Hypoplasia of facial bones",
+ "phenotype",
+ "Abnormal cell morphology",
+ "head bone morphology phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "autopodial extension phenotype",
+ "manual digit",
+ "subdivision of trunk",
+ "Abnormal thumb morphology",
+ "continuant",
+ "entire sense organ system",
+ "absent material anatomical entity in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "limb segment phenotype",
+ "Abnormal cerebral morphology",
+ "arm bone",
+ "absent organism subdivision in the multicellular organism",
+ "autopod region phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "motile cell",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "Hypoplasia of the radius",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "decreased size of the ectoderm-derived structure",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of the mandible",
+ "mesoderm-derived structure phenotype",
+ "neoplasm phenotype",
+ "aplasia or hypoplasia of mandible",
+ "bone element",
+ "intramembranous bone phenotype",
+ "lateral structure",
+ "Squamous cell carcinoma",
+ "mesoderm-derived structure",
+ "organ system subdivision",
+ "erythrocyte",
+ "musculature",
+ "regional part of brain",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "forelimb endochondral element",
+ "Abnormality of the skin",
+ "paired limb/fin phenotype",
+ "taxon specific phenotype",
+ "regional part of nervous system phenotype",
+ "skeletal element",
+ "regulation of biosynthetic process phenotype",
+ "zeugopod",
+ "absent manual digit",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "nose morphology phenotype",
+ "Pelvic kidney",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "independent continuant",
+ "facial skeleton morphology phenotype",
+ "aplastic manual digit 1",
+ "dentary",
+ "anatomical entity morphology in the manus phenotype",
+ "segment of autopod",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "limb bone morphology phenotype",
+ "palpebral fissure",
+ "decreased size of the forelimb endochondral element",
+ "bone element hypoplasia in face",
+ "Abnormal forebrain morphology",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "size of skull phenotype",
+ "Abnormal facial skeleton morphology",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone cell",
+ "bone of appendage girdle complex phenotype",
+ "structure with developmental contribution from neural crest",
+ "bone of craniocervical region",
+ "abdomen",
+ "manual digit 1 plus metapodial segment",
+ "dermal skeletal element phenotype",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "Abnormal digit morphology",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "pectoral appendage skeleton",
+ "Vitiligo",
+ "Short palpebral fissure",
+ "decreased size of the limb endochondral element",
+ "acropodium region",
+ "bone marrow",
+ "dermal skeletal element",
+ "subdivision of organism along main body axis",
+ "kidney phenotype",
+ "skeletal system morphology phenotype",
+ "manus",
+ "increased size of the material anatomical entity",
+ "increased size of the anatomical entity",
+ "limb",
+ "Neoplasm by anatomical site",
+ "Abnormality of the upper limb",
+ "Abnormality of limbs",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "body proper",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Microcephaly",
+ "multi-tissue structure phenotype",
+ "Abnormality of the musculoskeletal system",
+ "increased size of the nose",
+ "Abnormal cellular immune system morphology",
+ "absent multicellular anatomical structure in the limb",
+ "digit morphology phenotype",
+ "Abnormality of the ocular adnexa",
+ "decreased number of cell",
+ "Micrognathia",
+ "Abnormal mandible morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "Hypoplastic facial bones",
+ "Abnormal axial skeleton morphology",
+ "erythroid lineage cell",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "absent organism subdivision",
+ "skeleton",
+ "immune system phenotype",
+ "anatomical collection phenotype",
+ "quality",
+ "decreased number of platelet",
+ "organ physiology phenotype",
+ "Abnormal nasal morphology",
+ "absent anatomical entity in the multicellular organism",
+ "absent autopodial extension",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "bone of appendage girdle complex",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "digit 1 plus metapodial segment",
+ "telencephalon morphology phenotype",
+ "integumental system",
+ "absent anatomical entity",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "musculature phenotype",
+ "aplasia or hypoplasia of skull",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "digit 1 or 5 phenotype",
+ "telencephalon",
+ "multi-limb segment region",
+ "regulation of gene expression phenotype",
+ "system",
+ "brain morphology phenotype",
+ "Abnormality of the integument",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "brain",
+ "regional part of nervous system",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "facial bone hypoplasia",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "decreased number of hematopoietic cell",
+ "skeleton of lower jaw",
+ "Abnormal brain morphology",
+ "testis phenotype",
+ "mandible",
+ "location of anatomical entity phenotype",
+ "limb skeleton subdivision",
+ "skull",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "primary subdivision of cranial skeletal system",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "increased biological_process in skin of body",
+ "localised anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "Anemia",
+ "Abnormality of the hand",
+ "radius bone",
+ "Limb undergrowth",
+ "radius endochondral element",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "camera-type eye",
+ "decreased length of skeletal element",
+ "Abnormality of the orbital region",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "forelimb zeugopod",
+ "decreased size of the bone of pectoral complex",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormality of the immune system",
+ "regulation of macromolecule biosynthetic process",
+ "multicellular organism",
+ "Thrombocytopenia",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased length of anatomical structure",
+ "renal/urinary system phenotype",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "axial skeleton plus cranial skeleton",
+ "decreased size of the limb bone",
+ "oxygen accumulating cell",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "appendage girdle complex",
+ "subdivision of head",
+ "decreased length of multicellular anatomical structure",
+ "digestive system element",
+ "radius bone phenotype",
+ "Abnormality of the head",
+ "multi organ part structure phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "decreased length of mesoderm-derived structure",
+ "decreased length of forelimb zeugopod bone",
+ "size of palpebral fissure phenotype",
+ "forelimb bone phenotype",
+ "Short forearm",
+ "regulation of cellular biosynthetic process phenotype",
+ "subdivision of digestive tract",
+ "decreased length of material anatomical entity",
+ "neural crest-derived structure",
+ "digestive system element phenotype",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "decreased size of the forelimb bone",
+ "Abnormal size of the palpebral fissures",
+ "delayed growth",
+ "arm bone phenotype",
+ "sensory perception of mechanical stimulus",
+ "skin of body",
+ "Abnormal upper limb bone morphology",
+ "decreased size of the arm bone",
+ "Abnormality of the genitourinary system",
+ "blood cell",
+ "head bone",
+ "decreased size of the bone of appendage girdle complex",
+ "bone of craniocervical region phenotype",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "increased volume of anatomical entity",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "membrane bone",
+ "bone of pectoral complex morphology phenotype",
+ "organ",
+ "decreased size of the anatomical structure",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "olfactory organ phenotype",
+ "reproductive organ",
+ "Short long bone",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "face morphology phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "dermal skeleton",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "multi organ part structure",
+ "multi-limb segment region phenotype",
+ "hemolymphoid system",
+ "male reproductive organ",
+ "disconnected anatomical group",
+ "eyelid morphology phenotype",
+ "orifice phenotype",
+ "palpebral fissure phenotype",
+ "non-connected functional system",
+ "orifice",
+ "decreased size of the endochondral element",
+ "orbital region",
+ "Blepharophimosis",
+ "face phenotype",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the palpebral fissures",
+ "ocular adnexa phenotype",
+ "Abnormal eyelid morphology",
+ "Abnormal ocular adnexa morphology",
+ "decreased system process",
+ "organ part",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "eyelid",
+ "ocular adnexa",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "Abnormality of the face",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "reproductive structure phenotype",
+ "nucleate cell",
+ "eukaryotic cell",
+ "craniofacial/craniocervical phenotype",
+ "serotonin secreting cell",
+ "anatomical point",
+ "decreased number of anatomical entity",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "decreased length of long bone",
+ "anatomical entity morphology phenotype",
+ "digestive system",
+ "platelet",
+ "Ectopic kidney",
+ "immune system morphology phenotype",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
+ "Abnormal cellular phenotype",
+ "integument",
+ "platelet phenotype",
+ "number of myeloid cell phenotype",
+ "number of platelet phenotype",
+ "Abnormal immune system morphology",
+ "decreased number of material anatomical entity",
+ "decreased number of myeloid cell",
+ "decreased size of the multicellular organism",
+ "Abnormality of skull size",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormal bone marrow cell morphology",
+ "digestive system phenotype",
+ "Abnormal platelet count",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "limb bone phenotype",
+ "secretory cell",
+ "hematopoietic system phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "tissue",
+ "leukocyte",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "upper urinary tract",
+ "decreased length of digit",
+ "Abnormality of the male genitalia",
+ "manual digitopodium region",
+ "Abnormality of blood and blood-forming tissues",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "decreased length of organism subdivision",
+ "bone of lower jaw",
+ "mandible hypoplasia",
+ "anatomical structure physiology phenotype",
+ "facial bone phenotype",
+ "Abnormality of the digestive system",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "digestive system morphology phenotype",
+ "decreased size of the autopodial extension",
+ "Abnormal jaw morphology",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "increased size of the olfactory organ",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "cell phenotype",
+ "anatomical entity hypoplasia in face",
+ "skull phenotype",
+ "Abnormal digestive system morphology",
+ "decreased length of limb endochondral element",
+ "dentary phenotype",
+ "jaw skeleton morphology phenotype",
+ "digestive tract",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "bone of jaw",
+ "manus morphology phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "biological_process",
+ "genitourinary system phenotype",
+ "mouth morphology phenotype",
+ "neural crest-derived structure phenotype",
+ "decreased size of the orifice",
+ "immune system",
+ "facial bone",
+ "gonad",
+ "localised gonad",
+ "Upper limb undergrowth",
+ "Abnormality of thrombocytes",
+ "jaw skeleton",
+ "lateral structure phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "mandible phenotype",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "mandible morphology phenotype",
+ "bone of lower jaw phenotype",
+ "Abnormality of body height",
+ "tube",
+ "mouth phenotype",
+ "localised abdominal segment element",
+ "primary subdivision of skull",
+ "absent anatomical structure in the limb",
+ "dermal bone phenotype",
+ "subdivision of tube phenotype",
+ "Abnormal oral morphology",
+ "cell",
+ "Abnormality of the mouth",
+ "lower jaw region",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "jaw region",
+ "localised anatomical structure",
+ "Abnormal reproductive system morphology",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "intramembranous bone",
+ "Abnormality of the genital system",
+ "testis",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "Cryptorchidism",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "male reproductive system",
+ ],
+ "has_phenotype_count": 20,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0024525",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 1",
+ "full_name": None,
+ "deprecated": None,
+ "description": None,
+ "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0001942",
+ "HP:0003648",
+ "HP:0003155",
+ "HP:0002148",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0002900",
+ "HP:0002748",
+ "HP:0034359",
+ "HP:0003076",
+ "HP:0000083",
+ "HP:0003355",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Metabolic acidosis",
+ "Lacticaciduria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Hypokalemia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0002359",
+ "HP:0003011",
+ "UPHENO:0080555",
+ "HP:0001324",
+ "HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:37622",
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+ ],
+ "has_phenotype_closure_label": [
+ "decreased muscle organ strength",
+ "muscle structure physiology phenotype",
+ "muscle structure phenotype",
+ "Abnormality of the musculature",
+ "muscle organ physiology phenotype",
+ "muscle organ",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "growth",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Renal insufficiency",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "organooxygen compound",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal absorption",
+ "renal absorption phenotype",
+ "Abnormality of renal excretion",
+ "renal system process",
+ "cation",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "carbon oxoacid",
+ "Abnormal blood potassium concentration",
+ "role bodily fluid level phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "potassium atom level phenotype",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "protein",
+ "macromolecule",
+ "organic molecular entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "heteroatomic molecular entity",
+ "tube phenotype",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "organic amino compound",
+ "material entity",
+ "Abnormality of alkaline phosphatase level",
+ "excretory system",
+ "abdomen element phenotype",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "polyatomic entity",
+ "racemate",
+ "renal system physiology phenotype",
+ "rac-lactic acid",
+ "amide",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "chemical substance",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "renal system phenotype",
+ "metal atom",
+ "Abnormality of the urinary system physiology",
+ "increased level of chemical entity in urine",
+ "increased urine role level",
+ "decreased anatomical entity strength",
+ "mixture",
+ "epithelial tube",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "chemical entity",
+ "Short stature",
+ "inorganic molecular entity",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "increased level of chemical entity",
+ "inorganic cation",
+ "alkali metal atom",
+ "bone element mass density phenotype",
+ "Abnormal blood cation concentration",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "Abnormal skeletal morphology",
+ "skeletal system phenotype",
+ "carbon group molecular entity",
+ "main group molecular entity",
+ "Elevated circulating alkaline phosphatase concentration",
+ "protein polypeptide chain",
+ "system process phenotype",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "skeletal element",
+ "cavitated compound organ",
+ "mesoderm-derived structure",
+ "Abnormal urinary electrolyte concentration",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "Abnormal muscle physiology",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "Abnormal enzyme concentration or activity",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
+ "Abnormality of the musculoskeletal system",
+ "musculature of body",
+ "Abnormal bone structure",
+ "anatomical system",
+ "role urine level phenotype",
+ "muscle structure",
+ "material anatomical entity",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "multicellular organismal process phenotype",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "main group element atom",
+ "Abnormal renal tubular resorption",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "Hypokalemia",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "Reduced bone mineral density",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "Abnormality of the skeletal system",
+ "Impaired renal tubular reabsorption of phosphate",
+ "hematopoietic system",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "protein-containing molecular entity",
+ "tissue phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "Abnormal circulating enzyme concentration or activity",
+ "organism subdivision",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "process",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "Lacticaciduria",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "decreased size of the anatomical entity",
+ "blood",
+ "heteroorganic entity",
+ "multicellular organismal process",
+ "Muscle weakness",
+ "organ part",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "anatomical entity height phenotype",
+ "atom",
+ "carbohydrate",
+ "biological_process",
+ "renal tubule",
+ "nitrogen molecular entity",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
+ "musculoskeletal system",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "excretory tube phenotype",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "homeostatic process phenotype",
+ "trunk region element physiology phenotype",
+ "material anatomical entity physiology phenotype",
+ "urine phosphate level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "information biomacromolecule",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "organic acid",
+ "ossification",
+ "Abnormal circulating metabolite concentration",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "organ physiology phenotype",
+ "main body axis",
+ "organism substance",
+ "Rickets",
+ "hemolymphoid system",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "decreased functionality of the epithelial tube",
+ "haemolymphatic fluid",
+ "phosphate",
+ "primary amide",
+ "elemental molecular entity",
+ "ion",
+ "increased level of rac-lactic acid in urine",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
+ "hematopoietic system phenotype",
+ "quality",
+ "phosphoric acid derivative",
+ "Abnormal urine carboxylic acid level",
+ "system process",
+ "decreased level of chemical entity",
+ "decreased level of chemical entity in blood",
+ "genitourinary system phenotype",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "trunk",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate level phenotype",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "monoatomic entity",
+ "subdivision of trunk",
+ "decreased functionality of the nephron tubule",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "kidney physiology phenotype",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
+ "lateral structure",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "epithelium",
+ "decreased functionality of the tube",
+ "Abnormality of the upper urinary tract",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "abdominal segment of trunk",
+ "abdomen",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
+ "excretory tube",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "renal system process phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "kidney",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "s-block element atom",
+ "musculature",
+ "decreased role blood level",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "role blood level phenotype",
+ "monovalent inorganic cation",
+ ],
+ "has_phenotype_count": 16,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0014985",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group V",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "FANCV",
+ "Fanconi Anemia, complementation Group 5",
+ "Fanconi Anemia, complementation group V",
+ "Fanconi Anemia, complementation group type V",
+ "Fanconi anaemia caused by mutation in MAD2L2",
+ "Fanconi anaemia complementation group type V",
+ "Fanconi anemia caused by mutation in MAD2L2",
+ "Fanconi anemia complementation group type V",
+ "Fanconi anemia, complementation GROUP V",
+ "MAD2L2 Fanconi anaemia",
+ "MAD2L2 Fanconi anemia",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001875",
+ "HP:0000252",
+ "HP:0001873",
+ "HP:0005528",
+ "HP:0006254",
+ "HP:0003221",
+ "HP:0001903",
+ "HP:0004322",
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Microcephaly",
+ "Thrombocytopenia",
+ "Bone marrow hypocellularity",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Anemia",
+ "Short stature",
+ ],
+ "has_phenotype_closure": [
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+ "HP:0001873",
+ "UBERON:0007811",
+ "HP:0000234",
+ "UPHENO:0076702",
+ "UPHENO:0075195",
+ "HP:0000240",
+ "UBERON:0000475",
+ "UPHENO:0051804",
+ "UPHENO:0046383",
+ "BFO:0000002",
+ "HP:0012639",
+ "UPHENO:0089764",
+ "CL:0000775",
+ "UBERON:0000075",
+ "CL:0000225",
+ "UBERON:0010912",
+ "HP:0000929",
+ "UBERON:0000955",
+ "UBERON:0000073",
+ "UPHENO:0086172",
+ "HP:0000707",
+ "UPHENO:0002926",
+ "UPHENO:0069254",
+ "UPHENO:0075220",
+ "UPHENO:0086173",
+ "HP:0011875",
+ "HP:0002977",
+ "UPHENO:0089759",
+ "UPHENO:0085302",
+ "UPHENO:0077373",
+ "CL:0000151",
+ "CL:0000232",
+ "UPHENO:0011531",
+ "HP:0011873",
+ "HP:0005528",
+ "UPHENO:0002844",
+ "UPHENO:0049587",
+ "UPHENO:0085330",
+ "GO:0008152",
+ "UBERON:0000463",
+ "UPHENO:0081581",
+ "CHEBI:32988",
+ "CHEBI:33285",
+ "UBERON:0001017",
+ "UPHENO:0081547",
+ "CHEBI:33694",
+ "UPHENO:0077826",
+ "PR:000003809",
+ "UPHENO:0046378",
+ "NCBITaxon:1",
+ "CHEBI:33302",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "CHEBI:16670",
+ "CHEBI:50047",
+ "UPHENO:0049620",
+ "UBERON:0006314",
+ "CHEBI:36080",
+ "UBERON:0002616",
+ "UPHENO:0048751",
+ "UPHENO:0051763",
"BFO:0000003",
+ "UPHENO:0046284",
+ "HP:0045056",
+ "CHEBI:33579",
+ "UPHENO:0048707",
+ "BFO:0000015",
+ "CHEBI:33839",
+ "HP:0011017",
+ "UPHENO:0002976",
+ "PR:000000001",
+ "CHEBI:33675",
+ "HP:0001903",
+ "UBERON:0005944",
+ "UBERON:0034925",
+ "UPHENO:0088176",
+ "GO:0042592",
+ "CHEBI:16541",
+ "UPHENO:0068971",
+ "CHEBI:33695",
+ "CHEBI:51143",
+ "CHEBI:50860",
+ "CHEBI:25806",
+ "HP:0001939",
+ "GO:0008150",
+ "HP:0010876",
+ "HP:0004364",
],
"has_phenotype_closure_label": [
- "increased length of the skin of eyelid",
- "increased length of the ectoderm-derived structure",
- "skin of face morphology phenotype",
- "increased size of the zone of organ",
- "increased size of the multicellular anatomical structure",
- "increased length of the material anatomical entity",
- "increased size of the material anatomical entity",
- "increased length of the multicellular anatomical structure",
- "zone of organ",
- "ocular adnexa",
- "eyelid phenotype",
- "increased length of the zone of organ",
- "epicanthal fold",
- "zone of organ phenotype",
- "zone of skin morphology phenotype",
- "skin of eyelid",
- "eyelid",
- "skin of head",
- "tube",
- "closing of the multicellular anatomical structure",
- "Abnormality of the digestive system",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus morphology phenotype",
- "ectoderm-derived structure atresia",
- "anatomical conduit phenotype",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "anatomical conduit",
- "absent abdomen element",
- "increased size of the anatomical structure",
- "number of anatomical enitites of type compound organ phenotype",
- "absent multicellular anatomical structure in the renal system",
- "absent kidney in the renal system",
- "absent abdomen element in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "Unilateral renal agenesis",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
- "closing of the anatomical conduit",
- "number of anatomical enitites of type kidney phenotype",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent lateral structure",
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "anus atresia",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "incomplete closing of the interventricular septum",
- "Abnormal ventricular septum morphology",
- "Abnormal cardiac ventricle morphology",
- "Localized skin lesion",
- "Hypermelanotic macule",
- "anatomical line",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "Hypertelorism",
- "non-material anatomical boundary",
- "absent organ",
- "increased size of the non-material anatomical boundary",
- "location of eyeball of camera-type eye phenotype",
- "anatomical line between pupils",
- "increased size of the anatomical entity",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical entity",
- "increased length of the anatomical line",
- "multi organ part structure",
- "non-material anatomical boundary phenotype",
- "eyelid morphology phenotype",
- "integumental system",
- "increased biological_process in skin of body",
- "increased pigmentation",
- "increased biological_process",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "absent abdominal segment element in the renal system",
- "pigmentation phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "delayed growth",
- "Postnatal growth retardation",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the anatomical structure",
+ "growth",
+ "Short stature",
+ "decreased height of the anatomical entity",
"Growth delay",
- "Peripheral primitive neuroectodermal neoplasm",
- "Neuroepithelial neoplasm",
- "Neuroblastoma",
- "Neuroblastic tumor",
- "Primitive neuroectodermal tumor",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "Abnormal anus morphology",
- "regional part of nervous system",
- "organism",
- "increased size of the zone of skin",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "erythrocyte morphology phenotype",
+ "erythroid lineage cell morphology phenotype",
"regulation of macromolecule metabolic process",
- "cardiac ventricle phenotype",
- "negative regulation of metabolic process",
+ "regulation of biosynthetic process",
"negative regulation of cellular process",
- "Nervous tissue neoplasm",
- "Abnormal cellular physiology",
- "negative regulation of macromolecule metabolic process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "absent trunk region element in the renal system",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "increased length of the skin of face",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
"regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the vertebral column",
- "Abnormal axial skeleton morphology",
- "digestive system morphology phenotype",
- "postcranial axial skeleton phenotype",
- "dorsum",
- "irregular bone phenotype",
- "cervical vertebra endochondral element",
- "shape anatomical entity",
- "trunk or cervical vertebra",
- "neck morphology phenotype",
- "Abnormal neck morphology",
- "irregular bone",
- "regulation of macromolecule metabolic process phenotype",
- "dorsal part of neck",
- "dorsal region element",
- "axial skeleton plus cranial skeleton phenotype",
- "Abnormality of the neck",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "subdivision of vertebral column",
- "cervical region",
- "decreased length of neck",
- "vertebral element phenotype",
- "decreased number of myeloid cell",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "skin of head morphology phenotype",
- "Abnormal myeloid cell morphology",
- "decreased number of cell",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of gene expression",
+ "negative regulation of macromolecule biosynthetic process",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of cellular metabolic process",
"Chromosome breakage",
- "Abnormal platelet count",
- "bone marrow",
- "bone cell",
- "Abnormality of the anus",
- "oxygen accumulating cell",
- "anucleate cell",
- "secretory cell",
- "decreased number of material anatomical entity",
- "orifice atresia",
- "platelet phenotype",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "erythrocyte",
- "platelet",
+ "negative regulation of biological process phenotype",
+ "regulation of cellular process phenotype",
+ "negative regulation of gene expression phenotype",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "regulation of cellular biosynthetic process phenotype",
+ "programmed DNA elimination",
+ "aplasia or hypoplasia of telencephalon",
+ "multi-tissue structure",
+ "craniocervical region morphology phenotype",
+ "Abnormal neutrophil count",
+ "Abnormality of blood and blood-forming tissues",
+ "molecular entity",
"blood cell",
- "decreased number of platelet",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Thrombocytopenia",
- "erythroid lineage cell",
- "serotonin secreting cell",
- "tissue",
- "Abnormal cell morphology",
- "decreased number of anatomical entity",
- "Abnormal bone marrow cell morphology",
- "biological_process phenotype",
- "organ part",
- "endochondral bone phenotype",
- "Abnormal cardiac atrium morphology",
- "localised material anatomical entity",
- "abdomen element phenotype",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "decreased length of bone element",
- "skeletal element phenotype",
- "forelimb zeugopod bone hypoplasia",
+ "anatomical structure",
+ "musculature of body",
+ "nitrogen molecular entity",
+ "decreased size of the multicellular organism",
+ "telencephalon morphology phenotype",
+ "immune system morphology phenotype",
+ "multicellular organism height phenotype",
+ "cranial skeletal system",
+ "nucleate cell",
+ "postcranial axial skeletal system",
+ "multicellular anatomical structure phenotype",
+ "decreased number of granulocyte",
+ "negative regulation of biosynthetic process",
+ "blood cell phenotype",
+ "neutrophil",
+ "cell",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Morphological central nervous system abnormality",
+ "independent continuant",
+ "Abnormal granulocyte morphology",
+ "anatomical collection",
+ "nervous system phenotype",
+ "All",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "skull phenotype",
"biological regulation phenotype",
- "Abnormality of the nervous system",
- "ectoderm-derived structure",
- "Short neck",
- "Neoplasm by anatomical site",
- "decreased size of the arm bone",
- "neoplasm phenotype",
- "cardiac septum morphology phenotype",
- "localised multicellular anatomical structure",
+ "Abnormality of skull size",
+ "multicellular anatomical structure",
+ "Abnormal erythroid lineage cell morphology",
+ "leukocyte",
+ "material entity",
+ "organic amino compound",
+ "decreased number of material anatomical entity",
+ "hemolymphoid system",
+ "number of myeloid cell phenotype",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
"Abnormal nervous system morphology",
- "Abnormality of the cervical spine",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "Abnormality of blood and blood-forming tissues",
- "Neoplasm",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "manus morphology phenotype",
- "arm phenotype",
- "subdivision of skeleton phenotype",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "lateral structure phenotype",
- "Abnormal heart morphology",
- "decreased size of the material anatomical entity",
- "decreased length of bone of pectoral complex",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "anatomical entity morphology in the pectoral complex phenotype",
- "heart phenotype",
- "decreased length of bone of free limb or fin",
- "cervical region of vertebral column",
- "renal system",
- "absent organ in the renal system",
- "sense organ phenotype",
- "mesoderm-derived structure phenotype",
- "increased length of the anatomical structure",
- "absent material anatomical entity",
- "zeugopod",
- "arm bone phenotype",
- "regulation of cellular biosynthetic process",
- "Neoplasm by histology",
- "process",
- "aplasia or hypoplasia of anatomical entity",
- "skeleton",
- "organ phenotype",
- "trunk region element phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "skeleton phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased size of the forelimb endochondral element",
- "mesoderm-derived structure morphology in the heart phenotype",
- "autopodial skeleton",
- "increased length of the organ part",
- "subdivision of vertebral column phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "decreased length of anatomical structure",
- "cardiovascular system",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased length of skeletal element",
- "long bone phenotype",
- "Abnormal atrial septum morphology",
- "subdivision of skeletal system phenotype",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "Aplastic anemia",
- "face",
- "anatomical entity length phenotype",
- "appendage girdle complex",
- "zeugopod phenotype",
- "regulation of cellular process",
- "vertebral column",
- "Abnormal forearm morphology",
- "absent anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased size of the mesoderm-derived structure",
- "programmed DNA elimination",
- "system",
- "decreased length of endochondral element",
- "Short finger",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "Small for gestational age",
- "quality",
- "Upper limb undergrowth",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "trunk",
- "hematopoietic system phenotype",
- "size of anatomical entity phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "subdivision of head",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "Malignant neoplasm of the central nervous system",
- "incomplete closing of the cardiac septum",
- "Abnormality of globe location",
- "anatomical entity morphology in the heart phenotype",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "Limb undergrowth",
- "manual digit plus metapodial segment",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "circulatory organ",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "increased length of the epicanthal fold",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
+ "anatomical system phenotype",
+ "Neutropenia",
+ "musculoskeletal system",
+ "hematopoietic cell",
+ "decreased size of the anatomical entity",
+ "blood",
+ "growth phenotype",
+ "Abnormal granulocyte count",
+ "non-connected functional system",
+ "neutrophil phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "organism subdivision",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "negative regulation of gene expression",
"Phenotypic abnormality",
- "forelimb long bone",
- "arm",
- "skeleton of limb phenotype",
- "cardiac ventricle",
+ "blood organic molecular entity level phenotype",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "decreased number of hematopoietic cell",
+ "skull morphology phenotype",
+ "biological_process",
+ "granulocyte",
+ "skeletal system phenotype",
+ "Abnormal leukocyte morphology",
+ "decreased number of leukocyte",
+ "Abnormality of the skeletal system",
+ "decreased number of cell",
+ "erythrocyte",
+ "organ system subdivision",
+ "immune system",
+ "myeloid cell",
+ "organonitrogen compound",
+ "anatomical entity phenotype",
+ "root",
+ "chemical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "material anatomical entity",
+ "Abnormal platelet count",
+ "Decreased head circumference",
+ "Abnormal myeloid leukocyte morphology",
+ "skull",
+ "anatomical structure phenotype",
+ "Abnormality of the head",
+ "Abnormal forebrain morphology",
+ "Abnormality of the immune system",
+ "Thrombocytopenia",
+ "eukaryotic cell",
+ "hematopoietic system phenotype",
+ "ectoderm-derived structure phenotype",
+ "blood chemical entity level phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "Abnormal cellular immune system morphology",
+ "myeloid leukocyte",
+ "telencephalon phenotype",
+ "organic molecular entity",
+ "hematopoietic system",
+ "multicellular organism",
+ "primary amide",
+ "subdivision of organism along main body axis",
"material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity",
+ "disconnected anatomical group",
+ "bone marrow",
+ "immune system phenotype",
+ "skeleton",
+ "postcranial axial skeleton",
+ "number of hematopoietic cell phenotype",
+ "subdivision of skeletal system phenotype",
+ "Abnormal myeloid cell morphology",
+ "number of anatomical enitites of type neutrophil phenotype",
"Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Neuroectodermal neoplasm",
- "decreased length of endochondral bone",
- "increased length of the skin of head",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "camera-type eye",
- "All",
- "increased length of the zone of skin",
- "anatomical structure atresia",
+ "secretory cell",
+ "motile cell",
"skeletal system",
- "Embryonal renal neoplasm",
- "cardiac ventricle morphology phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "pnictogen molecular entity",
+ "Eumetazoa",
+ "Eukaryota",
+ "bone marrow cell",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "blood alpha-fetoprotein level phenotype",
+ "leukocyte morphology phenotype",
+ "decreased number of anatomical structure",
+ "regulation of gene expression phenotype",
+ "bone cell",
+ "polypeptide",
+ "Abnormal skeletal morphology",
+ "erythroid lineage cell",
+ "Abnormal axial skeleton morphology",
+ "Growth abnormality",
+ "programmed DNA elimination by chromosome breakage",
+ "size of skull phenotype",
+ "anatomical entity morphology phenotype",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "mesoderm-derived structure",
+ "macromolecule",
+ "granulocyte morphology phenotype",
+ "organism substance",
+ "taxon specific phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Bone marrow hypocellularity",
"skeletal element",
- "multi organ part structure phenotype",
- "cardiac septum phenotype",
- "appendicular skeleton phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
+ "regional part of nervous system phenotype",
+ "phenotype",
+ "Abnormal cell morphology",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "information biomacromolecule",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased number of anatomical entity",
+ "decreased number of platelet",
+ "quality",
"anatomical system",
- "forelimb endochondral element",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "zone of skin",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "decreased length of multicellular anatomical structure",
- "decreased size of the bone element",
- "absent abdominal segment element",
- "endochondral bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased size of the limb bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical structure",
- "increased size of the anatomical line",
- "myeloid lineage restricted progenitor cell",
- "absent compound organ",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "orifice",
- "anterior region of body",
- "hematopoietic lineage restricted progenitor cell",
- "cranial skeletal system",
- "Microphthalmia",
+ "Abnormality of thrombocytes",
+ "number of cell phenotype",
+ "cellular organisms",
+ "Abnormal brain morphology",
+ "polyatomic entity",
+ "Abnormality of neutrophils",
+ "multi-tissue structure phenotype",
"central nervous system",
- "absent kidney",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "musculoskeletal system",
- "limb segment",
- "organ",
- "skeleton of pectoral complex",
- "musculature of body phenotype",
- "increased length of the anatomical line between pupils",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "forelimb long bone phenotype",
+ "tissue",
+ "amino acid chain",
+ "craniocervical region",
+ "haemolymphatic fluid",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "homeostatic process phenotype",
+ "brain morphology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "protein-containing material entity",
+ "regional part of brain phenotype",
+ "forebrain",
+ "regional part of nervous system",
+ "organism",
+ "Microcephaly",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "head morphology phenotype",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "regulation of biological process",
"nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "radius bone morphology phenotype",
- "digitopodium region",
- "decreased size of the forelimb zeugopod bone",
- "interatrial septum",
+ "telencephalon",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "central nervous system morphology phenotype",
+ "axial skeletal system",
+ "specifically dependent continuant",
+ "Abnormal cerebral morphology",
+ "Metazoa",
+ "axial skeleton plus cranial skeleton",
+ "Abnormality of the nervous system",
+ "organism subdivision phenotype",
+ "role blood level phenotype",
"nervous system",
- "absent anatomical structure in the renal system",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "absent trunk region element",
- "decreased length of mesoderm-derived structure",
+ "anterior region of body",
+ "myeloid leukocyte phenotype",
+ "main body axis",
+ "decreased size of the material anatomical entity",
+ "biological_process phenotype",
"regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "Abnormal circulating metabolite concentration",
+ "multicellular organism morphology phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "blood protein polypeptide chain level phenotype",
+ "musculature",
+ "decreased number of neutrophil",
+ "regional part of brain",
+ "brain",
+ "subdivision of skeleton",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Opisthokonta",
+ "anucleate cell",
+ "platelet phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bodily fluid",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "blood organic amino compound level phenotype",
+ "biogenic amine secreting cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "forebrain morphology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "protein-containing molecular entity",
+ "negative regulation of cellular biosynthetic process",
+ "main group molecular entity",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal cellular physiology",
+ "increased level of chemical entity",
+ "head",
+ "chemical entity level phenotype",
+ "amide",
+ "number of leukocyte phenotype",
+ "platelet",
+ "organooxygen compound",
+ "peptide",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "body proper",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating nitrogen compound concentration",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "carbon group molecular entity",
+ "oxygen molecular entity",
+ "organochalcogen compound",
+ "serotonin secreting cell",
+ "homeostatic process",
+ "oxygen accumulating cell",
+ "protein",
+ "increased level of alpha-fetoprotein",
+ "Abnormal circulating alpha-fetoprotein concentration",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "heteroorganic entity",
+ "Abnormal platelet morphology",
+ "alpha-fetoprotein",
+ "chalcogen molecular entity",
+ "role bodily fluid level phenotype",
+ "metabolic process",
+ "continuant",
+ "protein polypeptide chain",
+ "alpha-fetoprotein level phenotype",
+ "organ",
+ "occurrent",
+ "regulation of biological process phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "Abnormal circulating protein concentration",
+ "decreased number of myeloid cell",
+ "Abnormal circulating organic amino compound concentration",
+ "process",
+ "craniocervical region phenotype",
+ "Elevated circulating alpha-fetoprotein concentration",
+ ],
+ "has_phenotype_count": 8,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0014987",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group U",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.",
+ "xref": ["DOID:0111085", "GARD:16215", "MEDGEN:934618", "OMIM:617247", "UMLS:C4310651"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "FANCU",
+ "Fanconi Anemia, complementation group U",
+ "Fanconi Anemia, complementation group type U",
+ "Fanconi anaemia caused by mutation in XRCC2",
+ "Fanconi anaemia complementation group type U",
+ "Fanconi anemia caused by mutation in XRCC2",
+ "Fanconi anemia complementation group type U",
+ "Fanconi anemia, complementation GROUP U",
+ "XRCC2 Fanconi anaemia",
+ "XRCC2 Fanconi anemia",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
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+ "HP:0009777",
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+ "HP:0000086",
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+ "HP:0001643",
+ "HP:0012799",
+ "HP:0010035",
+ "HP:0011835",
+ ],
+ "has_phenotype_label": [
+ "Absent thumb",
+ "Chromosome breakage",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypoplasia of the radius",
+ "Absent radius",
+ "Growth delay",
+ "Patent ductus arteriosus",
+ "Unilateral facial palsy",
+ "Aplasia of the 1st metacarpal",
+ "Absent scaphoid",
+ ],
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+ "UPHENO:0080200",
+ "UBERON:0001890",
+ "UBERON:0000055",
+ "UBERON:0000489",
+ "UBERON:0010323",
+ "UPHENO:0069327",
+ "UBERON:5102544",
+ "UBERON:0004111",
+ "UBERON:0011137",
+ "UPHENO:0087907",
+ "HP:0006501",
+ "UBERON:0015410",
+ "UPHENO:0002736",
+ "UBERON:0001893",
+ "UPHENO:0026181",
+ "UPHENO:0002964",
+ "UBERON:0002616",
+ "HP:0012443",
+ "UPHENO:0002553",
+ "UPHENO:0033580",
+ "UPHENO:0076776",
+ "NCBITaxon:6072",
+ "HP:0000924",
+ "UBERON:0004121",
+ "UPHENO:0002641",
+ "HP:0000252",
+ "UPHENO:0003001",
+ "UPHENO:0069047",
+ "UPHENO:0068838",
+ "UPHENO:0002746",
+ "HP:0006503",
+ "UPHENO:0002764",
+ "UPHENO:0025652",
+ "HP:0009115",
+ "UPHENO:0004523",
+ "NCBITaxon:33154",
+ "UPHENO:0009338",
+ "UPHENO:0026808",
+ "HP:0002060",
+ "UBERON:0007811",
+ "UPHENO:0002816",
+ "UPHENO:0002902",
+ "UBERON:0001017",
+ "UPHENO:0003026",
+ "HP:0000234",
+ "UBERON:0000475",
+ "UPHENO:0002559",
+ "UPHENO:0076702",
+ "UBERON:0002049",
+ "UPHENO:0011533",
+ "UBERON:0001016",
+ "UBERON:0000033",
+ "UPHENO:0079876",
+ "UPHENO:0008865",
+ "UPHENO:0003066",
+ "UBERON:0005985",
+ "UPHENO:0025845",
+ "UPHENO:0075195",
+ "HP:0009121",
+ "UPHENO:0080164",
+ "UPHENO:0075804",
+ "UPHENO:0081521",
+ "UPHENO:0086635",
+ "HP:0000240",
+ "HP:0001367",
+ "UPHENO:0002916",
+ "UPHENO:0075220",
+ "UPHENO:0068898",
+ "UPHENO:0046531",
+ "UBERON:0001423",
+ "UPHENO:0046554",
+ "UBERON:0013768",
+ "UPHENO:0046505",
+ "UPHENO:0068921",
+ "HP:0005773",
+ "UPHENO:0008709",
+ "UPHENO:0069266",
+ "UPHENO:0026317",
+ "UPHENO:0086956",
+ "UBERON:0034921",
+ "UPHENO:3000004",
+ "UPHENO:0025508",
+ "UPHENO:0046594",
+ "UPHENO:0069030",
+ "UPHENO:0069046",
+ "UPHENO:0008668",
+ "UPHENO:0068971",
+ "UPHENO:0082875",
+ "UBERON:0001981",
+ "UPHENO:0011492",
+ "UBERON:0013702",
+ "UPHENO:0080187",
+ "UBERON:0003466",
+ "UPHENO:0050007",
+ "UPHENO:0053601",
+ "HP:0003026",
+ "UBERON:0003607",
+ "UPHENO:0046460",
+ "UPHENO:0087501",
+ "UPHENO:0002594",
+ "UPHENO:0046465",
+ "UBERON:0003606",
+ "UPHENO:0081313",
+ "UPHENO:0069064",
+ "UPHENO:0049757",
+ "UPHENO:0069125",
+ "UPHENO:0086797",
+ "UBERON:0001015",
+ "UPHENO:0069062",
+ "UBERON:0010912",
+ "UPHENO:0046479",
+ "HP:0040072",
+ "UPHENO:0075944",
+ "UPHENO:0046540",
+ "UBERON:0000955",
+ "UBERON:0010703",
+ "HP:0009826",
+ "UBERON:0002389",
+ "UPHENO:0087349",
+ "UBERON:0000468",
+ "UPHENO:0046538",
+ "UPHENO:0079872",
+ "UPHENO:0009341",
+ "UPHENO:0046445",
+ "UPHENO:0002637",
+ "UPHENO:0081091",
+ "UPHENO:0046392",
+ "UPHENO:0080160",
+ "UPHENO:0046397",
+ "UBERON:0009878",
+ "UBERON:0005162",
+ "UPHENO:0088186",
+ "UPHENO:0025852",
+ "UPHENO:0076791",
+ "UPHENO:0046403",
+ "UPHENO:0076754",
+ "UPHENO:0069194",
+ "UBERON:0001647",
+ "HP:0009824",
+ "UPHENO:0001002",
+ "UPHENO:0012308",
+ "GO:0040007",
+ "UPHENO:0069163",
+ "HP:0002813",
+ "HP:0002818",
+ "UPHENO:0015281",
+ "UPHENO:0026098",
+ "UPHENO:0025497",
+ "UBERON:0010544",
+ "HP:0005927",
+ "UPHENO:0026486",
+ "UPHENO:0011573",
+ "UPHENO:0011568",
+ "UPHENO:0009295",
+ "UPHENO:0008703",
+ "HP:0410008",
+ "UPHENO:0002433",
+ "UPHENO:0026097",
+ "UBERON:0004473",
+ "UPHENO:0068912",
+ "HP:0003953",
+ "UPHENO:0009304",
+ "UPHENO:0009344",
+ "UPHENO:0026023",
+ "UPHENO:0011563",
+ "UPHENO:0026312",
+ "UPHENO:0069292",
+ "UPHENO:0009115",
+ "UPHENO:0026806",
+ "UPHENO:0025882",
+ "UPHENO:0008487",
+ "UPHENO:0025136",
+ "UPHENO:0026183",
+ "UPHENO:0026344",
+ "GO:0065007",
+ "UPHENO:0025855",
+ "UPHENO:0009010",
+ "UPHENO:0026074",
+ "UPHENO:0025544",
+ "UPHENO:0076810",
+ "UPHENO:0004507",
+ "UPHENO:0025961",
+ "UPHENO:0008475",
+ "HP:0003220",
+ "UPHENO:0026811",
+ "UBERON:0001630",
+ "UPHENO:0008604",
+ "UPHENO:0053643",
+ "HP:0009825",
+ "UPHENO:0008430",
+ "UPHENO:0025808",
+ "UPHENO:0076799",
+ "HP:0000119",
+ "UPHENO:0081511",
+ "UPHENO:0026095",
+ "UPHENO:0025545",
+ "UPHENO:0025955",
+ "UPHENO:0025883",
+ "UBERON:0001637",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UBERON:0001436",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0000541",
+ "UBERON:0010543",
+ "HP:0001507",
+ "UPHENO:0000543",
+ "UBERON:0005177",
+ "UPHENO:0087334",
+ "UBERON:0008785",
+ "UPHENO:0002668",
+ "HP:0000118",
+ "UBERON:0003834",
+ "HP:0010242",
+ "UBERON:0007100",
+ "UBERON:0003620",
+ "UPHENO:0033603",
+ "UBERON:0013630",
+ "UBERON:0034923",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0004535",
+ "UBERON:0005181",
+ ],
+ "has_phenotype_closure_label": [
+ "Abnormality of the wrist",
+ "absent proximal mesopodial bone",
+ "Carpal bone aplasia",
+ "carpal bone phenotype",
+ "proximal mesopodial endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the carpal bones",
+ "absent mesopodium bone",
+ "proximal mesopodial bone phenotype",
+ "absent proximal carpal endochondral element",
+ "aplastic carpal bone",
+ "mesopodium bone phenotype",
+ "skeletal joint phenotype",
+ "skeletal joint morphology in the pectoral complex phenotype",
+ "absent mesopodium bone in the limb",
+ "carpal region phenotype",
+ "absent proximal carpal bone",
+ "Abnormality of the scaphoid",
+ "carpal region",
+ "absent radiale",
+ "absent short bone in the limb",
+ "mesopodium region phenotype",
+ "carpus endochondral element",
+ "skeletal joint",
+ "multi organ part structure",
+ "carpal bone morphology phenotype",
+ "Absent scaphoid",
+ "proximal mesopodial bone",
+ "proximal carpal endochondral element",
+ "short bone",
+ "Abnormality of upper limb joint",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "absent autopod endochondral element in the limb",
+ "absent skeletal element in the metacarpus region",
+ "absent anatomical structure in the metacarpus region",
+ "absent carpus endochondral element in the limb",
+ "absent autopod bone in the metacarpus region",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "Aplasia of the proximal phalanges of the hand",
+ "metapodium bone 1 phenotype",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "metacarpal bone morphology phenotype",
+ "manual digit bone phenotype",
+ "Abnormal finger phalanx morphology",
+ "absent metapodium bone",
+ "aplasia or hypoplasia of phalanx of manus",
+ "proximal carpal endochondral element phenotype",
+ "absent digitopodium bone",
+ "phalanx of manus phenotype",
+ "Abnormal metacarpal morphology",
+ "absent manual digitopodium bone in the metacarpus region",
+ "aplastic metacarpal bone of digit 1",
+ "absent endochondral bone in the metacarpus region",
+ "absent metacarpal bone in the metacarpus region",
+ "absent bone of appendage girdle complex in the metacarpus region",
+ "Aplasia of metacarpal bones",
+ "absent manus bone in the metacarpus region",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "metapodium bone phenotype",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "metapodium bone 1",
+ "proximal phalanx",
+ "proximal phalanx of manus",
+ "Partial absence of thumb",
+ "Aplasia of the 1st metacarpal",
+ "autopod bone phenotype",
+ "absent anatomical entity in the metacarpus region",
+ "absent limb endochondral element in the metacarpus region",
+ "absent manus bone in the limb",
+ "manual digit phalanx endochondral element phenotype",
+ "autopod endochondral element phenotype",
+ "absent limb long bone in the metacarpus region",
+ "phalanx phenotype",
+ "absent manus bone",
+ "digit 1 digitopodial skeleton",
+ "manual digit digitopodial skeleton",
+ "absent bone of pectoral complex in the metacarpus region",
+ "Abnormality of thumb phalanx",
+ "phalanx endochondral element",
+ "manual digit metacarpus endochondral element",
+ "manual digit phalanx endochondral element",
+ "absent long bone in the metacarpus region",
+ "proximal carpal bone",
+ "digitopodium bone phenotype",
+ "Aplasia/Hypoplasia of the proximal phalanges of the hand",
+ "absent autopod bone in the limb",
+ "manual digit 1 metacarpus endochondral element",
+ "manual digit 1 phalanx phenotype",
+ "absent manual digit metacarpus endochondral element in the metacarpus region",
+ "metacarpal bone of digit 1",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
+ "metapodium bone",
+ "skeleton of digitopodium",
+ "absent mesoderm-derived structure in the metacarpus region",
+ "absent metapodium bone in the metacarpus region",
+ "facial nerve",
+ "cranial neuron projection bundle",
+ "decreased muscle organ strength",
+ "Abnormal seventh cranial physiology",
+ "peripheral nervous system",
+ "neuron projection bundle",
+ "muscle structure physiology phenotype",
+ "lateral structure physiology phenotype",
+ "nerve phenotype",
+ "muscle organ phenotype",
+ "material anatomical entity physiology phenotype",
+ "multi cell part structure phenotype",
+ "muscle organ morphology phenotype",
+ "Cranial nerve paralysis",
+ "neuron projection bundle phenotype",
+ "axial musculature",
+ "face phenotype",
+ "Unilateral facial palsy",
+ "skeletal muscle organ, vertebrate phenotype",
+ "paralysed anatomical entity",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "Abnormality of facial soft tissue",
+ "metapodial skeleton",
+ "cranial neuron projection bundle phenotype",
+ "skeletal musculature",
+ "muscle structure",
+ "multicellular anatomical structure physiology phenotype",
+ "paralysed cranial nerve",
+ "cranial muscle phenotype",
+ "Abnormality of the musculature",
+ "Abnormal skeletal muscle morphology",
+ "cranial or facial muscle phenotype",
+ "cranial or facial muscle",
+ "Abnormal peripheral nerve morphology by anatomical site",
+ "Weakness of facial musculature",
+ "skeletal joint morphology phenotype",
+ "facial muscle",
+ "absent autopod endochondral element",
+ "craniocervical muscle",
+ "anatomical structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "peripheral nervous system phenotype",
+ "Abnormal nervous system physiology",
+ "muscle organ physiology phenotype",
+ "musculature of face",
+ "skeletal musculature of head",
+ "cranial nerve physiology phenotype",
+ "anatomical system physiology phenotype",
+ "aplastic manual digit 1 phalanx",
+ "muscle organ",
+ "craniocervical muscle phenotype",
+ "decreased anatomical entity strength",
+ "subdivision of head phenotype",
+ "nervous system physiology phenotype",
+ "manual digit bone",
+ "Abnormal morphology of the great vessels",
+ "material anatomical entity morphology in the heart phenotype",
+ "artery morphology phenotype",
+ "Abnormal heart morphology",
+ "Congenital malformation of the great arteries",
+ "systemic arterial system",
+ "Abnormal cardiovascular system morphology",
+ "vascular system",
+ "heart morphology phenotype",
+ "Abnormality of the vasculature",
+ "vessel phenotype",
+ "incomplete closing of the coronary vessel",
+ "cranial nerve",
+ "ductus arteriosus morphology phenotype",
+ "circulatory organ",
+ "Abnormality of the cardiovascular system",
+ "incomplete closing of the vessel",
+ "incomplete closing of the heart blood vessel",
+ "blood vessel morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "incomplete closing of the anatomical structure",
+ "incomplete closing of the systemic artery",
+ "anatomical conduit",
+ "incomplete closing of the ductus arteriosus",
+ "manual digit 1 phalanx",
+ "artery phenotype",
+ "anatomical cluster phenotype",
+ "trunk blood vessel",
+ "arterial blood vessel",
+ "great vessel of heart",
+ "anatomical cluster",
+ "carpus endochondral element phenotype",
+ "incomplete closing of the arterial blood vessel",
+ "trunk blood vessel phenotype",
+ "anatomical conduit phenotype",
+ "mesopodium region",
+ "aplasia or hypoplasia of metacarpal bone",
+ "systemic artery",
+ "phalanx",
+ "vasculature of organ",
+ "nerve",
+ "heart plus pericardium",
+ "vasculature of trunk",
+ "heart blood vessel",
+ "arterial system",
+ "disconnected anatomical group",
+ "great vessel of heart morphology phenotype",
+ "heart vasculature",
+ "ductus arteriosus",
+ "incomplete closing of the thoracic segment blood vessel",
+ "Abnormality of the peripheral nervous system",
+ "compound organ",
+ "zeugopodial skeleton",
+ "absent carpus endochondral element",
+ "limb long bone",
+ "absent organ in the multicellular organism",
+ "blood vessel",
+ "outflow tract",
+ "Ectopic kidney",
"Abnormal renal morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "decreased size of the endochondral element",
- "Short long bone",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "postcranial axial skeleton",
- "organ system subdivision",
- "bone of dorsum phenotype",
- "viscus",
- "aplasia or hypoplasia of manual digit",
- "decreased size of the bone of pectoral complex",
- "blood cell phenotype",
- "simple eye phenotype",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type organ phenotype",
- "cervical vertebra endochondral element phenotype",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "Abnormal localization of kidney",
+ "programmed DNA elimination by chromosome breakage",
+ "size of skull phenotype",
"trunk region element",
- "Abnormality of the integument",
- "incomplete closing of the material anatomical entity",
- "phenotype",
"pectoral complex",
- "septum phenotype",
- "radius endochondral element",
- "Atrial septal defect",
- "decreased size of the multicellular anatomical structure",
- "Decreased head circumference",
- "material anatomical entity",
- "appendicular skeletal system",
- "long bone",
- "lateral structure",
- "closing of the anatomical structure",
- "phenotypic effect",
- "decreased length of bone of appendage girdle complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "digestive system phenotype",
- "vertebra",
- "decreased length of forelimb bone",
- "decreased length of organ",
- "myeloblast",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "Macule",
- "programmed DNA elimination by chromosome breakage",
- "heart morphology phenotype",
- "thoracic cavity element phenotype",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
+ "subdivision of skeletal system",
+ "entity",
+ "manual digit 1 phalanx endochondral element",
"forelimb zeugopod bone morphology phenotype",
- "integument phenotype",
- "musculature",
- "absent manual digit",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "nervous system phenotype",
- "limb phenotype",
+ "renal system phenotype",
+ "absent endochondral bone in the limb",
+ "short bone phenotype",
+ "acropodial skeleton",
+ "Abnormal muscle physiology",
+ "autopod region morphology phenotype",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "Abnormality of the upper urinary tract",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "localised multicellular anatomical structure",
+ "gustatory system",
+ "main body axis",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "segment of autopod",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "kidney phenotype",
+ "skeletal system morphology phenotype",
+ "cell",
+ "limb",
+ "Abnormality of the upper limb",
+ "skeletal element",
+ "zeugopod",
+ "regulation of biosynthetic process phenotype",
+ "cranial muscle",
+ "subdivision of organism along main body axis phenotype",
+ "absent limb bone in the limb",
+ "aplasia or hypoplasia of proximal phalanx of manus",
"negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "forelimb phenotype",
- "multicellular organism",
- "decreased size of the skeletal element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Medulloblastoma",
- "hematopoietic system",
- "Abnormality of head or neck",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "bone of pectoral complex phenotype",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "shape of continuant phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "homeostatic process",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Muscle weakness",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
+ "aplasia or hypoplasia of radius bone",
+ "absent bone of pectoral complex in the forelimb",
+ "phalanx morphology phenotype",
+ "Eumetazoa",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "articular system",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "phalanx endochondral element phenotype",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent carpal bone in the limb",
+ "metacarpal bone",
+ "occurrent",
"subdivision of skeleton",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "increased size of the organ part",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "root",
+ "decreased length of organ",
+ "musculoskeletal system",
+ "localised anatomical structure",
+ "proximal mesopodial endochondral element",
+ "Absent thumb",
+ "cavitated compound organ phenotype",
+ "mesopodium bone",
+ "bone of free limb or fin",
+ "aplastic anatomical entity",
+ "incomplete closing of the trunk blood vessel",
+ "anterior region of body",
+ "cardiovascular system",
+ "absent skeletal element",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
"anatomical collection",
- "septum",
- "Abnormal cardiac septum morphology",
- "decreased length of limb bone",
- "incomplete closing of the septum",
+ "absent carpal bone",
+ "nervous system phenotype",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "systemic artery phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "Opisthokonta",
"Eukaryota",
- "anatomical system phenotype",
- "cardiac atrium",
- "absent material anatomical entity in the limb",
- "digestive tract",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "incomplete closing of the artery",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "proximal carpal bone phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "arterial blood vessel phenotype",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
+ "Phenotypic abnormality",
+ "carpal bone",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "multicellular anatomical structure phenotype",
+ "bone element phenotype",
+ "Abnormal carpal morphology",
+ "mesopodial skeleton",
+ "multi-limb segment region phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "absent autopod bone",
+ "regulation of macromolecule metabolic process",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "absent organ in the metacarpus region",
+ "organism subdivision phenotype",
+ "appendage phenotype",
"skeleton of limb",
- "radius bone hypoplasia",
- "multicellular anatomical structure",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
+ "Aplasia involving forearm bones",
+ "negative regulation of cellular process phenotype",
+ "absent manual digit metacarpus endochondral element",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "incomplete closing of the anatomical entity",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "manual digitopodium bone phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "viscus",
+ "decreased size of the skeletal element",
+ "appendicular skeleton",
+ "upper limb segment",
+ "multi cell part structure",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "carpal skeleton",
+ "arm phenotype",
+ "thoracic cavity element",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "limb bone",
+ "absent bone element in the limb",
+ "absent forelimb endochondral element in the metacarpus region",
"segment of manus",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "upper limb segment phenotype",
- "negative regulation of biosynthetic process",
- "vertebral element",
- "absent autopodial extension",
- "upper eyelid",
- "specifically dependent continuant",
- "Epicanthus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "limb endochondral element",
+ "absent limb bone",
+ "agenesis of anatomical entity",
+ "absent bone element in the metacarpus region",
+ "absent bone of free limb or fin in the limb",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "manus bone",
+ "radius bone",
+ "Abnormality of the hand",
+ "nerve of head region",
+ "phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "absent limb long bone in the forelimb",
+ "autopodial extension phenotype",
+ "manual digit",
+ "articulation phenotype",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "absent multicellular anatomical structure in the skeletal system",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "regulation of cellular process phenotype",
"forelimb zeugopod",
- "limb long bone phenotype",
- "incomplete closing of the anatomical structure",
- "Abnormality of the head",
- "aplasia or hypoplasia of skeleton",
- "arm bone",
- "occurrent",
- "multi-limb segment region",
- "musculature of body",
- "pectoral appendage",
+ "absent organism subdivision in the multicellular organism",
+ "multicellular organism",
+ "regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "manus morphology phenotype",
+ "material anatomical entity phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "paired limb/fin",
+ "metacarpus region",
+ "Hypoplasia of the radius",
+ "absent material anatomical entity in the metacarpus region",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "aplasia or hypoplasia of carpal bone",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "cranial nerve phenotype",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "mesoderm-derived structure phenotype",
+ "decreased length of bone of appendage girdle complex",
"bone element",
- "skin of face",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "organism subdivision phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "regulation of biological process",
+ "facial nerve phenotype",
+ "digit 1 phenotype",
+ "vessel",
+ "lateral structure",
+ "autopod bone",
"mesoderm-derived structure",
- "upper urinary tract phenotype",
- "excretory system",
- "paired limb/fin segment",
- "cardiac chamber",
- "Growth abnormality",
- "skeletal system phenotype",
- "limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "decreased length of anatomical entity",
- "Abnormal skeletal morphology",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormal digit morphology",
"thoracic segment organ",
- "Renal agenesis",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "nucleate cell",
- "zeugopodial skeleton",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "cardiac septum",
- "heart plus pericardium",
- "non-connected functional system",
- "viscus phenotype",
- "segment of autopod",
- "primary circulatory organ phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "dorsal region element phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "absent trunk region element in the multicellular organism",
- "regulation of cellular metabolic process",
- "Abnormal cardiovascular system morphology",
- "cardiac atrium phenotype",
- "Absent thumb",
- "cardiovascular system morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "anatomical structure morphology in the heart phenotype",
- "cardiovascular system phenotype",
- "granulocytopoietic cell",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "cervical vertebra",
- "paired limb/fin segment phenotype",
- "compound organ",
- "subdivision of organism along main body axis",
- "decreased size of the forelimb bone",
- "main body axis",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "material anatomical entity morphology in the heart phenotype",
- "neck phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "structure with developmental contribution from neural crest",
- "absent anatomical structure in the limb",
- "Abnormality of the ocular adnexa",
- "orbital region phenotype",
- "Neoplasm of the central nervous system",
- "organ part phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "opening of the anatomical entity",
- "cardiac atrium morphology phenotype",
- "Decreased body weight",
- "thoracic segment organ phenotype",
- "biological_process",
- "cardiac chamber phenotype",
- "trunk phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
+ "absent forelimb long bone",
+ "organ system subdivision",
+ "metacarpus skeleton",
+ "nerve of head region phenotype",
+ "musculature",
"regional part of brain",
- "digit phenotype",
- "anus phenotype",
- "autopodial extension phenotype",
- "decreased size of the ectoderm-derived structure",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "blood vasculature",
+ "limb endochondral element phenotype",
+ "skeletal muscle organ, vertebrate",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "taxon specific phenotype",
+ "absent manual digit",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "head or neck skin",
- "digit 1 phenotype",
- "number of cell phenotype",
- "limb bone",
- "camera-type eye phenotype",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "absent anatomical entity in the skeletal system",
+ "Abnormal cellular physiology",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "absent bone of free limb or fin",
+ "articulation",
+ "Abnormality of facial musculature",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Abnormal skeletal morphology",
+ "aplastic phalanx of manus",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "incomplete closing of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone of appendage girdle complex phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
"manual digit 1 or 5",
- "decreased length of digit 1",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
+ "paired limb/fin segment phenotype",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent long bone",
+ "anatomical entity",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "pectoral appendage skeleton",
+ "absent proximal mesopodial endochondral element",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
"manus",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "eukaryotic cell",
- "integument",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "anatomical entity atresia",
- "autopod region",
- "myeloid cell",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "Short digit",
- "autopod region morphology phenotype",
- "interventricular septum",
- "skull",
- "Neoplasm of the nervous system",
- "Short thumb",
- "Abnormality of the hand",
"Abnormality of limbs",
- "incomplete closing of the interatrial septum",
- "aplasia or hypoplasia of manual digit 1",
- "size of eyeball of camera-type eye phenotype",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "Acute myeloid leukemia",
- "anus",
- "Ventricular septal defect",
- "decreased length of autopodial extension",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
+ "muscle structure phenotype",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "arm bone",
+ "Abnormal joint morphology",
+ "body proper",
+ "absent limb endochondral element in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "multicellular organism morphology phenotype",
+ "absent forelimb bone in the metacarpus region",
+ "absent multicellular anatomical structure in the limb",
+ "regulation of cellular process",
+ "localised trunk region element",
+ "coronary vessel",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "craniocervical region morphology phenotype",
+ "Abnormality of the skeletal system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "system",
+ "regulation of gene expression phenotype",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "absent forelimb long bone in the metacarpus region",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent limb bone in the metacarpus region",
"absent organism subdivision",
- "Ectopic kidney",
- "abdominal segment of trunk",
- "cervical vertebra phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
+ "absent endochondral element in the metacarpus region",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "blood vessel phenotype",
+ "decreased length of mesoderm-derived structure",
+ "negative regulation of macromolecule metabolic process",
"abdominal segment element",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "eyeball of camera-type eye",
+ "absent autopodial extension",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "digit 1 plus metapodial segment",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "absent metacarpal bone",
+ "absent anatomical entity",
+ "process",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "embryonic cardiovascular system",
+ "organism subdivision",
+ "craniocervical region musculature",
+ "regional part of brain phenotype",
+ "digit 1 or 5 phenotype",
+ "obsolete cell",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "programmed DNA elimination",
+ "multi-limb segment region",
+ "Facial palsy",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "metacarpal bone of digit 1 morphology phenotype",
+ "anatomical system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "renal system morphology phenotype",
+ "metacarpal bone phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "lateral structure phenotype",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormality of the kidney",
+ "trunk",
+ "Abnormality of the genitourinary system",
+ "forebrain",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "circulatory system",
+ "subdivision of organism along main body axis",
+ "renal system",
+ "Morphological central nervous system abnormality",
+ "Abnormality of the urinary system",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "biological_process",
"genitourinary system phenotype",
- "decreased size of the sense organ",
- "biogenic amine secreting cell",
- "interatrial septum morphology phenotype",
- "cavitated compound organ phenotype",
- "neck bone",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
+ "absent multicellular anatomical structure in the metacarpus region",
+ "manual digitopodium region",
+ "upper urinary tract",
+ "absent bone of free limb or fin in the metacarpus region",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "multi organ part structure phenotype",
+ "heart",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the head",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "Growth abnormality",
+ "cardiovascular system morphology phenotype",
+ "axial skeletal system",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "telencephalon phenotype",
+ "cellular organisms",
+ "Microcephaly",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "manus bone phenotype",
+ "Abnormal morphology of the radius",
+ "craniocervical region",
+ "forelimb skeleton",
+ "head morphology phenotype",
+ "regional part of nervous system phenotype",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "telencephalon",
+ "structure with developmental contribution from neural crest",
+ "decreased length of limb bone",
+ "ectoderm-derived structure",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "skull morphology phenotype",
+ "Abnormal 1st metacarpal morphology",
+ "Abnormal brain morphology",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "autopod endochondral element",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "central nervous system",
+ "absent organ in the forelimb",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "localised anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "incomplete closing of the anatomical conduit",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "aplastic forelimb zeugopod bone",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "Limb undergrowth",
+ "radius endochondral element",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
+ "decreased size of the material anatomical entity",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "decreased size of the bone of free limb or fin",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased length of anatomical structure",
"renal/urinary system phenotype",
- "appendicular skeleton",
- "Abnormal eye morphology",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
- "tube phenotype",
- "Leukemia",
- "localised abdomen element",
- "head phenotype",
- "anatomical entity",
- "primary circulatory organ",
- "localised organ",
- "incomplete closing of the anatomical entity",
- "kidney phenotype",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "absent radius bone",
+ "axial skeleton plus cranial skeleton",
+ "decreased size of the limb bone",
+ "absent short bone",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "decreased length of multicellular anatomical structure",
"kidney",
- "abdominal segment element phenotype",
- "localised anatomical entity",
- "Abnormal localization of kidney",
- "genitourinary system",
- "simple eye",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "Urinary tract neoplasm",
- "decreased length of forelimb endochondral element",
- "Renal neoplasm",
- "vertebral column phenotype",
- "Embryonal neoplasm",
- "pectoral appendage skeleton",
- "Nephroblastoma",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "increased length of the head or neck skin",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent digit",
- "bone of dorsum",
- "aplastic anatomical entity",
- "neck",
- "Abnormality of the orbital region",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "digit",
- "head",
- "visual system phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "eye",
- "face phenotype",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "craniocervical region",
- "disconnected anatomical group",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "absent limb long bone",
+ "decreased size of the forelimb bone",
+ "Abnormal peripheral nervous system morphology",
+ "Abnormal upper limb bone morphology",
+ "Abnormal blood vessel morphology",
+ "decreased size of the arm bone",
"decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "eye phenotype",
- "increased length of the non-material anatomical boundary",
- "sensory system",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "skin of body",
- "number of platelet phenotype",
- "Abnormality of globe size",
- "material anatomical entity atresia",
- "trunk or cervical vertebra phenotype",
- "Abnormality of the eye",
- "vertebra phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "visual system",
- "decreased size of the manual digit",
- "continuant",
+ "number of anatomical enitites of type bone element phenotype",
+ "Abnormal forearm bone morphology",
+ "absent autopod endochondral element in the metacarpus region",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "bone of pectoral complex morphology phenotype",
+ "organ",
+ "decreased size of the anatomical structure",
"Abnormality of the face",
- "decreased size of the eyeball of camera-type eye",
- "immaterial entity",
- "entire sense organ system",
- "sense organ",
- "Acute leukemia",
- "Abnormal cellular immune system morphology",
- "Hematological neoplasm",
- "interventricular septum morphology phenotype",
- "immune system",
- "Cafe-au-lait spot",
- "neck bone phenotype",
- "hematopoietic precursor cell",
- "material entity",
- "leukocyte",
- "digit 1",
- "progenitor cell",
- "anatomical collection phenotype",
- "Abnormal immune system morphology",
- "leukocyte morphology phenotype",
- "craniofacial/craniocervical phenotype",
- "Decreased anatomical entity mass",
"decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "immune system morphology phenotype",
- "cell phenotype",
- "hematopoietic cell",
- "decreased size of the digit",
- "motile cell",
- "precursor cell",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "Abnormal cellular phenotype",
- "multicellular organism mass phenotype",
- "absent anatomical entity in the forelimb",
- "Abnormality of body weight",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "multicellular anatomical structure mass phenotype",
- "anatomical entity mass phenotype",
- "decreased material anatomical entity mass",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
+ "decreased size of the endochondral element",
+ "absent forelimb zeugopod bone",
+ "decreased length of forelimb endochondral element",
+ "metapodium region",
+ "Aplasia/hypoplasia involving forearm bones",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "absent arm bone in the forelimb",
+ "decreased length of endochondral bone",
+ "absent forelimb bone in the forelimb",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "peripheral nervous system morphology phenotype",
+ "Aplasia involving bones of the upper limbs",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "absent bone of pectoral complex in the limb",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type organ phenotype",
+ "radiale",
+ "anatomical entity physiology phenotype",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "Abnormal proximal phalanx morphology of the hand",
+ "absent limb bone in the forelimb",
+ "absent skeletal element in the limb",
+ "absent anatomical structure in the skeletal system",
+ "Patent ductus arteriosus",
+ "absent bone element",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "absent forelimb bone",
+ "absent manual digitopodium bone",
+ "absent organ",
+ "Absent radius",
+ "radiale phenotype",
+ "Absent forearm bone",
+ "Aplasia of the phalanges of the hand",
+ "subdivision of head",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "absent limb endochondral element",
+ "facial muscle phenotype",
+ "systemic artery morphology phenotype",
+ "absent organ in the limb",
+ "absent endochondral element",
+ "absent endochondral bone in the forelimb",
+ "skeleton of manual digitopodium",
+ "localised organ",
+ "primary circulatory organ",
+ "absent endochondral bone",
+ "autopod region phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "absent radius bone in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "Short long bone",
+ "absent arm bone",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "arm bone phenotype",
+ "delayed growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"growth",
- "Neoplasm of the genitourinary tract",
- "decreased multicellular anatomical structure mass",
- "anatomical structure mass phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "body proper",
- "material anatomical entity mass phenotype",
- "Short forearm",
"growth phenotype",
+ "vasculature phenotype",
+ "decreased length of forelimb bone",
+ "anatomical structure morphology in the heart phenotype",
+ "anatomical entity morphology in the heart phenotype",
+ "Abnormal vascular morphology",
+ "absent digitopodium bone in the metacarpus region",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "incomplete closing of the blood vessel",
+ "absent bone of free limb or fin in the forelimb",
+ "artery",
+ "localised kidney",
+ "absent anatomical structure",
+ "conceptus",
+ "thoracic segment blood vessel",
],
- "has_phenotype_count": 25,
+ "has_phenotype_count": 11,
"highlight": None,
"score": None,
},
diff --git a/backend/tests/fixtures/autocomplete_query.py b/backend/tests/fixtures/autocomplete_query.py
index 733a5be2c..4e578d7b3 100644
--- a/backend/tests/fixtures/autocomplete_query.py
+++ b/backend/tests/fixtures/autocomplete_query.py
@@ -12,7 +12,6 @@ def autocomplete_query():
"facet_fields": [],
"facet_queries": [],
"filter_queries": [],
- "facet_mincount": 1,
"query_fields": "id^100 name^10 name_t^5 name_ac symbol^10 symbol_t^5 symbol_ac synonym synonym_t synonym_ac description_t xref",
"def_type": "edismax",
"q_op": "AND",
diff --git a/backend/tests/fixtures/autocomplete_response.py b/backend/tests/fixtures/autocomplete_response.py
index 12ce9e156..230abed5a 100644
--- a/backend/tests/fixtures/autocomplete_response.py
+++ b/backend/tests/fixtures/autocomplete_response.py
@@ -5,7 +5,7 @@
def autocomplete_response():
return {
"responseHeader": {
- "QTime": 1,
+ "QTime": 0,
"params": {
"mm": "100%",
"q": "fanc",
@@ -15,13 +15,12 @@ def autocomplete_response():
"start": "0",
"q.op": "AND",
"boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:Disease"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))',
- "facet.mincount": "1",
"rows": "10",
"facet": "true",
},
},
"response": {
- "num_found": 328,
+ "num_found": 326,
"start": 0,
"docs": [
{
@@ -67,27 +66,27 @@ def autocomplete_response():
"HP:0000028",
"HP:0001873",
"HP:0009778",
- "HP:0001896",
"HP:0009777",
+ "HP:0001000",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0001896",
"HP:0000568",
"HP:0001518",
"HP:0003221",
- "HP:0001000",
- "HP:0000252",
- "HP:0001249",
"HP:0009943",
"HP:0001627",
"HP:0000978",
"HP:0030680",
"HP:0001903",
"HP:0000957",
- "HP:0000815",
"HP:0001909",
"HP:0012210",
"HP:0000081",
"HP:0000085",
"HP:0003251",
- "HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
@@ -103,27 +102,27 @@ def autocomplete_response():
"Cryptorchidism",
"Thrombocytopenia",
"Short thumb",
- "Reticulocytopenia",
"Absent thumb",
+ "Abnormality of skin pigmentation",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Reticulocytopenia",
"Microphthalmia",
"Small for gestational age",
"Chromosomal breakage induced by crosslinking agents",
- "Abnormality of skin pigmentation",
- "Microcephaly",
- "Intellectual disability",
"Complete duplication of thumb phalanx",
"Abnormal heart morphology",
"Bruising susceptibility",
"Abnormal cardiovascular system morphology",
"Anemia",
"Cafe-au-lait spot",
- "Hypergonadotropic hypogonadism",
"Leukemia",
"Abnormal renal morphology",
"Duplicated collecting system",
"Horseshoe kidney",
"Male infertility",
- "Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
@@ -132,1939 +131,1893 @@ def autocomplete_response():
],
"has_phenotype_count": 34,
"has_phenotype_closure": [
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
+ "UPHENO:0051124",
+ "GO:0046483",
"UPHENO:0050116",
- "UPHENO:0049671",
+ "UPHENO:0049586",
+ "UPHENO:0049964",
"GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
+ "GO:0006950",
+ "GO:0051716",
+ "HP:0003213",
+ "UPHENO:0050121",
+ "GO:0051319",
+ "GO:0007049",
+ "HP:0003214",
"UPHENO:0052160",
"UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
+ "GO:0007605",
+ "GO:0009987",
+ "HP:0000365",
+ "UPHENO:0005596",
"UBERON:0002105",
- "UPHENO:0005517",
+ "UPHENO:0052159",
+ "UPHENO:0052970",
+ "UPHENO:0050625",
+ "UPHENO:0049699",
+ "UPHENO:0049703",
+ "GO:0006807",
"HP:0031704",
- "GO:0007605",
+ "UPHENO:0049989",
+ "UPHENO:0005512",
+ "GO:0050954",
+ "UPHENO:0005518",
"UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
"HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
+ "HP:0000708",
+ "NBO:0000444",
+ "UPHENO:0002219",
+ "NBO:0000338",
+ "UPHENO:0079828",
+ "GO:0007610",
+ "UPHENO:0002211",
+ "HP:0000496",
+ "HP:0011018",
+ "UBERON:0000015",
+ "UBERON:0010222",
+ "BFO:0000141",
+ "HP:0000486",
"UPHENO:0000543",
"HP:0001510",
"HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000789",
- "HP:0012041",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
"UPHENO:0041226",
+ "UPHENO:0041465",
+ "GO:0007600",
+ "UPHENO:0041075",
"UPHENO:0041629",
- "UPHENO:0080300",
- "HP:0000081",
- "HP:0004742",
"UPHENO:0075787",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "UPHENO:0053612",
- "HP:0100542",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
+ "UPHENO:0054970",
+ "UPHENO:0050234",
"UPHENO:0080662",
- "HP:0001903",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
+ "UPHENO:0054957",
"HP:0002597",
- "UPHENO:0002576",
- "UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004507",
- "UPHENO:0004827",
+ "HP:0001933",
+ "GO:0071704",
+ "MPATH:105",
+ "UPHENO:0002678",
+ "UBERON:0007798",
"MPATH:603",
- "UPHENO:0003086",
- "HP:0004377",
"MPATH:119",
+ "GO:0006139",
+ "HP:0011354",
+ "UBERON:0000477",
+ "MPATH:0",
+ "HP:0001892",
+ "MPATH:1000",
"UBERON:0000948",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0009142",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
- "UBERON:5101463",
- "HP:0001933",
+ "HP:0001627",
+ "HP:0030680",
+ "HP:0001626",
+ "UBERON:0001009",
+ "UPHENO:0050019",
+ "UBERON:0005181",
+ "UBERON:0005178",
"UBERON:0015063",
"UBERON:5106048",
+ "UBERON:5102389",
"UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
- "UBERON:0003620",
- "UBERON:0012358",
+ "UBERON:0011818",
+ "HP:0011314",
+ "UBERON:0015023",
+ "UBERON:0015024",
+ "UBERON:5101463",
+ "GO:0090304",
+ "UBERON:0012150",
+ "HP:0009942",
"HP:0009943",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "GO:0050877",
- "HP:0001249",
- "UPHENO:0002433",
- "HP:0012638",
- "UPHENO:0002267",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0076702",
- "UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
- "UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
- "UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
- "UBERON:0001890",
- "UPHENO:0050008",
- "UPHENO:0053610",
- "GO:0048523",
+ "UBERON:0003221",
+ "UBERON:0012357",
+ "GO:0005623",
+ "UPHENO:0049757",
+ "UPHENO:0049775",
+ "UPHENO:0050784",
+ "HP:0009602",
"UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "HP:0001939",
+ "NBO:0000313",
+ "GO:0010558",
+ "GO:0031327",
+ "UBERON:0000915",
+ "UPHENO:0050065",
"UPHENO:0049904",
+ "GO:0050794",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
+ "GO:0008152",
+ "GO:0051325",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0031323",
+ "UBERON:0004100",
+ "GO:0009892",
+ "UPHENO:0050025",
+ "UPHENO:0049622",
+ "UPHENO:0050435",
+ "UBERON:0000466",
+ "UPHENO:0049868",
+ "GO:0042592",
+ "UPHENO:0049743",
+ "UPHENO:0050063",
+ "UBERON:0002075",
+ "GO:0031049",
+ "GO:0031052",
"GO:0010556",
+ "GO:0031326",
"GO:0009890",
- "HP:0001000",
+ "HP:0011276",
+ "UBERON:0005897",
"GO:0010605",
"GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
+ "GO:0050789",
+ "HP:0003221",
+ "GO:0010629",
+ "UPHENO:0050040",
"UPHENO:0050778",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "HP:0003251",
- "GO:0008150",
- "UPHENO:0002378",
- "UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "GO:0040007",
+ "UPHENO:0010850",
"UPHENO:0054374",
+ "UBERON:0010543",
"HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
+ "UPHENO:0054304",
+ "UPHENO:0010808",
+ "GO:0006974",
+ "HP:0004323",
+ "UPHENO:0049874",
+ "UBERON:0010230",
+ "UPHENO:0049642",
+ "UBERON:0001456",
+ "UBERON:0004088",
+ "UBERON:0004456",
+ "UBERON:0000019",
+ "HP:0000568",
+ "HP:0000315",
"UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
"HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
- "UPHENO:3000007",
+ "HP:0011793",
+ "UPHENO:0002928",
+ "UPHENO:0087924",
+ "HP:0000478",
+ "UPHENO:0002866",
+ "HP:0100887",
+ "UPHENO:0002910",
+ "GO:0033554",
"UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
+ "HP:0000978",
+ "UPHENO:3000007",
"UPHENO:0069161",
- "UPHENO:0004757",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
- "UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
+ "UPHENO:0075219",
+ "HP:0001896",
"UPHENO:0052178",
- "UBERON:0011582",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UPHENO:0025545",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UPHENO:0025135",
- "GO:0060255",
- "UPHENO:0026074",
- "UPHENO:0011533",
- "UPHENO:9002003",
- "GO:0008152",
+ "UPHENO:0005517",
+ "UPHENO:0085263",
"UPHENO:0086002",
- "UPHENO:0025546",
- "UPHENO:0025509",
- "UPHENO:0075219",
- "UPHENO:0009295",
- "UBERON:0008785",
- "GO:0006139",
- "UPHENO:0041075",
- "UPHENO:0026108",
- "UBERON:0002102",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "HP:0002011",
- "UPHENO:0011492",
- "UPHENO:0025808",
- "HP:0006503",
- "UPHENO:0002782",
- "UBERON:5002544",
- "UPHENO:0026806",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0026239",
- "UPHENO:0003055",
- "UBERON:0002113",
- "UPHENO:0086633",
- "HP:0011893",
- "UPHENO:0002642",
- "UBERON:0005451",
- "GO:0007049",
- "UBERON:0003103",
- "UPHENO:0076703",
- "UBERON:0001444",
- "UBERON:0005177",
- "HP:0001911",
- "UPHENO:0027017",
- "UBERON:0002204",
- "UBERON:0000465",
- "HP:0009115",
- "UBERON:0002049",
+ "UPHENO:0088148",
+ "HP:0001877",
+ "HP:0004742",
+ "UBERON:0003620",
+ "HP:0012130",
+ "HP:0004312",
+ "UPHENO:0049588",
+ "CL:0000558",
+ "HP:0000815",
+ "UPHENO:0002386",
+ "UPHENO:0066927",
+ "UPHENO:0066925",
+ "HP:0000135",
+ "UPHENO:0002378",
+ "UPHENO:0066972",
+ "UPHENO:0066903",
+ "HP:0008373",
+ "GO:0034641",
+ "UPHENO:0049720",
+ "HP:0000929",
+ "UPHENO:0075220",
+ "UPHENO:0087472",
+ "UPHENO:0002553",
+ "UPHENO:0002844",
+ "UPHENO:0075804",
+ "HP:0009121",
+ "UBERON:0000033",
+ "HP:0000234",
+ "HP:0000144",
+ "HP:0001518",
+ "HP:0100547",
+ "UBERON:0001017",
+ "UBERON:0003129",
+ "HP:0002977",
+ "UBERON:0007811",
+ "OBI:0100026",
+ "HP:0012372",
+ "HP:0002060",
+ "NCBITaxon:33154",
+ "UPHENO:0005433",
+ "UPHENO:0002746",
+ "UPHENO:0003001",
"UBERON:0012151",
- "UBERON:0009569",
- "UPHENO:0008593",
- "UBERON:0012475",
+ "HP:0011017",
+ "NCBITaxon:33208",
"UPHENO:0002430",
- "UBERON:0005156",
- "UPHENO:0026486",
- "UPHENO:0026600",
- "UBERON:0005173",
- "UBERON:0004381",
- "UBERON:0013701",
- "UBERON:0015061",
- "HP:0001892",
- "UBERON:0001436",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0027014",
- "UPHENO:0074575",
- "HP:0011842",
- "HP:0009602",
- "UPHENO:0002736",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0087427",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UBERON:0011143",
- "UPHENO:0009011",
- "UPHENO:0011931",
- "UPHENO:0054304",
- "UBERON:0002091",
- "HP:0003953",
- "HP:0040070",
- "UPHENO:0003093",
- "UPHENO:0025585",
+ "UBERON:0002090",
+ "UPHENO:0049990",
+ "UPHENO:0003004",
+ "HP:0000252",
+ "UPHENO:0076776",
+ "NCBITaxon:6072",
+ "UBERON:0001893",
+ "UBERON:0001890",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UPHENO:0080200",
+ "HP:0000957",
+ "UBERON:0000481",
+ "NCBITaxon:1",
+ "UPHENO:0076805",
+ "UBERON:0000020",
+ "UPHENO:0003025",
+ "UBERON:0015025",
+ "HP:0002011",
+ "NCBITaxon:2759",
+ "UPHENO:0087518",
+ "UPHENO:0076791",
+ "UPHENO:3000000",
+ "HP:0040195",
+ "UPHENO:0053612",
+ "UPHENO:0050007",
+ "UPHENO:0053601",
+ "UPHENO:0053619",
+ "HP:0000086",
+ "HP:0012373",
+ "HP:0100542",
+ "UPHENO:0002945",
+ "UPHENO:0002944",
+ "UBERON:0010741",
+ "UPHENO:0026010",
+ "UPHENO:0025166",
+ "HP:0000707",
+ "HP:0000240",
+ "UPHENO:0086635",
+ "HP:0007400",
+ "HP:0033127",
+ "NBO:0000001",
+ "UBERON:0034925",
+ "UPHENO:0088176",
"UPHENO:0011548",
- "UPHENO:0025187",
- "HP:0001155",
- "UBERON:0012150",
- "UPHENO:0002754",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0004802",
- "UPHENO:0025631",
- "UPHENO:0003050",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0053644",
- "UPHENO:0069236",
- "UPHENO:0002964",
"UPHENO:0026096",
- "UPHENO:0025661",
- "UPHENO:0049586",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0001001",
- "UPHENO:0026507",
- "UBERON:0001008",
- "HP:0000077",
- "UPHENO:0002910",
- "UPHENO:0005214",
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+ "UPHENO:0002659",
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+ "UBERON:0015204",
+ "UPHENO:0080126",
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+ "UPHENO:0002323",
+ "UPHENO:0008487",
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- "HP:0006501",
- "HP:0002715",
- "HP:0001172",
+ "UPHENO:0079872",
+ "UPHENO:0009341",
+ "UPHENO:0026183",
+ "UPHENO:0026344",
+ "UBERON:0001444",
+ "UPHENO:0018390",
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+ "UBERON:0019231",
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+ "UBERON:0000475",
+ "UPHENO:0002559",
+ "UPHENO:0009391",
+ "UPHENO:0025631",
+ "UPHENO:0009010",
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+ "UPHENO:0002870",
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+ "UPHENO:0026074",
+ "UPHENO:0025544",
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+ "UPHENO:0081451",
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+ "UPHENO:0004507",
+ "UPHENO:0025961",
+ "UPHENO:0026643",
+ "UPHENO:0088186",
+ "UPHENO:0025852",
+ "UBERON:0012475",
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- "UPHENO:0011817",
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+ "UBERON:0015228",
+ "UPHENO:0025135",
+ "UBERON:0004288",
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- "UBERON:0004121",
"UPHENO:0003799",
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+ "UBERON:0010758",
+ "HP:0000002",
+ "HP:0000953",
+ "UPHENO:0076740",
+ "HP:0000271",
+ "UPHENO:0053571",
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+ "UPHENO:0001001",
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+ "HP:0003251",
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+ "HP:0000951",
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+ "HP:0010461",
+ "HP:0003220",
+ "UPHENO:0026811",
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+ "HP:0040012",
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+ "UBERON:0010703",
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+ "HP:0012041",
+ "UBERON:0004122",
+ "UPHENO:0002595",
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+ "UPHENO:0003049",
+ "GO:0008150",
+ "UPHENO:0008604",
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+ "UPHENO:0041821",
+ "UPHENO:0053643",
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- "UPHENO:0002983",
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- "UPHENO:0025961",
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+ "UPHENO:0084763",
+ "HP:0006501",
+ "HP:0012639",
+ "UPHENO:0003005",
+ "UPHENO:0076799",
+ "HP:0000119",
+ "UPHENO:0011566",
+ "UPHENO:0081511",
+ "UPHENO:0053610",
+ "UBERON:0004176",
+ "UPHENO:0008865",
+ "UPHENO:0079876",
+ "HP:0011355",
+ "UPHENO:0082875",
+ "HP:0000104",
+ "UPHENO:0011492",
+ "UPHENO:0026095",
+ "UPHENO:0010763",
+ "UPHENO:0025545",
+ "UPHENO:0025955",
+ "UPHENO:0076754",
"HP:0040072",
- "UPHENO:0046741",
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+ "CL:0000094",
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- "UPHENO:0084448",
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+ "UPHENO:0025883",
+ "HP:0040064",
+ "HP:0001167",
+ "HP:0002813",
"HP:0002818",
- "HP:0011875",
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- "BFO:0000020",
- "UPHENO:0026183",
+ "UBERON:0001690",
+ "UBERON:0015410",
+ "UPHENO:0002736",
"UPHENO:0086173",
- "UBERON:0000079",
+ "HP:0011875",
+ "CL:0000458",
+ "CL:0000457",
+ "HP:0004275",
+ "UBERON:0010314",
+ "UPHENO:0053633",
"HP:0001873",
- "NBO:0000001",
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- "HP:0012145",
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- "HP:0000478",
- "HP:0010461",
+ "UPHENO:0052231",
+ "HP:0000028",
+ "UPHENO:0085344",
+ "UPHENO:0002733",
+ "UPHENO:0002803",
+ "UBERON:0005172",
+ "UPHENO:0053572",
+ "UBERON:0000473",
"UPHENO:0053563",
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+ "HP:0001872",
+ "UPHENO:0084761",
+ "HP:0000811",
+ "UPHENO:0002682",
+ "HP:0000035",
+ "UPHENO:0011559",
+ "UPHENO:0002685",
+ "UPHENO:0024906",
+ "HP:0001876",
+ "HP:0000118",
+ "UPHENO:0002940",
+ "HP:0001871",
+ "UBERON:0000079",
+ "UBERON:0003135",
+ "UPHENO:0005097",
+ "UBERON:0009569",
+ "UPHENO:0002983",
+ "UBERON:0002398",
+ "UPHENO:0080209",
+ "UPHENO:0053561",
+ "HP:0005918",
"HP:0012243",
- "UBERON:0010538",
- "UPHENO:0053566",
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+ "UBERON:0005156",
"HP:0000032",
- "UBERON:0019231",
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- "UBERON:0012139",
- "UBERON:0002104",
- "UPHENO:0011568",
+ "UPHENO:0002381",
+ "UBERON:0011676",
+ "HP:0002973",
+ "HP:0001172",
+ "UPHENO:0076723",
+ "UBERON:0019221",
+ "UBERON:0000468",
+ "UPHENO:0087349",
+ "UBERON:0002389",
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+ "UPHENO:0069684",
+ "UBERON:0002390",
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+ "UPHENO:0069266",
+ "UBERON:0002470",
+ "UBERON:0012139",
+ "UPHENO:0002403",
+ "HP:0009381",
+ "UPHENO:0049952",
+ "HP:0040068",
+ "UPHENO:0002708",
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+ "UBERON:0005451",
+ "UBERON:0012140",
+ "UPHENO:0081566",
+ "BFO:0000020",
+ "UBERON:0012354",
+ "UPHENO:0002909",
+ "HP:0001000",
+ "HP:0012210",
+ "UBERON:0008962",
+ "UBERON:0001463",
+ "HP:0005922",
+ "UPHENO:0078606",
+ "HP:0006265",
+ "UPHENO:0087510",
+ "UBERON:5002544",
+ "UPHENO:0074575",
+ "UPHENO:0046707",
"UPHENO:0069327",
- "HP:0011017",
- "UBERON:0002405",
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- "HP:0001877",
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- "UPHENO:0088148",
- "HP:0011927",
- "CL:0000558",
- "UPHENO:0011825",
+ "UBERON:0001015",
+ "UPHENO:0069062",
+ "UPHENO:0000541",
+ "UBERON:0001436",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0003020",
+ "UBERON:0005944",
+ "UBERON:0000991",
+ "UPHENO:0046750",
+ "UPHENO:0049671",
+ "HP:0009601",
"UPHENO:0008668",
+ "UPHENO:0068971",
+ "CL:0000225",
+ "UPHENO:0046741",
+ "UBERON:0002544",
+ "UPHENO:0026308",
+ "UBERON:0003133",
+ "UBERON:5006048",
+ "UBERON:5002389",
+ "UPHENO:0025845",
+ "UPHENO:0075195",
+ "UPHENO:0002352",
+ "UBERON:0015001",
+ "HP:0001155",
+ "UPHENO:0046411",
+ "UPHENO:0001002",
+ "UPHENO:0012308",
+ "UPHENO:0008548",
+ "HP:0000085",
+ "UPHENO:0026108",
+ "UPHENO:0002576",
+ "BFO:0000003",
+ "GO:0043473",
+ "UPHENO:0049587",
+ "BFO:0000015",
+ "UPHENO:0027017",
+ "HP:0012638",
+ "HP:0011927",
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+ "UBERON:0002049",
+ "UPHENO:0011533",
+ "UBERON:0001016",
+ "UPHENO:0002269",
],
"has_phenotype_closure_label": [
- "primary metabolic process",
- "cellular response to stimulus",
"response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
"interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
+ "ear",
"sensory perception",
- "Abnormality of the ear",
"decreased sensory perception",
- "cell cycle",
+ "decreased nervous system process",
"decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
"decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
"anatomical line",
- "ectoderm-derived structure physiology phenotype",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
"eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
"size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
- "Male infertility",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Decreased fertility in males",
"Decreased fertility",
- "shape kidney",
- "Abnormal localization of kidney",
+ "Male infertility",
+ "3-D shape anatomical entity",
+ "Abnormality of eye movement",
"concave 3-D shape anatomical entity",
"shape anatomical entity",
"Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
"Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
"Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "ear phenotype",
- "increased pigmentation",
- "glandular system",
- "Cafe-au-lait spot",
- "Hypermelanotic macule",
- "Hyperpigmentation of the skin",
+ "Leukemia",
+ "neoplasm phenotype",
+ "biological_process rate phenotype",
"increased qualitatively biological_process",
- "anatomical cluster",
- "Abnormal bleeding",
+ "Localized skin lesion",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
+ "Macule",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
"Generalized abnormality of skin",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "heart phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "circulatory organ phenotype",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
+ "Vascular skin abnormality",
+ "vasculature",
"Abnormal heart morphology",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "Abnormality of the cardiovascular system",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "Duplication of thumb phalanx",
"Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
"manual digit 1 phalanx",
- "phalanx of manus",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
"phalanx",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "macromolecule metabolic process",
- "Intellectual disability",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Neurodevelopmental abnormality",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of skin pigmentation",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
"regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
+ "regulation of biosynthetic process",
"negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
"regulation of cellular biosynthetic process",
+ "DNA metabolic process",
"negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "decreased qualitatively system process",
- "Abnormality of the nervous system",
- "biological regulation phenotype",
- "regulation of gene expression",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
+ "Chromosomal breakage induced by crosslinking agents",
"negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
"multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
"camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
"Abnormality of the eye",
- "eye",
- "face",
+ "face phenotype",
"orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
+ "sense organ",
"Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
"eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent radius bone in the forelimb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "Short stature",
- "radius bone",
- "absent compound organ in the renal system",
- "blood cell",
- "Abnormality of the immune system",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "decreased biological_process",
- "Absent radius",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "material anatomical entity phenotype",
- "head morphology phenotype",
- "immune system phenotype",
- "cell",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
+ "enucleated reticulocyte morphology phenotype",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "immaterial entity",
+ "Abnormality of chromosome stability",
+ "anatomical entity dysfunction in independent continuant",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "decreased functionality of the organ",
+ "reproductive system physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the material anatomical entity",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the anatomical entity",
+ "endocrine system phenotype",
+ "Opisthokonta",
+ "Abnormal brain morphology",
+ "Abnormal skull morphology",
+ "Abnormality of head or neck",
+ "regional part of nervous system",
+ "brain",
+ "regional part of brain",
+ "craniocervical region phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "cranial skeletal system",
+ "structure with developmental contribution from neural crest",
+ "head phenotype",
+ "telencephalon",
+ "Abnormal axial skeleton morphology",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "organism",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "size of skull phenotype",
+ "craniocervical region",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormality of body weight",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased multicellular organismal process",
+ "root",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "postcranial axial skeleton",
+ "axial skeleton plus cranial skeleton",
+ "structure with developmental contribution from neural crest phenotype",
+ "organic substance metabolic process",
+ "heart",
+ "Abnormality of the head",
+ "Infertility",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "kinesthetic behavior",
+ "Eumetazoa",
+ "skull phenotype",
+ "telencephalon morphology phenotype",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
+ "localised cavitated compound organ",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "localised trunk region element",
+ "Abnormal localization of kidney",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "Aplasia involving bones of the extremities",
+ "All",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "G2 phase",
"nervous system phenotype",
+ "paired limb/fin segment phenotype",
+ "Aplasia involving bones of the upper limbs",
+ "Morphological central nervous system abnormality",
+ "Abnormality of the urinary system",
+ "limb long bone",
+ "eye",
+ "compound organ",
+ "zeugopodial skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "genitourinary system",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
"limb phenotype",
- "absent bone of pectoral complex in the forelimb",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "absent bone of pectoral complex in the limb",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "trunk phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent kidney in the renal system",
- "Abnormal finger phalanx morphology",
+ "paired limb/fin skeleton",
+ "agenesis of anatomical entity",
+ "absent bone of free limb or fin in the limb",
+ "absent lateral structure",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "subdivision of skeleton",
+ "decreased length of autopodial extension",
+ "ectoderm-derived structure",
+ "bone of appendage girdle complex",
+ "Abnormal forebrain morphology",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "pathological phenotype observation",
+ "decreased functionality of the gonad",
"decreased size of the anatomical entity in the pectoral complex",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "aplastic forelimb zeugopod bone",
+ "absent limb bone in the limb",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "absent arm bone in the forelimb",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "cardiovascular system",
+ "absent skeletal element",
+ "aplastic anatomical entity",
+ "arm phenotype",
+ "hematopoietic system",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "testis phenotype",
+ "upper urinary tract phenotype",
+ "absent compound organ",
+ "decreased size of the organism subdivision",
+ "Renal hypoplasia/aplasia",
+ "digit phenotype",
+ "renal system",
+ "absent manual digit",
+ "absent anatomical entity in the renal system",
+ "cell",
+ "limb",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "main body axis",
+ "gonad physiology phenotype",
+ "forebrain",
"myeloid leukocyte phenotype",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "absent abdomen element in the renal system",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "subdivision of trunk phenotype",
- "abdominal segment element phenotype",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
+ "localised multicellular anatomical structure",
+ "excretory system",
+ "cellular process",
+ "long bone morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "absent material anatomical entity in the multicellular organism",
"lateral structure phenotype",
- "material anatomical entity mass phenotype",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "absent trunk region element in the renal system",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "forelimb long bone",
+ "localised male reproductive organ",
+ "Abnormal conjugate eye movement",
+ "forelimb bone",
+ "renal/urinary system phenotype",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "appendicular skeletal system",
+ "Renal agenesis",
+ "Abnormality of the kidney",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "cell cycle",
+ "pectoral complex",
+ "decreased size of the material anatomical entity",
"body proper",
- "face morphology phenotype",
- "subdivision of trunk",
- "absent forelimb long bone in the forelimb",
- "endocrine system phenotype",
- "reproductive system",
- "organism subdivision phenotype",
- "absent multicellular anatomical structure in the renal system",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "upper limb segment phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "multicellular anatomical structure",
- "absent material anatomical entity in the renal system",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "continuant",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "cellular process phenotype",
"absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "heart",
- "limb bone phenotype",
- "renal system",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "absent bone element in the forelimb",
- "lateral structure",
- "absent lateral structure in the renal system",
- "organ phenotype",
- "skeleton",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "genitourinary system phenotype",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "number of anatomical enitites of type kidney phenotype",
- "bone cell",
- "trunk region element phenotype",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "forelimb",
- "digit 1 or 5",
+ "Abnormality of the upper urinary tract",
"number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "number of anatomical enitites of type abdomen element phenotype",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "bone of appendage girdle complex phenotype",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
"central nervous system morphology phenotype",
- "organism subdivision",
- "kidney",
- "reproductive organ phenotype",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "abdominal segment of trunk",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "number of leukocyte phenotype",
- "localised reproductive organ",
- "absent bone of free limb or fin",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "musculature of body phenotype",
- "skin of body morphology phenotype",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "anatomical structure",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "skin of body phenotype",
- "Decreased head circumference",
- "absent bone of free limb or fin in the limb",
- "material anatomical entity",
- "Chromosomal breakage induced by crosslinking agents",
+ "Abnormality of the nervous system",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "Absent thumb",
+ "absent radius endochondral element",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "renal system phenotype",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "Abnormal renal morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
+ "compound organ phenotype",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "arm",
+ "Anemic pallor",
+ "absent limb long bone in the forelimb",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "leukocyte",
+ "simple eye phenotype",
+ "abdomen element",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
"multicellular organism phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "anatomical entity phenotype",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormal skeletal morphology",
- "skeletal element phenotype",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "anatomical collection",
- "organ",
+ "external genitalia phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "anatomical system",
+ "decreased number of platelet",
"decreased number of anatomical entity",
- "absent kidney",
- "forelimb morphology phenotype",
- "Abnormal granulocyte count",
- "long bone",
- "decreased number of leukocyte",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "absent lateral structure",
+ "absent anatomical structure in the forelimb",
+ "integument phenotype",
+ "biological regulation",
+ "absent trunk region element",
+ "abdominal segment of trunk",
+ "Abnormal cellular phenotype",
+ "Duplication of phalanx of hand",
"number of anatomical enitites of type cavitated compound organ phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "multicellular organism",
- "absent bone of appendage girdle complex in the limb",
- "absent organ",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal limb bone morphology",
- "quality",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "limb segment",
- "superficial fascia",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "enucleated reticulocyte morphology phenotype",
- "granulocyte",
- "nucleate cell",
- "bone marrow",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
+ "reproductive structure physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
+ "musculature",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "decreased size of the autopodial extension",
+ "absent bone of pectoral complex in the limb",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "limb endochondral element",
+ "absent limb bone",
+ "Abnormal cell morphology",
+ "phenotype",
+ "eye phenotype",
"Abnormal cellular immune system morphology",
- "autopodial extension phenotype",
- "myeloid leukocyte",
- "decreased number of material anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "neutrophil",
- "absent anatomical structure in the limb",
"skeletal element",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "Growth abnormality",
- "skeletal system phenotype",
- "regulation of biological process",
- "manual digit",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "material entity",
- "leukocyte",
- "Abnormal granulocyte morphology",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
+ "regulation of biosynthetic process phenotype",
"zeugopod",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "hematopoietic cell",
- "absent forelimb zeugopod bone",
- "digit 1 digitopodial skeleton",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
+ "radius endochondral element",
+ "taxon specific phenotype",
+ "granulocyte morphology phenotype",
+ "biological phase",
+ "autopod bone",
+ "mesoderm-derived structure",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "renal collecting system",
+ "Ectopic kidney",
+ "immune system morphology phenotype",
"cell phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "eukaryotic cell",
- "skull",
- "Abnormality of the hand",
- "Short thumb",
- "Abnormality of the genitourinary system",
- "macromolecule metabolic process phenotype",
+ "obsolete cell",
"programmed DNA elimination",
- "system",
- "Thrombocytopenia",
- "Short finger",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "phenotypic effect",
- "number of myeloid cell phenotype",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "Abnormality of blood and blood-forming tissues",
- "hematopoietic system",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "Abnormal cellular phenotype",
+ "anatomical entity morphology phenotype",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "localised kidney",
+ "absent anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "decreased number of anatomical structure",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "platelet phenotype",
+ "integument",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormality of the integument",
+ "primary metabolic process",
+ "forelimb endochondral element",
"Abnormality of the skin",
- "absent arm bone in the forelimb",
- "absent forelimb long bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Neutropenia",
+ "Microcephaly",
+ "multi-tissue structure phenotype",
+ "Abnormality of the musculoskeletal system",
+ "circulatory system",
+ "bone marrow cell",
+ "regulation of gene expression phenotype",
+ "brain morphology phenotype",
+ "system",
+ "absent forelimb bone in the forelimb",
+ "multicellular organism morphology phenotype",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
"number of anatomical enitites of type neutrophil phenotype",
- "All",
- "Abnormal eye morphology",
- "appendicular skeleton",
- "male organism phenotype",
- "Abnormality of the male genitalia",
- "Pallor",
- "reproductive structure phenotype",
- "decreased number of hematopoietic cell",
- "absent anatomical entity in the renal system",
- "autopod region morphology phenotype",
- "skeletal system morphology phenotype",
- "decreased number of cell",
- "growth",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
"entity",
- "subdivision of organism along appendicular axis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "subdivision of organism along main body axis",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "Abnormality of multiple cell lineages in the bone marrow",
"specifically dependent continuant",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased number of neutrophil",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "skeletal system",
- "absent multicellular anatomical structure in the limb",
- "musculature of body",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
+ "arm bone",
+ "absent kidney",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "forelimb long bone phenotype",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
"anatomical structure phenotype",
- "absent limb bone in the limb",
- "lateral structure physiology phenotype",
+ "forelimb zeugopod skeleton",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "bone of free limb or fin phenotype",
"Abnormal erythroid lineage cell morphology",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "absent abdominal segment element",
- "endochondral bone",
- "absent bone of appendage girdle complex",
- "oxygen accumulating cell",
+ "myeloid cell",
+ "immune system",
+ "Absent forearm bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
"Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "main body axis",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
+ "pectoral appendage skeleton",
+ "limb long bone morphology phenotype",
+ "Abnormality of skin pigmentation",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "absent anatomical structure in the limb",
+ "absent anatomical entity",
"integumental system",
- "aplasia or hypoplasia of skeleton",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "erythroid lineage cell morphology phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
+ "granulocyte",
"Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "Renal hypoplasia/aplasia",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "external genitalia",
- "aplasia or hypoplasia of manual digit",
- "eye movement",
- "Infertility",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent radius endochondral element in the forelimb",
- "Abnormality of the vasculature",
- "pectoral appendage",
- "bone element",
- "gonad",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
"limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
+ "absent bone element in the limb",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "Growth delay",
+ "kidney",
+ "decreased size of the multicellular organism",
+ "Abnormality of skull size",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "neutrophil phenotype",
+ "external male genitalia",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "skin of body phenotype",
+ "Abnormal granulocyte count",
+ "absent bone of appendage girdle complex in the limb",
+ "number of cell phenotype",
+ "number of leukocyte phenotype",
+ "platelet",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "multi-tissue structure",
"limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "absent compound organ",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "absent bone element",
"paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "non-connected functional system",
- "gonad phenotype",
- "motile cell",
"decreased size of the digit",
- "regional part of nervous system phenotype",
+ "decreased number of material anatomical entity",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical structure mass phenotype",
+ "decreased functionality of the anatomical structure",
+ "multicellular organism",
+ "Thrombocytopenia",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "long bone",
+ "material entity",
+ "anatomical entity phenotype",
+ "appendage",
+ "localised testis",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent organ",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
"Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
+ "absent lateral structure in the renal system",
+ "absent abdominal segment element",
+ "decreased size of the anatomical entity",
+ "absent material anatomical entity",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "absent abdominal segment element in the renal system",
+ "motile cell",
+ "skeletal system",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "absent abdomen element",
+ "neutrophil",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "continuant",
+ "absent bone of free limb or fin in the forelimb",
+ "manual digit 1 phalanx endochondral element",
+ "forelimb zeugopod bone morphology phenotype",
+ "tissue",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "anatomical structure",
+ "Abnormal bleeding",
+ "immune system phenotype",
+ "skeleton",
+ "paired limb/fin segment",
+ "erythrocyte morphology phenotype",
+ "skeletal element phenotype",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "oxygen accumulating cell",
+ "protein-containing material entity",
+ "segment of manus",
+ "eukaryotic cell",
+ "absent radius bone in the forelimb",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "hematopoietic system phenotype",
+ "ectoderm-derived structure phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forelimb endochondral element phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "Pancytopenia",
+ "acropodium region",
+ "Abnormal skin morphology",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "decreased length of material anatomical entity",
+ "absent organ in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "DNA metabolic process phenotype",
+ "hemolymphoid system",
+ "multi-limb segment region phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "renal system morphology phenotype",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "non-material anatomical boundary",
+ "erythroid lineage cell",
+ "absent limb bone in the forelimb",
"Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "digit 1 plus metapodial segment",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "nervous system physiology phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "manus phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "decreased length of anatomical structure",
+ "absent anatomical structure in the skeletal system",
"absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "behavior phenotype",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "decreased functionality of the multicellular anatomical structure",
+ "decreased length of manual digit 1 or 5",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type bone element phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Abnormal cerebral morphology",
+ "absent endochondral element in the limb",
+ "limb segment phenotype",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "multi-limb segment region",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb bone phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "decreased size of the sense organ",
+ "quality",
+ "anatomical collection phenotype",
+ "subdivision of head",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
+ "cellular response to stimulus phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "Reticulocytopenia",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "Abnormality of the genital system",
+ "vestibulo-auditory system",
"absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "arm bone phenotype",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "serotonin secreting cell",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "absent long bone in the forelimb",
+ "manual digit 1 morphology phenotype",
+ "absent organ in the limb",
+ "Abnormal leukocyte morphology",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "Abnormal platelet morphology",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "central nervous system",
"Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
- "appendage girdle complex",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "long bone phenotype",
- "testis",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Decreased fertility in males",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
"absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
+ "absent endochondral bone in the forelimb",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "Abnormality of the immune system",
+ "Abnormal nervous system physiology",
+ "limb bone morphology phenotype",
+ "delayed growth",
+ "arm bone phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "limb endochondral element phenotype",
+ "anatomical entity length phenotype",
+ "digit",
+ "sensory perception of mechanical stimulus",
+ "skin of body",
+ "Abnormal upper limb bone morphology",
+ "bone of pectoral complex phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "endochondral element",
+ "skeleton of pectoral complex",
+ "forelimb zeugopod morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "absent forelimb endochondral element in the limb",
+ "appendage phenotype",
+ "organism subdivision phenotype",
+ "Abnormality of limbs",
+ "bone of pectoral complex morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "absent long bone",
"Aplasia/hypoplasia involving the skeleton",
- "localised testis",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "aplasia or hypoplasia of radius bone",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
"absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "cavitated compound organ phenotype",
- "biogenic amine secreting cell",
- "cell cycle phenotype",
- "platelet",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
+ "localised organ",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "anatomical entity physiology phenotype",
"absent mesoderm-derived structure in the multicellular organism",
+ "cognition",
+ "endochondral bone phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "decreased length of manual digit",
+ "Aplasia/hypoplasia involving forearm bones",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "absent forelimb zeugopod bone",
+ "forelimb zeugopod bone phenotype",
+ "Abnormal finger phalanx morphology",
+ "pigmentation",
+ "shape of continuant phenotype",
"anucleate cell",
- "Eumetazoa",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "serotonin secreting cell",
"Abnormality of thrombocytes",
- "reproductive structure",
- "male reproductive organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "anatomical entity morphology in the manus phenotype",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "localised anatomical structure",
+ "testis",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "nucleate cell",
+ "reproductive structure phenotype",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
"male reproductive organ",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "Cryptorchidism",
- "thoracic cavity element",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "multicellular anatomical structure phenotype",
+ "absent arm bone",
"reproductive organ",
- "Abnormality of head or neck",
+ "gonad phenotype",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "localised material anatomical entity",
+ "Aplasia/Hypoplasia of fingers",
+ "Neutropenia",
+ "reproductive structure",
"external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
- "localised gonad",
- "primary circulatory organ",
- "head phenotype",
- "anatomical entity",
- "localised organ",
+ "Abnormality of mental function",
+ "increased biological_process in skin of body",
"localised anatomical entity",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
+ "decreased size of the multicellular anatomical structure",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "autopodial skeleton",
+ "ectoderm-derived structure physiology phenotype",
+ "shape kidney",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "manual digit",
+ "abdomen",
"manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
+ "decreased length of organism subdivision",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "subdivision of trunk",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
+ "anterior region of body",
+ "decreased length of manual digit 1",
"skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
+ "digitopodium region",
+ "camera-type eye phenotype",
+ "manus",
+ "Anemia",
+ "manus bone",
+ "radius bone",
+ "Abnormality of the hand",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "digit 1",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "decreased length of multicellular anatomical structure",
+ "digit 1 phenotype",
+ "Abnormal digit morphology",
+ "absent abdomen element in the renal system",
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "autopodial extension phenotype",
+ "manual digit plus metapodial segment",
+ "manual digit phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "pigmentation phenotype",
+ "Short thumb",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
+ "absent multicellular anatomical structure in the renal system",
+ "Short digit",
+ "upper urinary tract",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormality of the male genitalia",
"manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
+ "decreased length of digit",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "organ",
+ "decreased size of the anatomical structure",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
"Abnormal erythrocyte morphology",
- "aplastic manual digit 1",
+ "Abnormal finger morphology",
+ "Subcutaneous hemorrhage",
+ "absent organism subdivision in the multicellular organism",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "absent organism subdivision",
+ "Neurodevelopmental abnormality",
+ "absent autopodial extension",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "genitourinary system phenotype",
+ "biological_process",
+ "process",
+ "Duplication of hand bones",
+ "nervous system process",
+ "anatomical structure physiology phenotype",
+ "bone marrow",
+ "Intellectual disability",
+ "system process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype",
],
},
{
@@ -2089,20 +2042,27 @@ def autocomplete_response():
],
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0000470",
+ "HP:0007018",
+ "HP:0009777",
+ "HP:0002575",
+ "HP:0000238",
+ "HP:0040012",
+ "HP:0000465",
+ "HP:0000582",
+ "HP:0008551",
+ "HP:0004590",
+ "HP:0000316",
+ "HP:0002188",
"HP:0001776",
"HP:0000369",
"HP:0000347",
"HP:0003974",
- "HP:0000465",
- "HP:0007018",
"HP:0001510",
"HP:0001511",
- "HP:0009777",
"HP:0000568",
"HP:0009892",
- "HP:0004590",
"HP:0000151",
- "HP:0000470",
"HP:0001263",
"HP:0003221",
"HP:0002032",
@@ -2111,36 +2071,36 @@ def autocomplete_response():
"HP:0000431",
"HP:0000175",
"HP:0000054",
- "HP:0002575",
"HP:0005528",
- "HP:0000238",
"HP:0000437",
- "HP:0000316",
- "HP:0040012",
- "HP:0008551",
"HP:0001903",
"HP:0000957",
"HP:0000122",
"HP:0000089",
"HP:0002023",
- "HP:0002188",
- "HP:0000582",
],
"has_phenotype_label": [
+ "Short neck",
+ "Attention deficit hyperactivity disorder",
+ "Absent thumb",
+ "Tracheoesophageal fistula",
+ "Hydrocephalus",
+ "Chromosome breakage",
+ "Webbed neck",
+ "Upslanted palpebral fissure",
+ "Microtia",
+ "Hypoplastic sacrum",
+ "Hypertelorism",
+ "Delayed CNS myelination",
"Bilateral talipes equinovarus",
"Low-set ears",
"Micrognathia",
"Absent radius",
- "Webbed neck",
- "Attention deficit hyperactivity disorder",
"Growth delay",
"Intrauterine growth retardation",
- "Absent thumb",
"Microphthalmia",
"Anotia",
- "Hypoplastic sacrum",
"Aplasia of the uterus",
- "Short neck",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
"Esophageal atresia",
@@ -2149,2499 +2109,2372 @@ def autocomplete_response():
"Wide nasal bridge",
"Cleft palate",
"Micropenis",
- "Tracheoesophageal fistula",
"Bone marrow hypocellularity",
- "Hydrocephalus",
"Depressed nasal tip",
- "Hypertelorism",
- "Chromosome breakage",
- "Microtia",
"Anemia",
"Cafe-au-lait spot",
"Unilateral renal agenesis",
"Renal hypoplasia",
"Anal atresia",
- "Delayed CNS myelination",
- "Upslanted palpebral fissure",
],
"has_phenotype_count": 36,
"has_phenotype_closure": [
- "UBERON:0035639",
- "HP:0000582",
- "HP:0030669",
- "UBERON:0001711",
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- "UBERON:0000161",
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- "HP:0004378",
+ "UPHENO:0063577",
+ "UPHENO:0063599",
"UPHENO:0074227",
- "UPHENO:0063581",
- "HP:0034915",
- "HP:0002023",
"UBERON:0001245",
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+ "UPHENO:0074230",
+ "UPHENO:0081210",
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+ "UPHENO:0006147",
+ "UBERON:0011676",
+ "HP:0000175",
+ "UPHENO:0074360",
+ "UBERON:0000464",
+ "UPHENO:0011533",
+ "UPHENO:0076786",
+ "UPHENO:0033565",
+ "UPHENO:0052855",
"UPHENO:0033560",
- "UBERON:0000466",
- "UPHENO:0081314",
- "UPHENO:0002962",
- "UPHENO:0033612",
+ "UPHENO:0033599",
+ "UPHENO:0025883",
+ "UPHENO:0033635",
+ "UPHENO:0002654",
"UBERON:0002553",
- "UBERON:0007827",
- "UPHENO:0033587",
- "HP:0000202",
- "UBERON:0001004",
- "UPHENO:0002526",
- "OBI:0100026",
+ "UBERON:0001709",
"UPHENO:0033589",
- "UPHENO:0086824",
- "UPHENO:0002891",
- "UBERON:0004732",
- "HP:0000175",
- "UPHENO:0009021",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0026097",
- "UPHENO:0002595",
- "HP:0003241",
+ "UPHENO:0002838",
+ "CL:0000763",
+ "UPHENO:0052778",
+ "HP:0000202",
+ "UPHENO:0075655",
+ "HP:0000050",
+ "HP:0040072",
+ "UBERON:0004053",
+ "UBERON:0008811",
+ "UBERON:0000989",
+ "UPHENO:0014240",
+ "UPHENO:0081566",
+ "UPHENO:0003082",
"HP:0000054",
- "UBERON:0007779",
- "UBERON:0003135",
+ "UBERON:0005944",
+ "UBERON:0001716",
"UBERON:0000079",
- "UPHENO:0002682",
- "UPHENO:0002530",
- "UPHENO:0002765",
- "UPHENO:0005025",
- "UBERON:0001708",
+ "HP:0001871",
+ "UPHENO:0011566",
+ "UBERON:0006077",
+ "HP:0010461",
+ "UPHENO:0076727",
"UPHENO:0002697",
- "UPHENO:0003058",
- "UBERON:0004053",
+ "HP:0001155",
"UBERON:0003101",
- "UPHENO:0008816",
"HP:0000032",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UPHENO:0002754",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "HP:0002778",
- "UBERON:0002193",
- "UBERON:0002390",
- "UPHENO:0002651",
- "UBERON:0002371",
- "UPHENO:0003065",
+ "HP:0000119",
"HP:0005528",
- "HP:0006265",
- "HP:0000811",
- "HP:0001871",
- "HP:0012145",
+ "UPHENO:0004459",
+ "HP:0001903",
+ "UPHENO:0002693",
+ "HP:0005561",
"UBERON:0000479",
- "UBERON:0004086",
- "UPHENO:0014351",
- "UPHENO:0014292",
- "UPHENO:0088047",
- "UPHENO:0015184",
- "UBERON:0001359",
- "UPHENO:0014761",
- "NCBITaxon:131567",
- "UPHENO:0014291",
- "UPHENO:0014865",
- "UPHENO:0056158",
- "UBERON:0002103",
- "UBERON:0003947",
- "HP:0002921",
- "UPHENO:0088185",
- "UBERON:0000463",
- "UPHENO:0011845",
- "UPHENO:0063615",
- "UPHENO:0056251",
- "UBERON:0001137",
- "UPHENO:0056150",
- "UBERON:0006983",
- "HP:0000436",
+ "HP:0025461",
"UPHENO:0087430",
- "UPHENO:0041098",
- "UPHENO:0002837",
- "UPHENO:0025508",
- "UBERON:0034929",
- "UBERON:0001709",
- "UPHENO:0002668",
- "UBERON:0001474",
- "GO:0009892",
- "UPHENO:0002727",
- "UBERON:0000015",
- "UPHENO:0072195",
- "HP:0001321",
- "UPHENO:0018424",
- "UPHENO:0025544",
- "UPHENO:0002864",
- "UPHENO:0072200",
- "UBERON:0001005",
- "UPHENO:0005016",
- "UPHENO:0072194",
- "HP:0001776",
- "UPHENO:0072185",
- "UPHENO:0002887",
- "UBERON:0010222",
- "UPHENO:0009192",
- "CL:0001035",
- "UPHENO:0081119",
- "UPHENO:0088162",
- "UPHENO:0026183",
- "CL:0000081",
- "CL:0000232",
- "HP:0000924",
- "HP:0012130",
+ "UPHENO:0081511",
+ "HP:0000437",
+ "UPHENO:0041203",
"CL:0000764",
- "UPHENO:0088170",
- "HP:0001903",
- "HP:0001877",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
+ "UBERON:0002405",
+ "NCBITaxon:2759",
+ "HP:0012130",
+ "CL:0000232",
+ "UPHENO:0054957",
+ "UPHENO:0074575",
+ "UBERON:0002416",
+ "UBERON:0002199",
+ "UBERON:0002097",
+ "HP:0001574",
+ "GO:0043473",
],
"has_phenotype_closure_label": [
- "multi organ part structure phenotype",
- "Slanting of the palpebral fissure",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eyelid",
- "palpebral fissure",
- "Abnormality of the palpebral fissures",
- "multi organ part structure",
- "Upslanted palpebral fissure",
- "delayed axon ensheathment in central nervous system",
- "Abnormal CNS myelination",
- "myelination phenotype",
- "cellular developmental process",
- "delayed cellular process",
- "central nervous system development",
- "axon ensheathment in central nervous system",
- "glial cell differentiation",
- "glial cell development",
- "ensheathment of neurons phenotype",
- "central nervous system myelination phenotype",
- "cellular process",
- "delayed central nervous system myelination",
- "delayed ensheathment of neurons",
- "axon ensheathment in central nervous system phenotype",
- "oligodendrocyte differentiation",
- "gliogenesis",
- "axon ensheathment",
- "cell development",
- "delayed myelination",
- "Abnormal anus morphology",
- "orifice",
- "anus phenotype",
- "anus atresia",
- "Abnormality of the anus",
- "anatomical conduit atresia",
"anus",
- "orifice phenotype",
+ "anatomical conduit atresia",
+ "anus morphology phenotype",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "orifice atresia",
+ "closing of the ectoderm-derived structure",
+ "Renal hypoplasia",
"kidney hypoplasia",
- "absent abdomen element",
- "number of anatomical enitites of type compound organ phenotype",
- "absent trunk region element in the renal system",
- "renal system morphology phenotype",
- "absent kidney in the renal system",
- "excretory system",
- "absent abdomen element in the renal system",
"upper urinary tract",
- "kidney phenotype",
+ "absent multicellular anatomical structure in the renal system",
+ "upper urinary tract phenotype",
+ "absent compound organ",
+ "kidney morphology phenotype",
"Renal hypoplasia/aplasia",
- "absent cavitated compound organ in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "renal/urinary system phenotype",
- "absent kidney",
- "Unilateral renal agenesis",
- "absent anatomical structure in the renal system",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
"abdomen element phenotype",
- "abdomen element",
- "number of anatomical enitites of type cavitated compound organ phenotype",
+ "renal system",
+ "absent compound organ in the renal system",
+ "excretory system",
+ "number of anatomical enitites of type kidney phenotype",
"cavitated compound organ",
+ "absent organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "absent lateral structure in the renal system",
+ "Abnormal anus morphology",
+ "compound organ phenotype",
"abdomen",
- "Irregular hyperpigmentation",
- "integumental system",
- "Abnormality of the integument",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
+ "absent cavitated compound organ",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent trunk region element in the multicellular organism",
"renal system phenotype",
- "integument phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of the hand",
- "skull",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "absent organism subdivision",
- "head bone",
- "skeleton of manus",
- "Abnormal hand morphology",
- "manual digit 1",
- "bone of appendage girdle complex",
- "upper jaw region",
- "manual digit morphology in the manus phenotype",
- "manual digit 1 plus metapodial segment",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "head",
- "regional part of brain",
+ "absent cavitated compound organ in the renal system",
+ "renal/urinary system phenotype",
+ "Abnormality of the upper urinary tract",
+ "kidney phenotype",
+ "absent abdomen element",
+ "number of anatomical enitites of type compound organ phenotype",
+ "absent anatomical structure in the renal system",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "Irregular hyperpigmentation",
+ "kidney",
+ "bony pelvis",
+ "Abnormal sacrum morphology",
+ "aplastic manual digit 1",
+ "trunk region element phenotype",
+ "aplasia or hypoplasia of vertebral column",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
"manus morphology phenotype",
- "absent uterus",
+ "sacral region",
"reproductive system",
- "embryo development rate phenotype",
- "paired limb/fin segment",
- "cerebellum",
- "decreased qualitatively embryo development",
- "absent material anatomical entity in the head",
- "absent material anatomical entity in the reproductive system",
- "skin of body",
- "multicellular organism development phenotype",
- "male reproductive system phenotype",
- "developmental process",
- "anatomical structure development phenotype",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "developmental process rate phenotype",
- "ensheathment of neurons",
- "subdivision of head",
- "growth",
- "entity",
- "Growth delay",
- "respiratory system",
- "Hypoplastic facial bones",
- "absent multicellular anatomical structure in the renal system",
- "attention behavior",
- "multicellular organism development",
- "Abnormal volitional state",
+ "sacral region of vertebral column phenotype",
+ "trachea",
+ "Aplasia/Hypoplasia of the sacrum",
+ "endoderm-derived structure",
+ "trunk region element",
+ "Abnormal pinna morphology",
+ "dorsal part of neck",
+ "lateral structure phenotype",
+ "shape of external ear phenotype",
"Abnormality of the nervous system",
- "Disinhibition",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "material anatomical entity physiology phenotype",
- "decreased length of neck",
- "Micrognathia",
- "aplastic manual digit 1",
- "Atypical behavior",
- "nervous system physiology phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "Attention deficit hyperactivity disorder",
- "Abnormal erythroid lineage cell morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "multicellular organismal process",
- "decreased behavior",
- "bone of jaw phenotype",
- "biological_process",
- "limb phenotype",
- "absent reproductive structure in the female reproductive system",
- "behavior process phenotype",
- "oligodendrocyte development",
- "social behavior",
- "nervous system process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "neck",
+ "increased qualitatively biological_process",
+ "shape of continuant phenotype",
+ "ear morphology phenotype",
+ "Abnormality of the face",
+ "eyelid",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
"Abnormality of the orbital region",
- "decreased embryo development",
- "Abnormality of the neck",
- "arm phenotype",
- "bone of pectoral complex phenotype",
- "digit 1",
- "curvature anatomical entity",
- "mesoderm-derived structure",
- "absent endochondral bone in the forelimb",
- "digestive system element atresia",
- "flat nose tip",
- "appendicular skeleton phenotype",
- "tracheobronchial tree morphology phenotype",
- "absent limb bone",
- "aplasia or hypoplasia of mandible",
- "increased size of the non-material anatomical boundary",
- "absent endochondral element",
- "agenesis of anatomical entity",
- "bone of appendage girdle complex phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of digestive tract atresia",
- "limb bone morphology phenotype",
- "digestive system element",
- "external genitalia",
- "absent radius endochondral element",
- "forelimb skeleton phenotype",
- "absent forelimb endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "central nervous system myelination",
- "long bone phenotype",
- "size of eyeball of camera-type eye phenotype",
- "Abnormal nervous system physiology",
- "absent bone element",
- "increased width of anatomical structure",
- "nasal bridge phenotype",
- "Abnormal social behavior",
- "zeugopodial skeleton",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "absent forelimb long bone in the forelimb",
- "absent abdominal segment element",
- "skeleton of lower jaw phenotype",
- "Abnormal affect",
- "absent bone of free limb or fin",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Aplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "Aplasia/Hypoplasia involving bones of the skull",
- "absent limb endochondral element in the limb",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "flat anatomical entity",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "mouth morphology phenotype",
- "absent limb bone in the forelimb",
- "renal system",
- "absent mesoderm-derived structure in the multicellular organism",
+ "roof of mouth",
+ "Slanting of the palpebral fissure",
+ "Aplasia/Hypoplasia of the external ear",
+ "absent uterus",
+ "Abnormal eyelid morphology",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "ocular adnexa phenotype",
+ "metencephalon",
+ "face phenotype",
+ "Reduced attention regulation",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "absent organism subdivision in the head",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
+ "orbital region",
+ "non-connected functional system",
+ "palpebral fissure phenotype",
+ "orifice phenotype",
+ "eyelid morphology phenotype",
+ "male reproductive organ",
+ "multi organ part structure phenotype",
+ "Abnormality of the head",
+ "increased length of the anatomical line between pupils",
+ "face morphology phenotype",
+ "negative regulation of cellular process",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "absent kidney",
+ "decreased social inhibition",
+ "immaterial entity",
+ "negative regulation of cellular biosynthetic process",
+ "organ subunit",
+ "homeostatic process",
+ "attention behavior",
+ "metabolic process",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "negative regulation of biological process phenotype",
+ "closing of the subdivision of digestive tract",
+ "Abnormal cellular phenotype",
+ "regulation of cellular process phenotype",
+ "regulation of metabolic process phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "nose tip",
+ "zeugopod",
+ "absent material anatomical entity in the renal system",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "negative regulation of cellular process phenotype",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "pigmentation phenotype",
+ "autopodial extension",
+ "manual digit 1",
+ "decreased size of the ectoderm-derived structure",
+ "ear",
+ "regulation of cellular biosynthetic process phenotype",
+ "subdivision of digestive tract",
+ "digestive system",
+ "obsolete cell",
"anatomical entity morphology phenotype",
- "absent organ in the limb",
- "biological_process phenotype",
- "orifice atresia",
- "Craniofacial cleft",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "subdivision of organism along main body axis",
+ "dermal skeletal element",
+ "number of anatomical enitites of type organ part phenotype",
+ "external ear",
+ "structure with developmental contribution from neural crest phenotype",
+ "increased number of organ part",
+ "structure with developmental contribution from neural crest",
+ "Abnormal cerebral ventricle morphology",
+ "bone of craniocervical region",
+ "intromittent organ phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "hindbrain morphology phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "system",
+ "regulation of gene expression phenotype",
+ "subdivision of head phenotype",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Hypertelorism",
+ "Morphological central nervous system abnormality",
+ "Absent radius",
+ "Abnormal skin morphology",
+ "subdivision of vertebral column phenotype",
+ "Abnormality of the outer ear",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "Abnormal tracheal morphology",
+ "bodily fluid",
+ "multi-tissue structure",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "Abnormality of the digestive system",
+ "cerebrospinal fluid",
+ "organism substance",
+ "organ part phenotype",
+ "increased number of multicellular anatomical structure",
+ "fused sacrum",
+ "increased number of anatomical structure",
+ "ventricle of nervous system phenotype",
+ "transudate",
+ "cerebellum phenotype",
+ "brain ventricle morphology phenotype",
+ "absent anatomical entity in the reproductive system",
+ "subdivision of tube",
+ "respiratory airway",
+ "incomplete closing of the roof of mouth",
+ "brain ventricle/choroid plexus phenotype",
+ "digestive system phenotype",
+ "respiratory system",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digestive tract",
+ "camera-type eye morphology phenotype",
+ "pelvic region element phenotype",
+ "viscus",
+ "vertebral element",
+ "reproductive organ phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "Abnormality of the respiratory system",
+ "Abnormal respiratory system physiology",
+ "thoracic segment of trunk",
+ "compound organ",
+ "eye",
+ "axon ensheathment in central nervous system",
+ "Aplasia/Hypoplasia of the ear",
"Tracheoesophageal fistula",
- "female reproductive system morphology phenotype",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
+ "absent anatomical structure in the reproductive system",
+ "programmed DNA elimination",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal volitional state",
+ "ventricular system of brain",
"number of anatomical enitites of type organ component layer phenotype",
- "Hypermelanotic macule",
- "hindbrain",
+ "Abnormal respiratory system morphology",
+ "cervical region of vertebral column",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "external ear phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "visual system",
+ "lower respiratory tract",
+ "flat anatomical entity",
+ "alimentary part of gastrointestinal system phenotype",
+ "regulation of metabolic process",
+ "pectoral appendage skeleton",
+ "pes",
+ "absent trunk region element",
+ "intramembranous bone phenotype",
"skull phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "autopodial extension",
- "reproductive system phenotype",
- "absent forelimb bone",
- "endochondral element",
- "absent multicellular anatomical structure in the head",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "Microtia",
- "absent arm bone",
- "limb long bone phenotype",
- "forelimb zeugopod",
- "number of anatomical enitites of type endochondral bone phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "absent radius endochondral element in the forelimb",
- "absent mesoderm-derived structure in the forelimb",
- "facial bone",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
+ "female reproductive system phenotype",
+ "orifice",
+ "upper digestive tract",
+ "anatomical system",
+ "increased number of brain ventricle/choroid plexus",
+ "membrane bone",
"bone of pectoral complex morphology phenotype",
- "absent compound organ",
- "intramembranous bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "aplasia or hypoplasia of manual digit",
- "absent organ in the forelimb",
- "Abnormal social development",
- "absent bone element in the forelimb",
- "intramembranous bone",
- "absent bone of pectoral complex",
- "Abnormality of the female genitalia",
- "bone of pectoral complex",
- "bone of free limb or fin",
- "decreased qualitatively behavior",
- "forelimb zeugopod skeleton",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "Abnormal penis morphology",
- "forelimb",
- "absent limb endochondral element",
- "digit 1 or 5",
- "Intrauterine growth retardation",
- "aplasia or hypoplasia of radius bone",
- "myelination",
- "Abnormal metencephalon morphology",
- "number of anatomical enitites of type organ phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "trunk region element",
- "forelimb long bone phenotype",
- "Cognitive impairment",
- "absent radius bone",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
+ "tracheobronchial tree",
+ "abdominal segment of trunk",
+ "Global developmental delay",
+ "organ atresia",
+ "alimentary part of gastrointestinal system",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth",
+ "absent organ part",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "absent digit",
+ "Abnormal esophagus morphology",
+ "absent forelimb endochondral element",
+ "bone of appendage girdle complex phenotype",
+ "absent material anatomical entity in the limb",
+ "behavior process",
+ "limb bone phenotype",
+ "autopod region morphology phenotype",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "absent limb endochondral element",
+ "Micropenis",
+ "Abnormality of limbs",
+ "Abnormal affect",
+ "organ part",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "head bone phenotype",
+ "cavitated compound organ phenotype",
+ "Abnormal ocular adnexa morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "jaw region",
+ "renal system morphology phenotype",
+ "Abnormality of the female genitalia",
+ "mesoderm-derived structure phenotype",
+ "pelvic region of trunk",
+ "palpebral fissure",
+ "pectoral complex",
+ "head",
+ "disconnected anatomical group",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "internal genitalia phenotype",
+ "esophagus",
+ "sacral region of vertebral column",
+ "central nervous system development",
+ "hemolymphoid system",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "Abnormality of the kidney",
+ "orbital region phenotype",
+ "biological regulation",
+ "Abnormal penis morphology",
+ "anatomical collection phenotype",
+ "quality",
+ "aplasia or hypoplasia of external ear",
+ "decreased size of the sense organ",
+ "Abnormally increased volition",
+ "Abnormal renal morphology",
+ "radius endochondral element",
+ "dorsum",
+ "closing of the anatomical structure",
+ "cervical region",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "cervical vertebra endochondral element phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "decreased size of the organism subdivision",
+ "digit plus metapodial segment",
+ "external soft tissue zone",
+ "skeletal element phenotype",
+ "limb bone morphology phenotype",
+ "nervous system process",
+ "anatomical structure physiology phenotype",
+ "facial bone phenotype",
+ "bone element",
+ "aplasia or hypoplasia of cerebellum",
+ "anatomical structure",
+ "musculature of body",
+ "ear phenotype",
+ "decreased qualitatively biological_process",
+ "anatomical entity",
+ "main body axis",
+ "organism subdivision",
+ "absent endochondral element in the limb",
+ "decreased size of the anatomical structure",
+ "organ",
+ "vertebral element phenotype",
+ "vertebra",
"Abnormal forearm morphology",
- "vertebral column",
- "increased number of anatomical entity",
+ "proximo-distal subdivision of respiratory tract",
+ "brain ventricle/choroid plexus",
+ "Short attention span",
+ "system process",
+ "external male genitalia hypoplasia",
+ "Abnormality of globe size",
+ "Hypoplastic sacrum",
+ "Aplasia/Hypoplasia of facial bones",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "craniocervical region phenotype",
+ "abdominal segment bone",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "nervous system morphology phenotype",
+ "developmental process",
+ "cell phenotype",
+ "anatomical entity hypoplasia in face",
+ "opening of the anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "skeletal system morphology phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus",
+ "increased size of the immaterial anatomical entity",
+ "neck",
"absent anatomical structure",
- "arm bone",
- "ear",
- "dermatocranium",
- "subdivision of oviduct phenotype",
- "Abnormal palate morphology",
- "Abnormal erythrocyte morphology",
- "absent multicellular anatomical structure",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "number of anatomical enitites of type bone element phenotype",
+ "absent external ear",
+ "increased size of the ectoderm-derived structure",
+ "pelvic region element",
+ "material entity",
+ "negative regulation of biosynthetic process",
+ "long bone",
+ "ocular adnexa",
+ "female reproductive organ",
+ "Abnormality of head or neck",
+ "decreased biological_process",
+ "anatomical entity length phenotype",
+ "decreased length of material anatomical entity",
+ "delayed axon ensheathment in central nervous system",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "increased number of organ component layer",
+ "anatomical system physiology phenotype",
+ "nervous system",
+ "head phenotype",
"forelimb zeugopod bone",
- "brain ventricle",
- "pectoral appendage",
- "bone element",
+ "aplastic anatomical entity",
+ "anterior region of body",
+ "appendicular skeleton",
+ "Abnormal cerebellum morphology",
+ "Abnormality of multiple cell lineages in the bone marrow",
"absent anatomical entity in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "delayed growth",
- "embryo development phenotype",
- "decreased rate of behavior process",
- "vestibulo-auditory system",
- "absent material anatomical entity in the multicellular organism",
- "behavior process",
- "external ear hypoplasia",
- "segment of manus",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeletal system",
- "absent anatomical entity",
- "acropodium region",
- "sacral region",
- "arm",
- "skeleton of limb phenotype",
- "anatomical conduit",
- "closing of the organ part",
- "number of anatomical enitites of type trunk region element phenotype",
- "male reproductive organ phenotype",
- "decreased biological_process",
- "Absent radius",
- "female organism phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "absent anatomical structure in the ear",
- "manual digit 1 or 5",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "developmental process phenotype",
- "Abnormal myelination",
+ "abdominal segment element phenotype",
"Finger aplasia",
- "Abnormal gastrointestinal tract morphology",
- "sense organ phenotype",
+ "aplasia or hypoplasia of ear",
+ "independent continuant",
+ "anatomical line between pupils",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "increased size of the non-material anatomical boundary",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "musculature phenotype",
+ "aplasia or hypoplasia of skull",
+ "sense organ",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "regulation of biosynthetic process phenotype",
+ "anatomical system phenotype",
+ "central nervous system morphology phenotype",
+ "cervical vertebra endochondral element",
+ "Abnormal limb bone morphology",
+ "decreased length of neck",
+ "postcranial axial skeleton",
+ "multicellular organism",
+ "skeleton",
+ "negative regulation of gene expression",
+ "vertebra phenotype",
+ "upper jaw region",
+ "nervous system physiology phenotype",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "organ system subdivision",
+ "closing of the multicellular anatomical structure",
+ "trunk",
+ "Abnormality of the vertebral column",
+ "irregular bone phenotype",
+ "digit 1 or 5 phenotype",
+ "respiratory tube",
+ "respiratory tract",
+ "alimentary part of gastrointestinal system atresia",
+ "organ system subdivision phenotype",
+ "regulation of biological process phenotype",
+ "absent multicellular anatomical structure",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "vertebral column phenotype",
+ "autopodial extension phenotype",
+ "abdominal segment element",
+ "musculoskeletal system",
+ "Short neck",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "skeleton of limb",
+ "neck morphology phenotype",
+ "Abnormality of the urinary system",
+ "closing of the subdivision of tube",
+ "subdivision of skeletal system",
+ "entity",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "trunk or cervical vertebra phenotype",
+ "absent endochondral bone in the forelimb",
+ "bone of dorsum phenotype",
+ "trunk or cervical vertebra",
+ "Recurrent maladaptive behavior",
+ "ventricular system of central nervous system",
+ "neck bone",
+ "regulation of cellular process",
"lower limb segment phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "non-connected functional system",
- "secondary palate",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "shape anatomical entity",
- "forelimb skeleton",
- "trunk or cervical vertebra",
- "Low-set ears",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "absent bone of free limb or fin in the limb",
- "location of anatomical entity phenotype",
- "absent anatomical structure in the limb",
- "increased pigmentation in skin of body",
+ "absent forelimb long bone in the forelimb",
"Phenotypic abnormality",
- "Abnormal location of ears",
- "Abnormality of the outer ear",
- "forelimb zeugopod phenotype",
- "esophagus",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "forelimb endochondral element phenotype",
- "autopod region phenotype",
- "mandible morphology phenotype",
- "Abnormal respiratory system physiology",
- "musculature",
- "subdivision of organism along main body axis",
- "Talipes equinovarus",
- "craniocervical region phenotype",
- "pelvic region element phenotype",
- "Hypertelorism",
- "absent anatomical entity in the multicellular organism",
- "absent anatomical entity in the female reproductive system",
- "metabolic process",
- "shape of external ear phenotype",
- "autopodial extension phenotype",
- "decreased multicellular organismal process",
- "Abnormality of head or neck",
- "sensory system",
- "digit phenotype",
- "posterior region of body",
- "increased length of the non-material anatomical boundary",
- "anatomical structure physiology phenotype",
- "Decreased anatomical entity position",
- "Aplasia involving bones of the upper limbs",
- "hindlimb phenotype",
- "continuant",
- "Abnormality of the face",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "absent forelimb long bone",
+ "cervical vertebra",
+ "neck phenotype",
+ "increased number of anatomical entity",
"craniocervical region",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "head morphology phenotype",
- "immune system phenotype",
- "entire sense organ system",
- "organ subunit",
- "immaterial entity",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "bone of free limb or fin phenotype",
- "pelvic complex",
- "regulation of biosynthetic process",
+ "axon ensheathment phenotype",
+ "neck bone phenotype",
+ "Anal atresia",
+ "anatomical conduit",
"multicellular anatomical structure phenotype",
- "oviduct",
- "reproductive organ",
- "increased width of nasal bridge",
- "midface phenotype",
- "organ",
- "dermatocranium phenotype",
- "digit 1 or 5 phenotype",
- "system",
- "programmed DNA elimination",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "Abnormally increased volition",
- "anatomical entity morphology in the pectoral complex phenotype",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "Abnormal morphology of female internal genitalia",
- "quality",
- "leg",
- "organ system subdivision phenotype",
- "homeostatic process",
- "manual digit phenotype",
- "mouth",
- "Abnormality of the urinary system",
- "face phenotype",
+ "reproductive system phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "incomplete closing of the anatomical entity",
+ "nose tip phenotype",
+ "endochondral element phenotype",
+ "Abnormality of the neck",
+ "decreased behavior",
+ "Abnormal reproductive system morphology",
+ "delayed ensheathment of neurons",
+ "Abdominal symptom",
"dermal bone phenotype",
- "vertebra",
- "cerebrospinal fluid",
- "specifically dependent continuant",
- "digitopodium region",
- "absent bone element in the limb",
- "trachea",
- "anatomical system",
- "Positional foot deformity",
- "Wide nasal bridge",
- "Bilateral talipes equinovarus",
- "social inhibition",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased qualitatively biological_process",
- "pes",
- "absent organ",
- "process",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "arm bone phenotype",
- "Abnormal morphology of the radius",
- "cell differentiation",
- "Decreased external ear position",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "paired limb/fin phenotype",
- "dermal skeleton phenotype",
- "paired limb/fin segment phenotype",
- "cervical vertebra",
- "compound organ",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "anatomical system phenotype",
- "Eukaryota",
- "brain ventricle morphology phenotype",
- "skeletal system morphology phenotype",
- "lower limb segment",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "head bone phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal ocular adnexa morphology",
+ "phenotype",
+ "brain",
+ "glial cell development",
+ "anatomical space",
+ "cognitive behavior",
+ "decreased size of the multicellular anatomical structure",
+ "increased biological_process in skin of body",
+ "digit 1 or 5",
+ "bone of jaw",
+ "absent anatomical entity in the renal system",
+ "incomplete closing of the material anatomical entity",
+ "decreased length of multicellular anatomical structure",
+ "Chromosome breakage",
+ "paired limb/fin",
+ "Delayed myelination",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "bone of jaw phenotype",
+ "Abnormality of skin pigmentation",
+ "size of anatomical entity phenotype",
+ "Abnormal brain morphology",
+ "skeleton of lower jaw",
+ "bone of free limb or fin phenotype",
+ "Attention deficit hyperactivity disorder",
+ "snout morphology phenotype",
+ "anatomical entity phenotype",
+ "mandible phenotype",
+ "axial skeletal system",
+ "Growth abnormality",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "organism",
+ "secondary palate",
+ "vertebral column",
+ "thoracic cavity element",
+ "Abnormal nasal morphology",
+ "absent autopodial extension",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nasal bridge",
+ "decreased length of organism subdivision",
+ "bone of lower jaw",
+ "simple eye",
+ "cervical vertebra phenotype",
+ "sensory system",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "decreased length of anatomical structure",
+ "agenesis of anatomical entity",
+ "All",
+ "nervous system phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "skeletal system",
"Abnormality of the ear",
- "Talipes",
- "decreased size of the anatomical structure",
- "location of ear phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "cranial skeletal system",
- "Microphthalmia",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Aplasia involving forearm bones",
- "organ part atresia",
- "Abnormality of the digestive system",
- "closing of the thoracic segment organ",
- "anatomical entity atresia",
- "myeloid cell",
- "skeletal system phenotype",
- "forelimb morphology phenotype",
- "Aplasia/Hypoplasia of the ear",
- "head phenotype",
- "anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "absent material anatomical entity",
+ "endochondral bone phenotype",
+ "Abnormal social development",
"cognition",
- "sensation behavior",
- "closing of the subdivision of tube",
- "Abnormal oral cavity morphology",
- "limb skeleton subdivision",
- "Abnormality of metabolism/homeostasis",
- "dentary",
+ "uterus phenotype",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "esophagus morphology phenotype",
"subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "midface",
- "Delayed myelination",
- "Abnormality of limb bone",
- "external ear",
- "Absent forearm bone",
- "lower jaw region",
- "pes phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "All",
- "tube",
- "subdivision of tube phenotype",
- "cervical vertebra phenotype",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "primary subdivision of skull phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "appendage phenotype",
- "growth phenotype",
- "absent multicellular anatomical structure in the limb",
- "Abnormal ear morphology",
- "facial bone hypoplasia",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "skeletal element phenotype",
- "Aplasia/Hypoplasia of the mandible",
- "zeugopod",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "mandible",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "limb segment",
- "female reproductive organ",
- "musculoskeletal system",
- "pelvic appendage",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "hindlimb morphology phenotype",
- "regulation of macromolecule metabolic process",
- "absent endochondral element in the forelimb",
- "organ atresia",
- "absent mesoderm-derived structure in the limb",
- "Renal agenesis",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "absent trunk region element in the multicellular organism",
- "thoracic cavity element atresia",
- "forelimb endochondral element",
"craniofacial/craniocervical phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "organism subdivision",
- "absent anatomical entity in the reproductive system",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "behavior",
- "leg phenotype",
- "male reproductive system",
- "organism subdivision phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "nose tip morphology phenotype",
- "anatomical entity phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "nose tip phenotype",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "forelimb phenotype",
- "absent bone of appendage girdle complex",
- "internal female genitalia morphology phenotype",
- "external ear morphology phenotype",
- "oxygen accumulating cell",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "absent long bone in the forelimb",
- "tube phenotype",
- "primary subdivision of skull",
- "subdivision of organism along main body axis phenotype",
+ "absent anatomical structure in the multicellular organism",
"body proper",
- "musculature of body phenotype",
- "nasal bridge",
- "Short attention span",
- "Growth abnormality",
- "bone of jaw",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "long bone morphology phenotype",
- "postcranial axial skeleton",
- "anatomical conduit phenotype",
- "digestive tract",
- "skeleton of limb",
- "ocular adnexa phenotype",
- "Reduced social responsiveness",
- "Bone marrow hypocellularity",
- "absent multicellular anatomical structure in the forelimb",
- "Anemia",
- "number of anatomical enitites of type anatomical structure phenotype",
- "absent forelimb endochondral element in the forelimb",
- "axial skeletal system",
- "Abnormality of the mouth",
- "facial skeleton morphology phenotype",
- "Abnormal pinna morphology",
- "organ part phenotype",
- "dermal skeleton",
- "cerebellum morphology phenotype",
- "Abnormality of the kidney",
- "bone of lower jaw",
- "phenotype",
- "dermal skeletal element",
- "face morphology phenotype",
- "regional part of nervous system phenotype",
- "subdivision of trunk",
- "membrane bone",
- "ear morphology phenotype",
- "organ component layer",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "intromittent organ",
- "anus morphology phenotype",
- "bone of craniocervical region",
- "Cleft palate",
- "absent bone of appendage girdle complex in the limb",
- "Hyperactivity",
- "subdivision of digestive tract phenotype",
- "radius endochondral element",
- "anatomical collection",
- "limb bone",
- "camera-type eye phenotype",
- "absent forelimb bone in the forelimb",
- "ear phenotype",
- "mouth phenotype",
- "autopod region morphology phenotype",
- "bone element hypoplasia in face",
- "embryo development",
- "increased width of anatomical entity",
- "location of external ear phenotype",
- "multicellular organism",
- "dermal skeletal element phenotype",
- "bone of lower jaw phenotype",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
+ "dorsal region element",
+ "taxon specific phenotype",
+ "skeletal element",
+ "Abnormality of the immune system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "Abnormal ear morphology",
+ "Abnormal finger morphology",
"absent organism subdivision in the multicellular organism",
- "Abnormal foot morphology",
- "skeleton of lower jaw",
- "anatomical structure development",
- "bodily fluid phenotype",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "cerebrospinal fluid morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "absent bone of pectoral complex in the limb",
- "digestive system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "tracheobronchial tree",
- "number of anatomical enitites of type skeletal element phenotype",
- "decreased size of the material anatomical entity",
- "absent multicellular anatomical structure in the ear",
- "jaw skeleton morphology phenotype",
- "negative regulation of cellular process",
- "Abnormal oral morphology",
- "vertebra phenotype",
- "aplastic anatomical entity",
- "bone of dorsum",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "Abnormal jaw morphology",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "organism substance phenotype",
- "absent long bone",
- "irregular bone phenotype",
- "anatomical entity hypoplasia",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "absent limb long bone",
- "dentary phenotype",
- "neck bone",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "decreased social inhibition",
- "hindbrain morphology phenotype",
- "cranial skeletal system phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "external soft tissue zone",
- "digestive system element phenotype",
- "pes morphology phenotype",
- "zeugopod phenotype",
- "postcranial axial skeleton phenotype",
- "digestive system morphology phenotype",
- "nervous system",
- "jaw region",
- "Abnormal neck morphology",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Aplasia/Hypoplasia of facial bones",
- "mandible phenotype",
- "organ phenotype",
- "absent subdivision of tube in the female reproductive system",
- "skeleton",
- "internal genitalia phenotype",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "aplasia or hypoplasia of skeleton",
"appendicular skeleton morphology phenotype",
- "radius bone",
- "absent abdominal segment element in the renal system",
- "subdivision of skeleton phenotype",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "facial bone phenotype",
- "Abnormality of chromosome stability",
"occurrent",
- "anatomical collection phenotype",
- "respiratory tract",
- "skeleton phenotype",
- "absent bone of pectoral complex in the forelimb",
- "paired limb/fin skeleton",
+ "multicellular organismal process phenotype",
+ "increased number of material anatomical entity",
+ "absent anatomical structure in the limb",
+ "decreased qualitatively multicellular organismal process",
+ "absent abdominal segment element",
+ "Unilateral renal agenesis",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "digitopodium region",
+ "thoracic segment organ atresia",
+ "Aplasia/Hypoplasia of fingers",
+ "mouth morphology phenotype",
+ "genitourinary system phenotype",
+ "Abnormality of mental function",
+ "Depressed nasal tip",
+ "decreased multicellular organismal process",
+ "upper limb segment phenotype",
+ "Cognitive impairment",
+ "Webbed neck",
+ "absent material anatomical entity in the multicellular organism",
+ "Talipes",
+ "subdivision of vertebral column",
"absent manual digit",
- "external nose phenotype",
+ "social inhibition",
+ "dorsal region element phenotype",
+ "material anatomical entity physiology phenotype",
"Abnormal digit morphology",
- "negative regulation of metabolic process phenotype",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "autopodial skeleton",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "Abnormal sacrum morphology",
+ "material anatomical entity phenotype",
+ "Reduced social responsiveness",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormality of the nose",
"absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "main body axis",
- "Abnormal cerebrospinal fluid morphology",
- "external nose morphology phenotype",
- "aplasia or hypoplasia of fused sacrum",
- "Absent thumb",
- "anatomical entity morphology in the manus phenotype",
- "digestive system physiology phenotype",
- "male reproductive organ",
- "manual digit 1 morphology phenotype",
- "Abnormal nasal bridge morphology",
- "immaterial anatomical entity",
- "visual system phenotype",
- "multicellular organism phenotype",
- "eyeball of camera-type eye phenotype",
- "Macule",
- "eyeball of camera-type eye",
- "eye phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "material entity",
- "material anatomical entity atresia",
- "vision/eye phenotype",
- "bone marrow cell",
- "simple eye phenotype",
- "blood cell phenotype",
- "orbital region phenotype",
- "absent anatomical entity in the renal system",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "Aplasia/hypoplasia involving forearm bones",
- "Aplasia/Hypoplasia of the sacrum",
- "decreased size of the ectoderm-derived structure",
- "cerebellum hypoplasia",
- "camera-type eye",
- "Morphological central nervous system abnormality",
- "visual system",
- "ectoderm-derived structure atresia",
- "nose morphology phenotype",
- "decreased size of the sense organ",
- "size of anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent external ear in the head",
- "abdominal segment element",
+ "absent multicellular anatomical structure in the head",
+ "Abnormal neck morphology",
+ "protein-containing material entity",
+ "segment of manus",
+ "sense organ phenotype",
+ "anatomical conduit phenotype",
+ "axial skeleton plus cranial skeleton",
+ "neurogenesis",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "cerebellum morphology phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "Abnormality of the hand",
+ "Anemia",
+ "absent multicellular anatomical structure in the forelimb",
+ "decreased size of the anatomical entity",
"Abnormal cellular physiology",
- "Aplasia/Hypoplasia of the external ear",
- "regulation of metabolic process phenotype",
- "anatomical structure",
- "absent anatomical structure in the head",
- "number of anatomical enitites of type lateral structure phenotype",
- "Anotia",
- "aplasia or hypoplasia of skull",
- "increased size of the anatomical line",
- "absent anatomical entity in the ear",
- "absent subdivision of head in the head",
- "trunk bone",
- "subdivision of organism along appendicular axis phenotype",
- "absent anatomical entity in the head",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "absent lateral structure in the head",
- "Neurodevelopmental abnormality",
- "anatomical wall phenotype",
- "absent external ear",
- "increased biological_process",
- "absent subdivision of head",
- "absent organism subdivision in the head",
- "aplasia or hypoplasia of ear",
- "bony pelvis",
- "axial skeleton plus cranial skeleton phenotype",
- "vertebral column phenotype",
- "trunk region element phenotype",
- "fused sacrum",
- "pelvic region element",
- "abdominal segment bone",
- "sacral region of vertebral column",
- "abdominal segment of trunk",
- "sacral region of vertebral column phenotype",
- "aplasia or hypoplasia of vertebral column",
- "fused sacrum hypoplasia",
- "bone of dorsum phenotype",
- "viscus",
- "dorsal region element phenotype",
+ "absent anatomical entity in the skeletal system",
+ "forelimb morphology phenotype",
"absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "dorsum",
- "trunk",
+ "digit",
+ "decreased qualitatively multicellular organism development",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "paired limb/fin phenotype",
+ "Abnormal internal genitalia",
+ "autopod region phenotype",
+ "brain morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "abdomen element",
+ "homeostatic process phenotype",
+ "behavior",
+ "Renal agenesis",
+ "Cleft palate",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "limb endochondral element",
+ "organ component layer",
+ "penis hypoplasia",
+ "autopodial skeleton",
+ "digit 1 phenotype",
+ "multi organ part structure",
+ "Abnormal facial skeleton morphology",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
+ "camera-type eye",
"fused sacrum phenotype",
- "Hypoplastic sacrum",
- "abdominal segment element phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "subdivision of trunk phenotype",
- "Aplasia/Hypoplasia involving the vertebral column",
- "limb bone phenotype",
- "thoracic segment organ phenotype",
- "dorsal region element",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Abnormality of the vertebral column",
- "trunk phenotype",
- "midface morphology phenotype",
- "absent anatomical structure in the female reproductive system",
- "reproductive structure",
- "uterus",
+ "trunk bone",
+ "manual digit 1 plus metapodial segment",
+ "lateral structure",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormality of the cervical spine",
"increased pigmentation",
- "Abnormal cell morphology",
- "internal genitalia",
- "bone of craniocervical region phenotype",
- "autopod region",
- "aplasia or hypoplasia of uterus",
- "Chromosome breakage",
- "increased number of anatomical structure in the cerebrospinal fluid",
+ "Abnormal skeletal morphology",
+ "external ear hypoplasia",
+ "axon ensheathment in central nervous system phenotype",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "manual digit",
+ "arm",
"increased number of brain ventricle in the cerebrospinal fluid",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "absent uterus in the female reproductive system",
- "Abnormal internal genitalia",
- "reproductive organ phenotype",
- "Aplasia/hypoplasia of the uterus",
- "manus",
- "absent reproductive structure",
- "increased biological_process in skin of body",
- "genitourinary system phenotype",
- "increased number of brain ventricle/choroid plexus",
- "facial skeleton",
- "Aplasia of the uterus",
- "neurogenesis",
- "regulation of cellular biosynthetic process phenotype",
- "cerebellum phenotype",
- "oviduct phenotype",
- "female reproductive system",
- "absent multicellular anatomical structure in the female reproductive system",
- "number of anatomical enitites of type organ part phenotype",
- "simple eye",
- "number of anatomical enitites of type reproductive structure phenotype",
+ "anatomical wall",
+ "absent bone of free limb or fin",
+ "bone of appendage girdle complex",
+ "regulation of biological process",
+ "decreased multicellular organism development",
+ "Abnormality of the anus",
+ "digit 1 plus metapodial segment",
+ "cerebrospinal fluid morphology phenotype",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "paired limb/fin skeleton",
+ "esophagus phenotype",
+ "limb phenotype",
+ "skeleton phenotype",
+ "paired limb/fin segment",
+ "erythrocyte morphology phenotype",
+ "Abnormal bone marrow cell morphology",
+ "acropodium region",
+ "absent anatomical structure in the forelimb",
+ "multi-limb segment region",
+ "Abnormal social behavior",
+ "ventricle of nervous system",
+ "anatomical point",
+ "subdivision of digestive tract phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "cell development",
+ "manus phenotype",
+ "continuant",
+ "hindlimb",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent organism subdivision",
+ "digit 1",
+ "Hyperactivity",
+ "absent organ in the multicellular organism",
+ "mesoderm-derived structure",
+ "Aplasia/Hypoplasia of the thumb",
+ "cell",
+ "Abnormality of the mouth",
+ "limb",
+ "limb long bone morphology phenotype",
+ "absent subdivision of oviduct in the female reproductive system",
+ "increased size of the material anatomical entity",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "endochondral bone",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "bone of dorsum",
+ "sensation behavior",
+ "digit morphology phenotype",
+ "Aplasia/Hypoplasia involving the vertebral column",
+ "location of anatomical entity phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "limb endochondral element phenotype",
+ "ensheathment of neurons",
+ "increased length of the non-material anatomical boundary",
+ "fused sacrum hypoplasia",
+ "forelimb zeugopod morphology phenotype",
+ "trunk bone phenotype",
"penis",
- "absent digit",
- "female reproductive organ morphology phenotype",
- "ventricle of nervous system phenotype",
- "subdivision of oviduct",
- "increased number of organ component layer",
- "absent organ part",
- "number of anatomical enitites of type subdivision of tube phenotype",
- "internal female genitalia",
- "absent anatomical structure in the reproductive system",
- "jaw skeleton",
- "penis phenotype",
- "Abnormality of the genitourinary system",
- "Abnormality of the uterus",
+ "increased size of the anatomical line",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Abnormality of globe location",
"shape nose tip",
- "absent multicellular anatomical structure in the reproductive system",
- "reproductive structure phenotype",
- "paired limb/fin",
- "Hypoplastic male external genitalia",
- "regulation of gene expression phenotype",
- "absent organ part in the female reproductive system",
- "absent subdivision of oviduct",
- "system process",
- "brain ventricle/choroid plexus phenotype",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
+ "Abnormal nasal bridge morphology",
+ "erythroid lineage cell",
"increased length of the anatomical entity",
- "absent reproductive structure in the reproductive system",
- "absent mesoderm-derived structure",
- "absent subdivision of tube",
- "genitourinary system",
- "appendage girdle complex",
- "uterus phenotype",
- "Global developmental delay",
- "absent subdivision of oviduct in the female reproductive system",
- "pelvic region of trunk",
- "absent material anatomical entity in the female reproductive system",
- "Reduced attention regulation",
- "reproductive system morphology phenotype",
- "manual digit",
- "vertebral element phenotype",
- "increased width of ectoderm-derived structure",
- "Abnormality of the genital system",
- "cervical region",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "pectoral complex",
- "cervical region of vertebral column",
- "decreased qualitatively developmental process",
- "Aplasia/Hypoplasia of the cerebellum",
- "Abnormal tracheal morphology",
- "neck morphology phenotype",
- "decreased length of anatomical entity",
- "subdivision of head phenotype",
- "Hydrocephalus",
- "decreased length of multicellular anatomical structure",
- "Depressed nasal tip",
- "aplasia or hypoplasia of cerebellum",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "neck bone phenotype",
- "Abnormality of the cervical spine",
- "absent forelimb bone in the limb",
- "decreased length of anatomical structure",
- "decreased length of organism subdivision",
- "Short neck",
- "Neurodevelopmental delay",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "obsolete cell",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "negative regulation of macromolecule metabolic process",
- "regulation of cellular biosynthetic process",
- "behavior phenotype",
- "Abnormal hindbrain morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "programmed DNA elimination by chromosome breakage",
- "segmental subdivision of nervous system",
- "Abnormal eyelid morphology",
- "aplasia or hypoplasia of external ear",
- "anatomical point",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "biological regulation",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "negative regulation of gene expression",
- "cell phenotype",
- "pectoral appendage phenotype",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "male organism",
- "Abnormal cellular phenotype",
- "palpebral fissure phenotype",
- "upper urinary tract phenotype",
- "cognitive behavior",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of metabolic process",
- "brain",
- "cell",
- "absent endochondral element in the limb",
- "Abnormal esophagus morphology",
- "anatomical point phenotype",
- "thoracic cavity element phenotype",
- "oral cavity phenotype",
- "increased number of ectoderm-derived structure",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "esophagus phenotype",
- "Esophageal atresia",
+ "Cafe-au-lait spot",
+ "anatomical line",
+ "decreased qualitatively anatomical structure development",
"immaterial anatomical entity phenotype",
- "subdivision of vertebral column phenotype",
- "trunk region element atresia",
- "axon ensheathment phenotype",
- "irregular bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "esophagus atresia",
- "closing of the trunk region element",
+ "non-material anatomical boundary phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the eye",
+ "increased length of the immaterial anatomical entity",
+ "subdivision of oviduct phenotype",
+ "ectoderm-derived structure phenotype",
+ "regulation of biosynthetic process",
+ "immaterial anatomical entity",
+ "Abnormal digestive system morphology",
+ "Abnormal CNS myelination",
+ "increased length of the anatomical line",
"viscus phenotype",
- "absent lateral structure",
- "esophagus morphology phenotype",
- "olfactory organ",
- "cellular process phenotype",
- "number of anatomical enitites of type kidney phenotype",
- "absent trunk region element",
- "closing of the organ",
- "alimentary part of gastrointestinal system atresia",
- "absent skeletal element",
- "thoracic segment organ atresia",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
+ "regional part of nervous system",
+ "Abnormal midface morphology",
+ "location of eyeball of camera-type eye phenotype",
+ "anatomical line phenotype",
+ "organism subdivision phenotype",
+ "Hypoplastic facial bones",
"respiratory system phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "Recurrent maladaptive behavior",
- "absent material anatomical entity in the ear",
- "closing of the anatomical system",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of tube atresia",
- "closing of the multicellular anatomical structure",
"absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "alimentary part of gastrointestinal system phenotype",
- "alimentary part of gastrointestinal system",
- "Abnormality of digestive system physiology",
- "Abdominal symptom",
- "Feeding difficulties",
- "central nervous system phenotype",
- "multi-tissue structure",
- "central nervous system",
- "Cerebellar hypoplasia",
- "lateral structure",
- "erythrocyte morphology phenotype",
- "metencephalon",
- "organism",
- "structure with developmental contribution from neural crest",
- "primary subdivision of cranial skeletal system",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "respiratory system morphology phenotype",
- "segment of autopod",
- "decreased size of the organism subdivision",
- "Metazoa",
- "segmental subdivision of hindbrain phenotype",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "Abnormal nervous system morphology",
+ "delayed biological_process",
+ "multicellular organism morphology phenotype",
+ "absent anatomical structure in the head",
+ "axon ensheathment",
+ "delayed myelination",
+ "glial cell differentiation",
+ "myelination",
+ "absent subdivision of tube in the female reproductive system",
+ "myelination phenotype",
"root",
- "digit",
- "nose phenotype",
- "axial skeleton plus cranial skeleton",
- "external nose",
- "upper digestive tract",
+ "delayed central nervous system myelination",
+ "multicellular organism development",
+ "Hypoplastic male external genitalia",
+ "ensheathment of neurons phenotype",
+ "appendage",
+ "central nervous system myelination phenotype",
+ "skeletal system phenotype",
+ "Abnormal mandible morphology",
+ "anatomical structure development",
+ "oligodendrocyte development",
+ "absent anatomical entity",
+ "decreased size of the eyeball of camera-type eye",
+ "central nervous system myelination",
+ "bone of lower jaw phenotype",
+ "Abnormal myelination",
+ "cellular process",
+ "long bone morphology phenotype",
+ "delayed cellular process",
+ "dermal skeleton",
+ "phenotypic effect",
+ "female reproductive system",
+ "cellular process phenotype",
+ "limb segment",
"external genitalia phenotype",
- "Opisthokonta",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "forelimb long bone",
- "female organism",
- "brain morphology phenotype",
- "Abnormal external nose morphology",
+ "cellular developmental process",
+ "limb long bone phenotype",
+ "facial skeleton morphology phenotype",
+ "nervous system development",
+ "anatomical structure phenotype",
+ "decreased anatomical structure development",
+ "Talipes equinovarus",
+ "leg",
+ "Abnormality of the lower limb",
+ "Hypermelanotic macule",
+ "lower limb segment",
+ "Abnormal palate morphology",
+ "Abnormality of digestive system physiology",
+ "Abnormal cell morphology",
+ "leg phenotype",
+ "subdivision of skeletal system phenotype",
+ "incomplete closing of the secondary palate",
+ "integument",
+ "pelvic appendage",
+ "pes morphology phenotype",
+ "internal genitalia",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the uterus",
+ "Hyperpigmentation of the skin",
+ "Positional foot deformity",
+ "absent anatomical entity in the multicellular organism",
+ "Microphthalmia",
+ "pelvic complex",
+ "posterior region of body",
+ "hindlimb morphology phenotype",
+ "Decreased external ear position",
+ "Decreased anatomical entity position",
"cellular organisms",
- "hindbrain phenotype",
- "Webbed neck",
- "eye",
- "Abnormal brain morphology",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "Abnormal nasal morphology",
- "nose",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "pigmentation",
- "increased size of the anatomical structure",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
+ "regulation of cellular metabolic process",
+ "arm phenotype",
+ "location of ear phenotype",
"skeleton of pectoral complex",
- "respiratory airway",
- "increased size of the anatomical entity",
- "absent anatomical structure in the skeletal system",
- "increased width of material anatomical entity",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "nasal bridge morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "pigmentation phenotype",
- "delayed axon ensheathment",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "Renal hypoplasia",
- "snout",
- "snout morphology phenotype",
- "internal female genitalia phenotype",
- "anatomical line",
- "Abnormal limb bone morphology",
- "olfactory organ phenotype",
- "incomplete closing of the anatomical entity",
- "secondary palate morphology phenotype",
- "kidney",
- "hindlimb",
- "incomplete closing of the anatomical structure",
+ "specifically dependent continuant",
+ "Abnormal location of ears",
+ "Low-set ears",
+ "irregular bone",
+ "Abnormal jaw morphology",
+ "digestive system morphology phenotype",
+ "absent bone of pectoral complex in the limb",
+ "intramembranous bone",
+ "Abnormality of the genital system",
+ "mouth",
+ "Aplasia/Hypoplasia of the mandible",
+ "primary subdivision of cranial skeletal system",
+ "absent forelimb endochondral element in the limb",
+ "embryo development rate phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "absent radius endochondral element",
+ "aplasia or hypoplasia of mandible",
+ "facial bone hypoplasia",
+ "Abnormality of the genitourinary system",
+ "bone of craniocervical region phenotype",
+ "digestive system element phenotype",
+ "Abnormal eye morphology",
+ "head bone morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "neural crest-derived structure phenotype",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "absent subdivision of head in the head",
+ "dentary phenotype",
+ "metencephalon morphology phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "mandible",
+ "increased number of brain ventricle",
+ "facial bone",
+ "immune system",
+ "facial skeleton",
+ "absent abdomen element in the renal system",
+ "jaw skeleton",
+ "dermal bone",
+ "absent radius bone",
+ "cranial skeletal system",
+ "Wide nasal bridge",
+ "postcranial axial skeletal system",
+ "absent multicellular anatomical structure in the ear",
+ "primary subdivision of skull",
+ "thoracic segment organ phenotype",
+ "Micrognathia",
+ "bone element hypoplasia in face",
"flattened anatomical entity",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "oral cavity",
"neural crest-derived structure",
- "incomplete closing of the secondary palate",
- "appendicular skeleton",
- "skeletal system",
- "organ component layer phenotype",
- "roof of mouth",
- "biological regulation phenotype",
- "digestive system",
- "anatomical space phenotype",
- "delayed biological_process",
- "anatomical space",
- "incomplete closing of the multi-tissue structure",
- "incomplete closing of the neural crest-derived structure",
- "anatomical cavity",
- "manual digitopodium region",
- "incomplete closing of the roof of mouth",
+ "dermal skeletal element phenotype",
+ "nasal bridge morphology phenotype",
+ "absent kidney in the renal system",
+ "subdivision of tube phenotype",
+ "Abnormality of the uterus",
+ "membrane bone phenotype",
+ "Abnormal oral morphology",
+ "absent arm bone in the forelimb",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
"Delayed CNS myelination",
- "neck phenotype",
- "opening of the anatomical entity",
- "incomplete closing of the ectoderm-derived structure",
- "Micropenis",
- "penis hypoplasia",
- "eyelid morphology phenotype",
- "External genital hypoplasia",
- "Abnormality of the male genitalia",
- "Hypoplasia of penis",
- "Abnormal respiratory system morphology",
- "compound organ phenotype",
- "respiratory tube",
- "increased number of brain ventricle",
- "lower respiratory tract",
- "proximo-distal subdivision of respiratory tract",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "Abnormality of the respiratory system",
- "endoderm-derived structure",
- "proximo-distal subdivision of respiratory tract phenotype",
+ "oral cavity",
+ "organ component layer phenotype",
+ "behavior process phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "dentary",
+ "lower jaw region",
+ "Abnormal metencephalon morphology",
+ "absent skeletal element",
+ "Aplasia involving bones of the extremities",
+ "Aplasia involving forearm bones",
+ "absent forelimb bone in the forelimb",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "zeugopodial skeleton",
+ "forelimb long bone",
+ "arm bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "limb long bone",
+ "mandible hypoplasia",
+ "Aplasia involving bones of the upper limbs",
+ "shape anatomical entity",
+ "absent forelimb zeugopod bone in the forelimb",
+ "forelimb endochondral element",
+ "increased width of material anatomical entity",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "entire sense organ system",
+ "decreased rate of behavior process",
+ "absent bone of pectoral complex",
+ "absent subdivision of oviduct",
+ "regulation of cellular biosynthetic process",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "delayed axon ensheathment",
+ "number of anatomical enitites of type organ phenotype",
+ "closing of the organ part",
+ "absent forelimb endochondral element in the forelimb",
+ "closing of the thoracic segment organ",
+ "absent endochondral bone in the limb",
+ "autopod region",
+ "absent anatomical structure in the ear",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
"tissue",
- "absent organ in the renal system",
- "Abnormality of blood and blood-forming tissues",
- "Abnormality of the immune system",
- "closing of the anatomical conduit",
- "immune system",
- "bone cell",
- "hemolymphoid system",
- "regulation of cellular process",
- "hematopoietic system",
- "increased number of multicellular anatomical structure",
- "increased number of organ component layer in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "brain ventricle/choroid plexus",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "transudate",
- "increased number of material anatomical entity",
- "organ system subdivision",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "upper limb segment",
- "increased number of anatomical structure",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "brain ventricle phenotype",
- "erythroid lineage cell morphology phenotype",
- "cerebrospinal fluid phenotype",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "pelvic appendage phenotype",
- "absent radius bone in the forelimb",
- "bodily fluid",
- "metencephalon morphology phenotype",
- "increased number of organ part",
- "organ part",
- "external soft tissue zone phenotype",
- "Abnormal nasal tip morphology",
- "nose tip",
- "non-material anatomical boundary phenotype",
- "increased length of the anatomical line",
- "increased length of the immaterial anatomical entity",
- "ocular adnexa",
- "anatomical line between pupils",
- "location of eyeball of camera-type eye phenotype",
- "non-material anatomical boundary",
- "negative regulation of biological process phenotype",
- "anatomical line phenotype",
- "Abnormality of globe location",
- "increased size of the immaterial anatomical entity",
- "regulation of cellular metabolic process",
- "external male genitalia hypoplasia",
- "blood cell",
+ "absent anatomical structure in the skeletal system",
+ "trunk region element atresia",
+ "absent bone of free limb or fin in the forelimb",
+ "radius bone phenotype",
+ "forelimb long bone phenotype",
+ "number of anatomical enitites of type bone element phenotype",
+ "aplasia or hypoplasia of fused sacrum",
+ "absent limb long bone in the forelimb",
+ "absent forelimb bone in the limb",
+ "Abnormal morphology of the radius",
+ "absent bone element",
+ "absent forelimb bone",
+ "absent endochondral element in the forelimb",
+ "decreased size of the organ",
+ "absent organ",
+ "absent bone of appendage girdle complex in the limb",
+ "hindbrain",
+ "decreased size of the material anatomical entity",
+ "Absent forearm bone",
+ "oviduct",
+ "forelimb bone phenotype",
+ "absent limb bone",
+ "Aplasia/Hypoplasia of the radius",
+ "absent organ in the limb",
+ "behavior phenotype",
+ "segmental subdivision of hindbrain",
+ "absent endochondral element",
+ "absent organ in the forelimb",
+ "arm bone phenotype",
+ "Abnormal hindbrain morphology",
+ "delayed growth",
+ "negative regulation of macromolecule metabolic process",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "thoracic cavity element atresia",
+ "skin of body",
"absent endochondral bone",
- "erythrocyte",
+ "bone of pectoral complex phenotype",
+ "absent radius bone in the forelimb",
+ "Disinhibition",
+ "Abnormal forearm bone morphology",
+ "absent long bone",
+ "absent bone of pectoral complex in the forelimb",
+ "digestive system element",
+ "Orofacial cleft",
+ "absent arm bone",
+ "reproductive organ",
+ "multi-limb segment region phenotype",
+ "olfactory organ phenotype",
+ "absent bone element in the limb",
+ "absent material anatomical entity in the ear",
+ "Aplasia/hypoplasia involving forearm bones",
+ "long bone phenotype",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "absent forelimb zeugopod bone",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "Growth delay",
+ "radius bone",
+ "growth phenotype",
+ "embryo development phenotype",
+ "Abnormal tracheobronchial morphology",
+ "embryo development",
+ "decreased qualitatively developmental process",
+ "Intrauterine growth retardation",
+ "multicellular organism development phenotype",
+ "developmental process phenotype",
+ "anatomical structure development phenotype",
+ "decreased embryo development",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "uterus",
+ "size of eyeball of camera-type eye phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "absent uterus in the female reproductive system",
+ "absent material anatomical entity in the head",
+ "absent lateral structure",
+ "abdominal segment bone phenotype",
+ "increased size of the anatomical entity",
+ "absent lateral structure in the head",
+ "limb skeleton subdivision",
+ "absent anatomical entity in the ear",
+ "Anotia",
+ "aplasia or hypoplasia of manual digit 1",
+ "absent subdivision of head",
+ "male reproductive system",
+ "absent anatomical entity in the head",
+ "incomplete closing of the multi-tissue structure",
+ "female reproductive system morphology phenotype",
+ "internal female genitalia",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "closing of the material anatomical entity",
+ "upper limb segment",
+ "biological_process phenotype",
+ "biological_process",
+ "bone marrow cell",
+ "absent limb endochondral element in the limb",
+ "absent anatomical structure in the female reproductive system",
+ "forelimb",
+ "Aplasia of the uterus",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "hematopoietic system phenotype",
+ "reproductive structure phenotype",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the female reproductive system",
"system development",
- "absent limb endochondral element in the forelimb",
+ "absent reproductive structure",
+ "appendage phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
+ "blood cell",
+ "aplasia or hypoplasia of uterus",
+ "absent material anatomical entity in the reproductive system",
+ "limb bone",
+ "subdivision of oviduct",
+ "subdivision of tube atresia",
+ "absent limb long bone",
+ "internal female genitalia morphology phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "Abnormal myeloid cell morphology",
+ "absent bone of free limb or fin in the limb",
+ "segmental subdivision of nervous system",
+ "genitourinary system",
+ "absent reproductive structure in the reproductive system",
+ "reproductive structure",
+ "female organism",
+ "absent anatomical entity in the female reproductive system",
+ "multicellular organismal process",
+ "absent reproductive structure in the female reproductive system",
+ "Abnormal morphology of female internal genitalia",
+ "location of external ear phenotype",
+ "decreased qualitatively behavior",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Neurodevelopmental abnormality",
+ "Neurodevelopmental delay",
+ "closing of the organ",
+ "closing of the trunk region element",
+ "closing of the anatomical system",
+ "closing of the anatomical entity",
+ "mandible morphology phenotype",
+ "esophagus atresia",
+ "organ part atresia",
+ "anatomical structure atresia",
+ "anatomical entity atresia",
+ "process",
+ "gliogenesis",
+ "Gastrointestinal atresia",
+ "subdivision of digestive tract atresia",
+ "Esophageal atresia",
+ "anatomical system atresia",
+ "thoracic cavity element phenotype",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "material anatomical entity atresia",
+ "digestive system physiology phenotype",
+ "anatomical point phenotype",
+ "Feeding difficulties",
+ "Microtia",
+ "regional part of brain phenotype",
+ "Eumetazoa",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "cerebellum hypoplasia",
+ "brain ventricle",
+ "regional part of nervous system phenotype",
+ "Abnormal nervous system morphology",
+ "cerebellum",
+ "external genitalia",
+ "regional part of brain",
+ "midface morphology phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "head bone",
+ "nasal bridge phenotype",
+ "bone cell",
+ "nose morphology phenotype",
+ "vestibulo-auditory system",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "olfactory organ",
+ "increased width of anatomical entity",
+ "nose",
+ "Abnormality of the palpebral fissures",
+ "decreased developmental process",
+ "snout",
+ "decreased qualitatively embryo development",
+ "increased width of ectoderm-derived structure",
+ "anatomical collection",
+ "Macule",
+ "regulation of macromolecule metabolic process",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digestive system element atresia",
+ "increased width of nasal bridge",
+ "increased width of anatomical structure",
+ "nose phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "negative regulation of biological process",
+ "incomplete closing of the neural crest-derived structure",
+ "oral cavity morphology phenotype",
+ "Craniofacial cleft",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the anatomical structure",
+ "Hydrocephalus",
+ "incomplete closing of the multicellular anatomical structure",
+ "penis phenotype",
+ "absent external ear in the head",
+ "Abnormal male external genitalia morphology",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "external male genitalia",
+ "respiratory system morphology phenotype",
+ "intromittent organ",
+ "Abnormal foot morphology",
+ "External genital hypoplasia",
+ "male organism",
+ "social behavior",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "external male genitalia phenotype",
+ "Cerebellar hypoplasia",
+ "Hypoplasia of penis",
+ "Abnormal external genitalia",
+ "multicellular anatomical structure",
+ "hematopoietic system",
+ "anus atresia",
+ "bone marrow",
+ "mouth phenotype",
+ "digit phenotype",
+ "immune system phenotype",
+ "Bone marrow hypocellularity",
+ "Abnormal external nose morphology",
+ "flat nose tip",
+ "curvature anatomical entity",
+ "external nose",
+ "nose tip morphology phenotype",
+ "oligodendrocyte differentiation",
+ "Abnormal nasal tip morphology",
+ "anatomical entity physiology phenotype",
+ "erythrocyte",
+ "external nose morphology phenotype",
+ "manual digit phenotype",
+ "oxygen accumulating cell",
+ "limb segment phenotype",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
"hematopoietic cell",
- "integumental system phenotype",
- "Anal atresia",
- "increased qualitatively biological_process",
- "Abnormality of skin pigmentation",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "paired limb/fin skeleton phenotype",
- "Orofacial cleft",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
+ "Abnormality of the integument",
+ "integumental system",
+ "musculature",
+ "Localized skin lesion",
+ "pigmentation",
+ "ectoderm-derived structure",
+ "skin of body phenotype",
],
},
{
@@ -4673,8 +4506,13 @@ def autocomplete_response():
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0000104",
"HP:0001875",
+ "HP:0009777",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0000104",
"HP:0001017",
"HP:0001876",
"HP:0000028",
@@ -4682,23 +4520,18 @@ def autocomplete_response():
"HP:0001873",
"HP:0009778",
"HP:0001896",
- "HP:0009777",
"HP:0000568",
"HP:0001518",
"HP:0001263",
"HP:0003221",
- "HP:0000252",
- "HP:0001249",
"HP:0009943",
"HP:0000978",
"HP:0001627",
"HP:0000953",
"HP:0000957",
"HP:0001903",
- "HP:0000815",
"HP:0001909",
"HP:0000081",
- "HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
@@ -4707,8 +4540,13 @@ def autocomplete_response():
"HP:0000085",
],
"has_phenotype_label": [
- "Renal agenesis",
"Neutropenia",
+ "Absent thumb",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Renal agenesis",
"Anemic pallor",
"Pancytopenia",
"Cryptorchidism",
@@ -4716,23 +4554,18 @@ def autocomplete_response():
"Thrombocytopenia",
"Short thumb",
"Reticulocytopenia",
- "Absent thumb",
"Microphthalmia",
"Small for gestational age",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Intellectual disability",
"Complete duplication of thumb phalanx",
"Bruising susceptibility",
"Abnormal heart morphology",
"Hyperpigmentation of the skin",
"Cafe-au-lait spot",
"Anemia",
- "Hypergonadotropic hypogonadism",
"Leukemia",
"Duplicated collecting system",
- "Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
@@ -4743,1934 +4576,1888 @@ def autocomplete_response():
"has_phenotype_count": 32,
"has_phenotype_closure": [
"UPHENO:0041226",
+ "UPHENO:0041465",
"UPHENO:0041629",
- "UPHENO:0080300",
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
+ "UPHENO:0051124",
+ "GO:0046483",
"UPHENO:0050116",
- "UPHENO:0049671",
+ "UPHENO:0049586",
+ "UPHENO:0049964",
"GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
+ "GO:0006950",
+ "GO:0051716",
+ "HP:0003213",
+ "UPHENO:0050121",
+ "GO:0051319",
+ "GO:0007049",
+ "HP:0003214",
"UPHENO:0052160",
"UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
+ "GO:0007605",
+ "GO:0009987",
+ "HP:0000365",
+ "UPHENO:0005596",
"UBERON:0002105",
- "UPHENO:0005517",
+ "UPHENO:0041075",
+ "GO:0007600",
+ "UPHENO:0052159",
+ "UPHENO:0052970",
+ "UPHENO:0050625",
+ "UPHENO:0049699",
+ "UPHENO:0049703",
+ "GO:0006807",
"HP:0031704",
- "GO:0007605",
+ "UPHENO:0049989",
+ "UPHENO:0005512",
+ "GO:0050954",
+ "UPHENO:0005518",
"UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
"HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
+ "HP:0000708",
+ "NBO:0000444",
+ "UPHENO:0002219",
+ "NBO:0000338",
+ "UPHENO:0079828",
+ "GO:0007610",
+ "UPHENO:0002211",
+ "HP:0000496",
+ "HP:0011018",
+ "UBERON:0000015",
+ "UBERON:0010222",
+ "BFO:0000141",
+ "HP:0000486",
"UPHENO:0000543",
"HP:0001510",
"HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000081",
- "HP:0004742",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
"UPHENO:0075787",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "HP:0100542",
- "UPHENO:0053612",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001903",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0050008",
+ "UPHENO:0054970",
+ "GO:0043473",
+ "UPHENO:0050234",
"UPHENO:0080662",
- "UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004827",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
+ "UPHENO:0054957",
+ "UBERON:0000948",
+ "HP:0001627",
+ "HP:0030680",
+ "UPHENO:0050019",
+ "UBERON:0005181",
+ "UBERON:0005178",
"HP:0002597",
- "UPHENO:0004507",
- "UPHENO:0003086",
+ "HP:0001933",
+ "GO:0071704",
+ "MPATH:105",
+ "UPHENO:0002678",
+ "UBERON:0007798",
"MPATH:603",
- "UPHENO:0002576",
- "HP:0004377",
- "UBERON:0000948",
"MPATH:119",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
- "UBERON:5101463",
- "HP:0001933",
+ "GO:0006139",
+ "HP:0011354",
+ "UBERON:0000477",
+ "HP:0001626",
+ "UBERON:0001009",
+ "MPATH:0",
+ "HP:0001892",
+ "MPATH:1000",
"UBERON:0015063",
"UBERON:5106048",
+ "UBERON:5102389",
"UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
- "UBERON:0003620",
- "UBERON:0012358",
+ "UBERON:0011818",
+ "HP:0011314",
+ "UBERON:0015023",
+ "UBERON:0015024",
+ "UBERON:5101463",
+ "GO:0090304",
+ "UBERON:0012150",
+ "HP:0009942",
"HP:0009943",
- "GO:0050877",
- "HP:0001249",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0076702",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
- "UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
- "UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
- "UBERON:0001890",
- "UPHENO:0053610",
- "GO:0048523",
+ "UBERON:0003221",
+ "UBERON:0012357",
+ "GO:0005623",
+ "UPHENO:0049757",
+ "UPHENO:0049775",
+ "UPHENO:0050784",
+ "HP:0009602",
"UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "HP:0001939",
+ "NBO:0000313",
+ "GO:0010558",
+ "GO:0031327",
+ "UBERON:0000915",
+ "UPHENO:0050065",
"UPHENO:0049904",
+ "GO:0050794",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
+ "GO:0008152",
+ "GO:0051325",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0031323",
+ "UBERON:0004100",
+ "GO:0009892",
+ "UPHENO:0050025",
+ "UPHENO:0049622",
+ "UPHENO:0050435",
+ "UBERON:0000466",
+ "UPHENO:0049868",
+ "GO:0042592",
+ "UPHENO:0049743",
+ "UPHENO:0050063",
+ "UBERON:0002075",
+ "GO:0031049",
+ "GO:0031052",
"GO:0010556",
+ "GO:0031326",
"GO:0009890",
- "HP:0001000",
+ "HP:0011276",
+ "UBERON:0005897",
"GO:0010605",
"GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
+ "GO:0050789",
+ "HP:0003221",
+ "GO:0010629",
+ "UPHENO:0050040",
"UPHENO:0050778",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002433",
- "HP:0009142",
- "HP:0012758",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "UPHENO:0002267",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "GO:0008150",
- "UPHENO:0002378",
- "UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
+ "HP:0001263",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "GO:0040007",
+ "UPHENO:0010850",
"UPHENO:0054374",
+ "UBERON:0010543",
"HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
+ "UPHENO:0054304",
+ "UPHENO:0010808",
+ "GO:0006974",
+ "HP:0004323",
+ "UPHENO:0049874",
+ "UBERON:0010230",
+ "UPHENO:0049642",
+ "UBERON:0001456",
+ "UBERON:0004088",
+ "UBERON:0004456",
+ "UBERON:0000019",
+ "HP:0000568",
+ "HP:0000315",
"UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
"HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
- "UPHENO:3000007",
+ "HP:0011793",
+ "UPHENO:0002928",
+ "UPHENO:0087924",
+ "HP:0000478",
+ "UPHENO:0002866",
+ "HP:0100887",
+ "UPHENO:0002910",
+ "GO:0033554",
"UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
+ "HP:0000978",
+ "UPHENO:3000007",
"UPHENO:0069161",
- "UPHENO:0004757",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
- "UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0008604",
- "UPHENO:0053561",
+ "UPHENO:0075219",
+ "HP:0001896",
+ "UPHENO:0052178",
+ "UPHENO:0005517",
+ "UPHENO:0085263",
+ "UPHENO:0086002",
+ "UPHENO:0088148",
+ "HP:0001877",
+ "HP:0004742",
+ "UBERON:0003620",
+ "HP:0012130",
+ "HP:0004312",
+ "UPHENO:0049588",
+ "CL:0000558",
+ "UPHENO:0046411",
+ "UPHENO:0046445",
+ "UPHENO:0069236",
+ "UPHENO:0012312",
+ "UPHENO:0069327",
+ "GO:0006259",
+ "UPHENO:0046426",
+ "GO:0050896",
+ "UPHENO:0046483",
+ "HP:0009778",
+ "UPHENO:0000541",
+ "UBERON:0001436",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0074575",
+ "UPHENO:0046707",
"UPHENO:0069605",
- "HP:0000478",
- "HP:0010461",
- "UPHENO:0005025",
- "UBERON:0015024",
- "UPHENO:0053559",
- "UBERON:0011138",
- "CL:0000738",
- "UPHENO:0002685",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UPHENO:0011548",
- "HP:0000028",
- "UPHENO:0077399",
- "UPHENO:0053572",
- "HP:0011873",
- "UPHENO:0003056",
- "UPHENO:0002940",
- "HP:0001873",
- "UBERON:0000079",
- "CL:0000457",
- "HP:0000811",
- "UBERON:0011584",
- "UPHENO:0084448",
- "UPHENO:0049586",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0025661",
- "UPHENO:0088170",
- "UPHENO:0052231",
- "CL:0000764",
- "UPHENO:0005596",
+ "UPHENO:0002403",
+ "HP:0009381",
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],
"has_phenotype_closure_label": [
- "shape kidney",
- "concave 3-D shape anatomical entity",
+ "3-D shape anatomical entity",
"shape anatomical entity",
"Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "primary metabolic process",
- "cellular response to stimulus",
"response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
"interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
+ "ear",
"sensory perception",
- "Abnormality of the ear",
"decreased sensory perception",
- "cell cycle",
+ "decreased nervous system process",
"decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
"decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
"anatomical line",
- "ectoderm-derived structure physiology phenotype",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
"eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of eye movement",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
"size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Abnormal localization of kidney",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
"Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
"Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "glandular system",
+ "Leukemia",
+ "neoplasm phenotype",
+ "Localized skin lesion",
"Cafe-au-lait spot",
- "Hypermelanotic macule",
- "ear phenotype",
- "increased pigmentation",
- "Hyperpigmentation of the skin",
- "Abnormality of skin pigmentation",
+ "Macule",
+ "biological_process rate phenotype",
"increased qualitatively biological_process",
- "heart phenotype",
- "circulatory organ phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
+ "Hyperpigmentation of the skin",
"Abnormal heart morphology",
- "anatomical cluster",
- "Irregular hyperpigmentation",
- "circulatory system",
- "Abnormal bleeding",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "Abnormality of the cardiovascular system",
+ "anatomical cluster phenotype",
"Generalized abnormality of skin",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
+ "Vascular skin abnormality",
+ "vasculature",
+ "pigmentation",
+ "Abnormal finger phalanx morphology",
+ "Duplication of thumb phalanx",
"Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
"manual digit 1 phalanx",
- "phalanx of manus",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
"phalanx",
- "macromolecule metabolic process",
- "Intellectual disability",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
"regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
+ "regulation of biosynthetic process",
+ "pigmentation phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
"negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
"regulation of cellular biosynthetic process",
+ "DNA metabolic process",
"negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
+ "Chromosomal breakage induced by crosslinking agents",
"negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "Global developmental delay",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
"Neurodevelopmental delay",
- "nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "Neurodevelopmental abnormality",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
"multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
"camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
"Abnormality of the eye",
- "eye",
- "face",
+ "face phenotype",
"orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
+ "sense organ",
"Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
"eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "location of anatomical entity phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "All",
- "Cryptorchidism",
- "reproductive organ phenotype",
- "kidney",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "face phenotype",
- "localised male reproductive organ",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
"enucleated reticulocyte morphology phenotype",
- "aplasia or hypoplasia of manual digit",
- "absent radius endochondral element in the forelimb",
- "localised reproductive organ",
- "number of leukocyte phenotype",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "Abnormal myeloid cell morphology",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "appendage girdle complex",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "male reproductive organ phenotype",
- "reproductive structure",
- "erythroid lineage cell morphology phenotype",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "skin of body morphology phenotype",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "cell",
- "head morphology phenotype",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
+ "decreased length of digit 1",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of autopodial extension",
+ "decreased size of the material anatomical entity",
+ "Short thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of manual digit",
+ "decreased length of anatomical structure",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "decreased size of the anatomical entity",
+ "decreased length of organism subdivision",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of radius bone",
+ "forelimb zeugopod bone phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "absent forelimb zeugopod bone",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "absent bone element in the limb",
+ "forelimb zeugopod morphology phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent long bone",
+ "bone of pectoral complex morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "Abnormal forearm bone morphology",
+ "absent radius bone in the forelimb",
+ "bone of pectoral complex phenotype",
+ "limb long bone morphology phenotype",
+ "absent endochondral bone in the forelimb",
+ "absent limb endochondral element in the limb",
+ "delayed growth",
+ "arm bone phenotype",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "cellular process",
+ "long bone morphology phenotype",
+ "absent endochondral element",
+ "absent organ in the limb",
+ "Aplasia/Hypoplasia of the radius",
+ "vestibulo-auditory system",
+ "absent limb endochondral element",
+ "absent limb bone",
+ "forelimb bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "Absent forearm bone",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "absent bone element",
+ "Abnormal morphology of the radius",
+ "Reticulocytopenia",
+ "absent forelimb bone in the limb",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "forelimb long bone phenotype",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "radius bone phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "regulation of biosynthetic process phenotype",
"zeugopod",
- "Neutropenia",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "Pallor",
- "reproductive structure phenotype",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "number of anatomical enitites of type neutrophil phenotype",
- "tissue",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "hematopoietic system",
- "bone cell",
- "number of anatomical enitites of type kidney phenotype",
- "eukaryotic cell",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "nucleate cell",
- "bone marrow",
- "granulocyte",
- "cell phenotype",
- "decreased number of material anatomical entity",
- "Abnormal skeletal morphology",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormality of the male genitalia",
- "musculature of body",
- "absent multicellular anatomical structure in the limb",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "trunk",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "blood cell",
- "Abnormality of the immune system",
- "absent compound organ in the renal system",
- "Short stature",
- "radius bone",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nervous system physiology phenotype",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased functionality of the gonad",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "subdivision of head",
+ "absent mesoderm-derived structure in the forelimb",
+ "appendage girdle complex",
+ "digit phenotype",
+ "Renal hypoplasia/aplasia",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "kinesthetic behavior",
+ "Eumetazoa",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "Duplication of hand bones",
+ "nervous system process",
+ "skeletal element phenotype",
"appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "superficial fascia",
- "immune system",
- "Abnormal male external genitalia morphology",
- "disconnected anatomical group",
- "decreased number of neutrophil",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
"decreased size of the anatomical structure",
- "anatomical entity phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "growth",
- "subdivision of organism along appendicular axis phenotype",
+ "organ",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
"entity",
+ "manual digit 1 phalanx endochondral element",
+ "tissue",
+ "forelimb zeugopod bone morphology phenotype",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "acropodial skeleton",
"autopod region morphology phenotype",
- "localised anatomical structure",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "localised anatomical entity",
- "absent lateral structure in the renal system",
- "Abnormal limb bone morphology",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal cellular immune system morphology",
- "Abnormality of the vasculature",
- "gonad",
- "bone element",
- "pectoral appendage",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "testis",
- "long bone phenotype",
- "lateral structure",
- "multicellular organism",
- "trunk region element phenotype",
- "absent multicellular anatomical structure in the renal system",
- "serotonin secreting cell",
- "arm bone phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "absent forelimb long bone",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "ectoderm-derived structure",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased multicellular organismal process",
"root",
- "external genitalia phenotype",
- "renal system",
- "non-connected functional system",
- "gonad phenotype",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "motile cell",
- "decreased size of the digit",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "multicellular anatomical structure",
- "craniocervical region",
- "decreased length of organism subdivision",
- "number of anatomical enitites of type trunk region element phenotype",
- "organ phenotype",
- "skeleton",
- "genitourinary system phenotype",
- "Abnormal testis morphology",
- "postcranial axial skeleton",
- "organ system subdivision",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "organ",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "decreased number of anatomical entity",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
+ "localised testis",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
"anterior region of body",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "abdominal segment of trunk",
- "anatomical structure",
- "Growth abnormality",
- "skeletal system phenotype",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
+ "cardiovascular system",
+ "absent skeletal element",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
"organism subdivision phenotype",
- "cell cycle phenotype",
- "platelet",
- "multi-limb segment region phenotype",
+ "appendage phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "multi-limb segment region",
+ "manual digit plus metapodial segment",
+ "digit 1 plus metapodial segment",
+ "anatomical entity length phenotype",
+ "digit",
"digit 1 or 5 phenotype",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "absent lateral structure",
- "skull",
- "Short thumb",
- "Abnormality of the hand",
- "primary circulatory organ",
- "head phenotype",
- "localised organ",
- "anatomical entity",
- "Ectopic kidney",
- "decreased number of granulocyte",
+ "Abnormal digit morphology",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "limb",
+ "cell",
+ "absent anatomical entity in the renal system",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "absent skeletal element in the forelimb",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
"absent organism subdivision",
- "skin of body phenotype",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
+ "Neurodevelopmental abnormality",
+ "manus phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "axial skeleton plus cranial skeleton",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "absent mesoderm-derived structure",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "skeleton of manus",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "autopodial extension phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "G2 phase",
+ "nervous system phenotype",
+ "All",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "paired limb/fin segment phenotype",
+ "absent anatomical structure in the forelimb",
+ "acropodium region",
+ "Intellectual disability",
+ "bone marrow",
+ "Abnormality of the ear",
"absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent material anatomical entity in the renal system",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "absent kidney in the renal system",
- "number of anatomical enitites of type endochondral bone phenotype",
- "specifically dependent continuant",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "arm phenotype",
+ "hematopoietic system",
+ "agenesis of anatomical entity",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "absent kidney",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "arm",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "manual digit",
+ "limb bone morphology phenotype",
+ "Abnormal skeletal morphology",
+ "anatomical system",
+ "absent anatomical structure in the limb",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "decreased size of the sense organ",
+ "anatomical collection phenotype",
"quality",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "number of anatomical enitites of type anatomical structure phenotype",
- "face morphology phenotype",
- "subdivision of trunk",
- "endocrine system phenotype",
- "reproductive system",
- "absent forelimb long bone in the forelimb",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "musculature of body phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "upper urinary tract phenotype",
+ "decreased number of platelet",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased number of anatomical entity",
+ "Abnormal cellular phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
+ "musculature",
+ "regional part of brain",
+ "Abnormality of limbs",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "skeletal element",
+ "taxon specific phenotype",
+ "granulocyte morphology phenotype",
+ "biological phase",
+ "autopod bone",
"mesoderm-derived structure",
- "sensory perception of mechanical stimulus phenotype",
+ "cell phenotype",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "anatomical entity morphology phenotype",
+ "Abnormal localization of kidney",
+ "size of skull phenotype",
"digit 1",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "circulatory system",
+ "bone marrow cell",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "eye phenotype",
+ "Abnormal cellular immune system morphology",
+ "absent multicellular anatomical structure in the limb",
+ "endocrine system phenotype",
+ "multicellular organism morphology phenotype",
"skeletal system",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "number of anatomical enitites of type abdomen element phenotype",
- "Abnormal granulocyte count",
- "absent kidney",
- "forelimb morphology phenotype",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "number of myeloid cell phenotype",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "skeleton",
+ "Abnormal bleeding",
+ "immune system phenotype",
+ "decreased functionality of the organ",
+ "aplasia or hypoplasia of manual digit 1",
+ "reproductive system physiology phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "absent autopodial extension",
+ "hematopoietic system phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "skeleton of pectoral complex",
+ "eukaryotic cell",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "specifically dependent continuant",
+ "arm bone",
+ "Abnormal myeloid leukocyte morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "structure with developmental contribution from neural crest phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "immune system",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
+ "Prolonged G2 phase of cell cycle",
+ "pectoral appendage skeleton",
+ "Abnormality of skin pigmentation",
"phenotypic effect",
- "Abnormality of the genitourinary system",
- "Thrombocytopenia",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
- "Short finger",
+ "size of anatomical entity phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "organ physiology phenotype",
+ "Abnormal cell morphology",
"phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "main body axis",
- "vision/eye phenotype",
- "bone marrow cell",
- "Abnormality of the kidney",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "localised gonad",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "abdominal segment element phenotype",
- "subdivision of trunk phenotype",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "absent abdomen element in the renal system",
- "Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "cavitated compound organ",
+ "limb endochondral element",
+ "digit plus metapodial segment",
+ "skeletal system phenotype",
+ "absent anatomical entity",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "Complete duplication of phalanx of hand",
+ "limb bone",
+ "granulocyte",
+ "bone of appendage girdle complex phenotype",
"number of anatomical enitites of type lateral structure phenotype",
- "nervous system process phenotype",
+ "shape kidney",
+ "ectoderm-derived structure physiology phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
"neutrophil phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "upper limb segment phenotype",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "leukocyte",
- "material entity",
- "Abnormal granulocyte morphology",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "manual digit plus metapodial segment",
"external male genitalia",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "absent bone of free limb or fin",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent bone element in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "anatomical collection",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
+ "aplasia or hypoplasia of skeleton",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
+ "localised multicellular anatomical structure",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "absent bone of appendage girdle complex in the limb",
+ "number of cell phenotype",
+ "number of leukocyte phenotype",
+ "platelet",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
"manual digit phenotype",
- "trunk phenotype",
- "digit 1 digitopodial skeleton",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "DNA metabolic process phenotype",
+ "multi-limb segment region phenotype",
"hemolymphoid system",
- "absent cavitated compound organ in the renal system",
- "lateral structure phenotype",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
+ "decreased number of material anatomical entity",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "Abnormal nervous system physiology",
+ "Abnormality of the immune system",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical structure mass phenotype",
+ "multicellular organism",
+ "decreased functionality of the anatomical structure",
+ "Thrombocytopenia",
+ "leukocyte",
+ "increased biological_process in skin of body",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
"number of anatomical enitites of type compound organ phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
+ "cellular response to stimulus phenotype",
+ "absent bone element in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent anatomical entity in the forelimb",
+ "multicellular anatomical structure",
+ "primary metabolic process",
+ "Abnormality of the skin",
+ "forelimb endochondral element",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "cell cycle",
+ "pectoral complex",
+ "decreased size of the manual digit",
+ "trunk region element",
+ "absent limb long bone in the forelimb",
"Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "limb segment",
- "localised multicellular anatomical structure",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
+ "Microcephaly",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "decreased size of the autopodial extension",
"absent bone of pectoral complex in the limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "Abnormal finger phalanx morphology",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "absent bone of pectoral complex in the forelimb",
- "heart",
- "limb bone phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
+ "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "absent trunk region element in the renal system",
+ "continuant",
+ "paired limb/fin phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "musculature of body",
+ "camera-type eye phenotype",
+ "manus",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "integument phenotype",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "anatomical entity morphology in the manus phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "anatomical structure",
+ "localised trunk region element",
+ "absent lateral structure",
+ "Anemia",
+ "manus bone",
+ "Abnormality of the hand",
+ "radius bone",
+ "Subcutaneous hemorrhage",
"absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "negative regulation of metabolic process phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "limb segment",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "forelimb morphology phenotype",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "subdivision of organism along appendicular axis",
+ "absent anatomical structure in the multicellular organism",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "autopodial skeleton",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
+ "multicellular organism phenotype",
+ "external genitalia phenotype",
+ "system process",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "reproductive structure physiology phenotype",
+ "behavior phenotype",
+ "forelimb zeugopod bone",
+ "nervous system",
+ "renal system",
+ "endochondral bone phenotype",
+ "cognition",
+ "absent abdominal segment element",
+ "localised anatomical structure",
+ "simple eye phenotype",
"abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "decreased biological_process",
- "Absent radius",
- "skeletal element phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeleton",
- "absent anatomical structure in the skeletal system",
+ "absent anatomical structure",
+ "localised kidney",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent cavitated compound organ",
+ "Abnormal renal morphology",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "renal system phenotype",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "renal collecting system",
+ "immune system morphology phenotype",
+ "Ectopic kidney",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
+ "absent endochondral bone",
+ "localised organ",
+ "body proper",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
"Short digit",
- "oxygen accumulating cell",
- "absent bone of appendage girdle complex",
- "Decreased head circumference",
- "material anatomical entity",
- "absent bone of free limb or fin in the limb",
- "myeloid leukocyte",
- "autopodial extension phenotype",
- "regulation of biological process",
- "manual digit",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "forelimb",
- "digit 1 or 5",
- "decreased number of leukocyte",
- "long bone",
- "absent abdominal segment element",
- "endochondral bone",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "absent organ",
- "absent bone of appendage girdle complex in the limb",
- "absent forelimb zeugopod bone",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "absent radius bone in the forelimb",
- "external genitalia",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
+ "absent multicellular anatomical structure in the renal system",
+ "eye",
"compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "eye movement",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "pectoral appendage skeleton phenotype",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
+ "zeugopodial skeleton",
"limb long bone",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "absent compound organ",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "anucleate cell",
- "absent mesoderm-derived structure in the multicellular organism",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "decreased length of manual digit 1",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
"manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
+ "abdomen",
+ "compound organ phenotype",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormal granulocyte count",
+ "skin of body phenotype",
+ "Abnormality of the kidney",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "excretory system",
+ "subdivision of organism along main body axis",
+ "Abnormal conjugate eye movement",
"renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
+ "forelimb bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "upper urinary tract phenotype",
+ "integument",
+ "platelet phenotype",
+ "biological_process",
+ "genitourinary system phenotype",
"decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
"manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "Growth delay",
+ "kidney",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "organic substance metabolic process",
+ "heart",
+ "Abnormality of the head",
+ "limb long bone phenotype",
+ "multi-tissue structure",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "absent arm bone",
+ "reproductive organ",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "Abnormality of body weight",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased size of the multicellular organism",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "craniocervical region",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "subdivision of organism along main body axis phenotype",
+ "regulation of gene expression phenotype",
+ "system",
+ "brain morphology phenotype",
+ "forelimb skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "decreased length of manual digit 1 or 5",
+ "decreased functionality of the multicellular anatomical structure",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
+ "erythroid lineage cell",
+ "telencephalon",
+ "head phenotype",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Abnormal brain morphology",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "Abnormality of the genital system",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "myeloid leukocyte phenotype",
+ "forebrain",
+ "gonad physiology phenotype",
+ "nucleate cell",
+ "reproductive structure phenotype",
"multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1",
+ "limb endochondral element phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "absent arm bone in the forelimb",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "absent lateral structure in the renal system",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "gonad phenotype",
+ "immaterial entity",
+ "Abnormality of chromosome stability",
+ "anatomical entity dysfunction in independent continuant",
+ "Neutropenia",
+ "reproductive structure",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "neutrophil",
+ "absent abdomen element",
+ "decreased number of anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "number of anatomical enitites of type organ phenotype",
+ "Duplication of phalanx of hand",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent organ",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "biological regulation",
+ "Global developmental delay",
+ "abdominal segment of trunk",
+ "absent trunk region element",
+ "Renal agenesis",
+ "motile cell",
+ "absent abdominal segment element in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent organ in the renal system",
+ "digit morphology phenotype",
+ "absent abdomen element in the renal system",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "absent compound organ",
+ "oxygen accumulating cell",
+ "Abnormality of the integument",
+ "erythroid lineage cell morphology phenotype",
+ "sensory perception of mechanical stimulus",
+ "Abnormal upper limb bone morphology",
+ "skin of body",
+ "integumental system",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "Abnormal skin morphology",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "absent bone of appendage girdle complex",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "testis",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "testis phenotype",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "absent forelimb bone in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "forelimb long bone",
+ "serotonin secreting cell",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "radius endochondral element",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "Aplasia involving bones of the upper limbs",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "absent limb endochondral element in the forelimb",
+ "regulation of biological process phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "absent anatomical structure in the skeletal system",
],
},
{
@@ -6743,35 +6530,48 @@ def autocomplete_response():
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0100867",
- "HP:0100760",
+ "HP:0000047",
+ "HP:0002575",
+ "HP:0000483",
+ "HP:0000238",
+ "HP:0001249",
+ "HP:0001000",
"HP:0100587",
- "HP:0100542",
"HP:0100026",
"HP:0040071",
+ "HP:0006824",
+ "HP:0005344",
+ "HP:0002414",
+ "HP:0000582",
+ "HP:0000518",
+ "HP:0000508",
+ "HP:0000252",
+ "HP:0010469",
+ "HP:0000377",
+ "HP:0002119",
+ "HP:0001392",
+ "HP:0000864",
+ "HP:0000316",
+ "HP:0000027",
+ "HP:0002863",
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100542",
"HP:0012639",
"HP:0012041",
- "HP:0010469",
"HP:0010293",
"HP:0008678",
- "HP:0000377",
"HP:0008053",
"HP:0007565",
- "HP:0006824",
"HP:0006265",
"HP:0006101",
- "HP:0005344",
"HP:0004349",
"HP:0004209",
"HP:0003022",
- "HP:0002863",
"HP:0002827",
"HP:0002823",
- "HP:0002575",
- "HP:0002414",
"HP:0002251",
"HP:0002245",
- "HP:0002119",
"HP:0002023",
"HP:0002007",
"HP:0001824",
@@ -6788,22 +6588,16 @@ def autocomplete_response():
"HP:0001537",
"HP:0001511",
"HP:0001510",
- "HP:0001392",
"HP:0001347",
"HP:0001199",
- "HP:0000864",
"HP:0000813",
"HP:0000639",
- "HP:0000582",
"HP:0000568",
"HP:0000520",
- "HP:0000518",
- "HP:0000508",
"HP:0000505",
"HP:0000504",
"HP:0000492",
"HP:0000486",
- "HP:0000483",
"HP:0000478",
"HP:0000453",
"HP:0000365",
@@ -6811,20 +6605,16 @@ def autocomplete_response():
"HP:0000347",
"HP:0000340",
"HP:0000324",
- "HP:0000316",
"HP:0000286",
"HP:0000268",
- "HP:0000238",
"HP:0000218",
"HP:0000175",
"HP:0000135",
"HP:0000130",
"HP:0000083",
"HP:0000072",
- "HP:0000047",
"HP:0000035",
"HP:0000028",
- "HP:0000027",
"HP:0000010",
"HP:0012745",
"HP:0012210",
@@ -6833,8 +6623,6 @@ def autocomplete_response():
"HP:0002650",
"HP:0001671",
"HP:0001263",
- "HP:0001249",
- "HP:0000252",
"HP:0000079",
"HP:0007400",
"HP:0006501",
@@ -6848,38 +6636,50 @@ def autocomplete_response():
"HP:0001871",
"HP:0001172",
"HP:0001053",
- "HP:0001000",
],
"has_phenotype_label": [
- "Duodenal stenosis",
- "Clubbing of toes",
+ "Hypospadias",
+ "Tracheoesophageal fistula",
+ "Astigmatism",
+ "Hydrocephalus",
+ "Intellectual disability",
+ "Abnormality of skin pigmentation",
"Abnormal preputium morphology",
- "Abnormal localization of kidney",
"Arteriovenous malformation",
"Abnormal morphology of ulna",
+ "Cranial nerve paralysis",
+ "Abnormal carotid artery morphology",
+ "Spina bifida",
+ "Upslanted palpebral fissure",
+ "Cataract",
+ "Ptosis",
+ "Microcephaly",
+ "Absent testis",
+ "Abnormal pinna morphology",
+ "Ventriculomegaly",
+ "Abnormality of the liver",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Hypertelorism",
+ "Azoospermia",
+ "Myelodysplasia",
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal localization of kidney",
"Abnormal nervous system morphology",
"Decreased fertility in males",
- "Absent testis",
"Aplasia/Hypoplasia of the uvula",
"Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
"Aplasia/Hypoplasia of the iris",
"Multiple cafe-au-lait spots",
- "Cranial nerve paralysis",
"Aplasia/Hypoplasia of fingers",
"Finger syndactyly",
- "Abnormal carotid artery morphology",
"Reduced bone mineral density",
"Clinodactyly of the 5th finger",
"Hypoplasia of the ulna",
- "Myelodysplasia",
"Hip dislocation",
"Abnormal femur morphology",
- "Tracheoesophageal fistula",
- "Spina bifida",
"Aganglionic megacolon",
"Meckel diverticulum",
- "Ventriculomegaly",
"Anal atresia",
"Frontal bossing",
"Weight loss",
@@ -6896,22 +6696,16 @@ def autocomplete_response():
"Umbilical hernia",
"Intrauterine growth retardation",
"Growth delay",
- "Abnormality of the liver",
"Hyperreflexia",
"Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
"Bicornuate uterus",
"Nystagmus",
- "Upslanted palpebral fissure",
"Microphthalmia",
"Proptosis",
- "Cataract",
- "Ptosis",
"Visual impairment",
"Abnormality of vision",
"Abnormal eyelid morphology",
"Strabismus",
- "Astigmatism",
"Abnormality of the eye",
"Choanal atresia",
"Hearing impairment",
@@ -6919,20 +6713,16 @@ def autocomplete_response():
"Micrognathia",
"Sloping forehead",
"Facial asymmetry",
- "Hypertelorism",
"Epicanthus",
"Dolichocephaly",
- "Hydrocephalus",
"High palate",
"Cleft palate",
"Hypogonadism",
"Abnormality of the uterus",
"Renal insufficiency",
"Hydroureter",
- "Hypospadias",
"Abnormal testis morphology",
"Cryptorchidism",
- "Azoospermia",
"Recurrent urinary tract infections",
"Short palpebral fissure",
"Abnormal renal morphology",
@@ -6941,8 +6731,6 @@ def autocomplete_response():
"Scoliosis",
"Abnormal cardiac septum morphology",
"Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
"Abnormality of the urinary system",
"Irregular hyperpigmentation",
"Aplasia/Hypoplasia of the radius",
@@ -6956,10502 +6744,10000 @@ def autocomplete_response():
"Abnormality of blood and blood-forming tissues",
"Abnormal thumb morphology",
"Hypopigmented skin patches",
- "Abnormality of skin pigmentation",
],
"has_phenotype_count": 106,
"has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
- "UPHENO:0077889",
+ "HP:0001010",
+ "HP:0001873",
+ "UPHENO:0080010",
+ "CL:0000457",
"UPHENO:0077373",
- "UPHENO:0077391",
- "HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
+ "CL:0000233",
+ "CL:0000458",
+ "UPHENO:0085344",
+ "HP:0011875",
+ "UPHENO:0086173",
+ "HP:0011893",
"CL:0000738",
+ "UPHENO:0088166",
+ "UPHENO:0035160",
+ "UPHENO:0088319",
+ "UPHENO:0076675",
+ "UBERON:0000179",
"CL:0000255",
- "HP:0001881",
- "UPHENO:0063722",
+ "CL:0000219",
+ "UBERON:0000178",
+ "UPHENO:0077348",
"UPHENO:0085410",
- "UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
+ "UPHENO:0049904",
+ "GO:0008152",
"HP:0003220",
- "HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
"HP:0000002",
+ "UPHENO:0080351",
"UPHENO:0075159",
- "HP:0004322",
- "GO:0034101",
- "HP:0001877",
- "HP:0001903",
- "GO:0030218",
+ "HP:0010972",
+ "GO:0030099",
+ "GO:0030097",
+ "CL:0000988",
+ "GO:0048872",
+ "GO:0042592",
+ "GO:0002376",
+ "GO:0009987",
+ "HP:0001877",
+ "CL:0000232",
+ "HP:0005522",
+ "GO:0048871",
+ "GO:0048869",
+ "UPHENO:0088170",
"CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
"CL:0001035",
- "GO:0042592",
+ "GO:0030218",
+ "UPHENO:0088162",
"HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
- "UPHENO:0080187",
- "HP:0002818",
"UBERON:0015001",
- "UPHENO:0087510",
- "UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
- "HP:0001249",
+ "UPHENO:0080187",
+ "HP:0002650",
"HP:0200005",
- "UPHENO:0075944",
"UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
+ "UPHENO:0069119",
"UPHENO:0046755",
+ "UPHENO:0075198",
"UPHENO:0069562",
- "UBERON:0002405",
+ "HP:0000010",
+ "UPHENO:0002263",
"UPHENO:0002948",
- "UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
- "UPHENO:0052965",
- "UPHENO:0086172",
- "UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
- "UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
- "UPHENO:0078452",
- "UPHENO:0053563",
"UPHENO:0053561",
- "UPHENO:0053571",
+ "CL:0000329",
+ "UPHENO:0053632",
+ "UPHENO:0002940",
+ "UPHENO:0053647",
+ "UPHENO:0053644",
"UPHENO:0053572",
- "UPHENO:0075933",
- "UBERON:0010418",
- "UBERON:0001333",
+ "HP:0000028",
+ "UPHENO:0053559",
"UBERON:0000056",
- "UBERON:0036295",
- "UPHENO:0002806",
- "UBERON:0006555",
"UPHENO:0002636",
- "UPHENO:0076780",
+ "UBERON:0036295",
"HP:0000072",
+ "UBERON:0006555",
+ "UPHENO:0003101",
+ "HP:0025633",
+ "UPHENO:0002859",
"UPHENO:0002426",
- "HP:0011277",
"UPHENO:0002377",
+ "UPHENO:0002427",
+ "UPHENO:0002442",
+ "UPHENO:0002411",
"HP:0012211",
+ "UPHENO:0002422",
+ "HP:0000135",
"UPHENO:0003056",
- "HP:0002719",
+ "UPHENO:0002381",
"UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
- "HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
+ "UPHENO:0066945",
+ "UPHENO:0033589",
+ "UPHENO:0002806",
"UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
- "UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
+ "HP:5201015",
+ "UPHENO:0077399",
+ "UPHENO:0001392",
"HP:0000218",
- "GO:0008152",
- "UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
"UPHENO:0063518",
- "UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
- "UPHENO:0014761",
- "UPHENO:0014240",
- "HP:0010987",
- "UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
- "HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
+ "UPHENO:0063524",
+ "UPHENO:0081423",
+ "UPHENO:0063529",
+ "UPHENO:0063519",
+ "HP:0000268",
+ "UPHENO:0072402",
+ "UPHENO:0072332",
+ "UPHENO:0087058",
+ "UBERON:1000021",
"UPHENO:0087928",
"UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
- "UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
"UBERON:0013766",
+ "UPHENO:0072293",
"UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
- "UPHENO:0072332",
- "UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
- "UPHENO:0072195",
- "CL:0002092",
"UPHENO:0084734",
"HP:0001999",
- "UPHENO:0084729",
"HP:0000324",
- "HP:0000340",
+ "HP:0001263",
"UPHENO:0005982",
+ "UPHENO:0041151",
"UPHENO:0041083",
- "UPHENO:0002942",
"HP:0000347",
- "UPHENO:0081786",
- "UPHENO:0002868",
+ "HP:0000286",
+ "HP:0009118",
+ "UPHENO:0081314",
+ "CL:0000081",
"UBERON:0012360",
- "HP:0009122",
+ "UPHENO:0002732",
+ "UBERON:0001710",
+ "UPHENO:0076780",
+ "UPHENO:0002815",
+ "HP:0011873",
+ "UPHENO:0081788",
+ "UPHENO:0088116",
+ "UPHENO:0002772",
"UPHENO:0081141",
- "HP:0009116",
- "UPHENO:0075890",
- "HP:0011821",
- "UPHENO:0080165",
- "UBERON:0001684",
+ "HP:0012745",
+ "UPHENO:0002818",
"UPHENO:0080087",
- "UPHENO:0005437",
- "UPHENO:0050234",
- "UPHENO:0005517",
- "GO:0007605",
- "UPHENO:0052231",
+ "UBERON:0001708",
+ "UBERON:0003278",
+ "UBERON:0001684",
+ "UPHENO:0002761",
+ "HP:0000277",
+ "UBERON:0004768",
+ "UPHENO:0081786",
+ "UPHENO:0002942",
+ "HP:0009116",
+ "HP:0000365",
+ "UPHENO:0052970",
+ "UPHENO:0005513",
+ "UPHENO:0005518",
+ "UPHENO:0087894",
+ "UPHENO:0063621",
+ "HP:0000453",
"HP:0000415",
"HP:0000366",
- "UBERON:0010425",
"UPHENO:0002906",
- "UPHENO:0087894",
- "UBERON:0002268",
- "UPHENO:0072414",
- "UPHENO:0063588",
- "UBERON:0005725",
+ "UPHENO:0063595",
+ "UPHENO:0033635",
+ "UBERON:0004771",
"UBERON:0000003",
- "UBERON:0005726",
- "UPHENO:0005071",
- "HP:0005105",
- "UPHENO:0003048",
- "UBERON:0012430",
- "UPHENO:0031123",
- "UPHENO:0086198",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0031142",
- "UPHENO:0004764",
- "UPHENO:0076704",
- "HP:0002692",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UPHENO:0075877",
- "UBERON:0000964",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0041053",
- "UPHENO:0003395",
- "UBERON:0000015",
- "HP:0000549",
"HP:0000486",
- "CL:0000151",
- "UPHENO:0050620",
- "UPHENO:0052159",
- "UPHENO:0052164",
+ "GO:0034101",
+ "UPHENO:0050622",
"UPHENO:0052165",
+ "UPHENO:0052159",
"UPHENO:0052162",
- "HP:0000505",
- "HP:0000504",
- "UPHENO:0041410",
- "HP:0000517",
- "UPHENO:0084816",
- "HP:0000518",
- "HP:0100886",
- "UPHENO:0069523",
- "HP:0100887",
- "HP:0000568",
+ "UPHENO:0050236",
+ "GO:0050953",
+ "UPHENO:0052161",
+ "UPHENO:0052164",
+ "UPHENO:0085881",
+ "HP:0000520",
"UPHENO:0068914",
- "HP:0000582",
- "HP:0012758",
- "HP:0200006",
- "UBERON:0001711",
- "HP:0008050",
- "UPHENO:0076761",
- "UPHENO:0003085",
- "UPHENO:0002301",
- "UPHENO:0002403",
+ "HP:0100887",
+ "UPHENO:0069161",
+ "UPHENO:0075219",
+ "UPHENO:0002467",
+ "UPHENO:0003044",
+ "HP:0000359",
+ "UPHENO:0079828",
+ "HP:0031704",
+ "HP:0000496",
"HP:0007670",
- "UPHENO:0015184",
- "UPHENO:0002386",
- "HP:0001751",
- "UBERON:0035639",
- "HP:0012373",
- "UPHENO:0081424",
- "UPHENO:0078736",
"UPHENO:0002240",
- "HP:0012547",
- "HP:0031704",
- "NBO:0000416",
- "UPHENO:0002211",
- "UPHENO:0079828",
- "GO:0048872",
- "UPHENO:0002467",
- "NBO:0000444",
- "HP:0011389",
- "UPHENO:0002955",
- "UPHENO:0002687",
- "HP:0000130",
- "UBERON:0003100",
+ "UPHENO:0079837",
+ "HP:0000008",
"UPHENO:0005170",
- "UPHENO:0002598",
- "UPHENO:0072255",
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+ "UBERON:0003464",
+ "UPHENO:0053500",
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+ "UPHENO:0080011",
+ "UPHENO:0009163",
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+ "UBERON:0002513",
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+ "UPHENO:0052965",
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+ "UPHENO:0026146",
+ "UBERON:0005173",
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+ "UBERON:0010707",
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+ "UPHENO:0002378",
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+ "UPHENO:0002321",
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+ "UPHENO:0081709",
+ "UPHENO:0053298",
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+ "UPHENO:0033562",
+ "UPHENO:0002648",
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+ "UPHENO:0033607",
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+ "UPHENO:0046403",
+ "GO:0019953",
+ "UBERON:0008784",
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+ "UPHENO:0035147",
+ "UPHENO:0085875",
+ "UPHENO:0002406",
+ "UPHENO:0082875",
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+ "UPHENO:0010799",
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+ "UPHENO:0005512",
+ "GO:0022414",
+ "GO:0007283",
+ "HP:0011389",
+ "GO:0007276",
+ "GO:0050881",
+ "HP:0008669",
+ "UPHENO:0002868",
+ "UPHENO:0087531",
+ "UPHENO:0086198",
+ "UPHENO:0033592",
+ "HP:0000027",
+ "UBERON:0035133",
+ "NCBITaxon:6072",
+ "UPHENO:0002599",
+ "UPHENO:0026506",
+ "UPHENO:0002875",
+ "UPHENO:0002323",
+ "UPHENO:0005185",
+ "UBERON:0004529",
+ "HP:0012874",
+ "UBERON:0015030",
+ "HP:0002664",
+ "UBERON:0002390",
"UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
- "UBERON:0012180",
- "RO:0002577",
+ "UPHENO:0014240",
+ "UPHENO:0003082",
+ "UPHENO:3000003",
+ "UPHENO:0068898",
+ "UPHENO:0087597",
+ "NCBITaxon:1",
+ "UBERON:0002114",
+ "UBERON:0000160",
+ "HP:0002244",
+ "UPHENO:0076728",
+ "UBERON:0002108",
+ "UPHENO:0002808",
+ "UPHENO:0087427",
+ "UPHENO:0076783",
+ "UPHENO:0052231",
+ "UPHENO:0081594",
+ "HP:0001882",
+ "UBERON:0005440",
+ "UPHENO:0002905",
+ "UPHENO:0075944",
+ "UPHENO:0084654",
+ "UPHENO:0033603",
+ "UBERON:0001466",
+ "UBERON:0001449",
+ "UBERON:0001711",
+ "UBERON:0003221",
+ "UPHENO:0087369",
"UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
- "UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
+ "HP:0040068",
+ "UBERON:0002470",
+ "UBERON:0012139",
+ "CL:0000586",
+ "UBERON:0012359",
+ "UBERON:0003113",
+ "UPHENO:0041212",
+ "UBERON:0010543",
+ "CL:0000763",
+ "UPHENO:0002838",
+ "UPHENO:0049586",
+ "UBERON:0010742",
+ "HP:0004349",
+ "HP:0001639",
+ "UPHENO:0002896",
+ "UPHENO:0076806",
+ "UPHENO:0063581",
+ "UPHENO:0087501",
+ "UPHENO:0053563",
+ "UBERON:0002386",
+ "UPHENO:0076800",
+ "UBERON:0002387",
+ "UBERON:0010538",
+ "UBERON:0005445",
+ "UPHENO:0046540",
+ "UBERON:0012142",
+ "UBERON:0010758",
+ "UBERON:0001890",
+ "UPHENO:0002994",
+ "UPHENO:0081091",
+ "UPHENO:0081575",
+ "UBERON:0004053",
+ "HP:0040072",
+ "UBERON:0001441",
+ "UBERON:0015023",
+ "UBERON:0000154",
+ "UBERON:0004122",
+ "HP:0009826",
+ "UPHENO:0002964",
+ "UPHENO:0088140",
+ "UBERON:0006314",
+ "UPHENO:0041821",
+ "UPHENO:0002733",
+ "HP:0001824",
+ "UBERON:0004709",
+ "UPHENO:0086628",
+ "UPHENO:0076748",
+ "UBERON:0012152",
+ "UPHENO:0078375",
+ "UBERON:0010696",
+ "NBO:0000444",
+ "UPHENO:0081344",
+ "UPHENO:0086866",
+ "UBERON:0001445",
+ "UPHENO:0084763",
+ "HP:0100760",
+ "UPHENO:0086700",
+ "UBERON:0004248",
+ "HP:0011297",
+ "UPHENO:0076957",
+ "UPHENO:0001391",
+ "HP:0100790",
+ "HP:0010935",
+ "UPHENO:0075902",
+ "CL:0000015",
+ "UPHENO:0002754",
+ "UBERON:0002137",
+ "UBERON:0011143",
"UBERON:0007842",
- "UBERON:0007914",
- ],
- "has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
- "decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
- "Abnormal platelet morphology",
- "biogenic amine secreting cell",
- "Thrombocytopenia",
- "Hypopigmented skin patches",
- "serotonin secreting cell",
- "decreased number of material anatomical entity in the multicellular organism",
- "decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
- "nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
- "Abnormal immune system morphology",
- "number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
- "Abnormal leukocyte morphology",
- "homeostatic process phenotype",
- "metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "decreased size of the multicellular organism",
- "Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
- "blood cell phenotype",
- "bone cell",
- "Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
- "erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
- "Abnormal morphology of the radius",
- "radius endochondral element",
- "radius bone phenotype",
- "Abnormality of skull size",
- "cognition",
- "Scoliosis",
- "Almond-shaped palpebral fissure",
- "size of palpebral fissure phenotype",
- "decreased size of the palpebral fissure",
- "Recurrent infections",
- "immune system phenotype",
- "Recurrent urinary tract infections",
- "Abnormality of the immune system",
- "immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
- "absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
- "absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
- "absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
- "male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
- "localised anatomical structure",
- "Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
- "male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
- "urethra phenotype",
+ "UBERON:0002113",
+ "UBERON:0002544",
+ "UPHENO:0076695",
+ "UBERON:0000060",
+ "UPHENO:0087585",
+ "UBERON:0011159",
+ "UPHENO:0079872",
+ "UBERON:0000982",
+ "UPHENO:0002807",
+ "UPHENO:0076786",
+ "UBERON:0001703",
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+ "UBERON:0012240",
+ "UBERON:0001734",
+ "UBERON:0005944",
+ "UBERON:0000079",
+ "UBERON:0001716",
+ "UBERON:0000949",
+ "UBERON:0001733",
+ "UPHENO:0087806",
+ "UPHENO:0002828",
+ "UPHENO:0003095",
+ "UBERON:0034768",
+ "UBERON:0002553",
+ "HP:0010293",
+ "UBERON:0004089",
+ "UPHENO:0063514",
+ "UPHENO:0081570",
+ "UPHENO:0076781",
+ "UPHENO:0004476",
+ "UPHENO:0075843",
+ "HP:0000172",
+ "UBERON:0007375",
+ "HP:0031816",
+ "HP:0008678",
+ "HP:0012372",
+ "UBERON:0005179",
+ "HP:0010674",
+ "HP:0001217",
+ "UPHENO:0071332",
+ "UBERON:0001766",
+ "HP:0001155",
+ "UBERON:0003101",
+ "UPHENO:0080201",
+ "HP:0000553",
+ "GO:0009605",
+ "UBERON:0004088",
+ "UPHENO:0088049",
+ "UBERON:0001464",
+ "UPHENO:0005231",
+ "UPHENO:0063794",
+ "UBERON:0000063",
+ "UPHENO:0001147",
+ "UBERON:0007273",
+ "HP:0008056",
+ "GO:0005623",
+ "UBERON:0006311",
+ "UPHENO:0071334",
+ "UPHENO:0080209",
+ "UBERON:5002544",
+ "UBERON:0001769",
+ "HP:0000593",
+ "UBERON:5002389",
+ "BFO:0000040",
+ "UPHENO:0071317",
+ "HP:0034261",
+ "UPHENO:0076692",
+ "UPHENO:0046445",
+ "HP:0008053",
+ "UPHENO:0054957",
+ "UPHENO:0074575",
+ "CL:0000225",
+ "UPHENO:0054970",
+ "UBERON:0001359",
+ "UPHENO:0074584",
+ "UBERON:0000167",
+ "UBERON:0001442",
+ "HP:0001034",
+ "UPHENO:0085371",
+ "UPHENO:0076723",
+ "UBERON:0002384",
+ "UBERON:0012141",
+ "UBERON:0005451",
+ "UPHENO:0084653",
+ "HP:0005922",
+ "UBERON:0002355",
+ "HP:0006265",
+ "UPHENO:0046487",
+ "UPHENO:0049940",
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+ "HP:0000483",
+ "UPHENO:0001360",
+ "UPHENO:0003799",
+ "HP:0008373",
+ "HP:0005927",
+ "HP:0045060",
+ "UPHENO:0076760",
+ "UPHENO:0084448",
+ "GO:0007275",
+ "UPHENO:0078288",
+ "HP:0001159",
+ "UPHENO:0078179",
+ "UPHENO:0053330",
+ "UPHENO:0082834",
+ "HP:0004209",
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+ "GO:0001503",
+ "HP:0011849",
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+ "UBERON:5003625",
+ "UPHENO:0001031",
+ "HP:0011446",
+ "HP:0030084",
+ "HP:0000377",
+ "HP:0004097",
+ "HP:0001770",
+ "UPHENO:0086143",
+ "UBERON:0012357",
+ "UPHENO:0084842",
+ "HP:0009824",
+ "UPHENO:0084829",
+ "HP:0000864",
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+ "UPHENO:0046552",
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+ "UPHENO:0076804",
+ "UPHENO:0046505",
+ "HP:0001763",
+ "UPHENO:0068921",
+ "UPHENO:0087612",
+ "UPHENO:0046594",
+ "HP:0410014",
+ "UPHENO:0069292",
+ "UPHENO:0081581",
+ "UPHENO:0012274",
+ "CL:0002092",
+ "UPHENO:0046484",
+ "HP:0000568",
+ "UPHENO:0069064",
+ "UPHENO:0069125",
+ "UPHENO:0087892",
+ "UPHENO:0001001",
+ "UPHENO:0012440",
+ "UPHENO:0002987",
+ "UPHENO:0002866",
+ "UPHENO:0069030",
+ "UPHENO:0046483",
+ "UBERON:0001005",
+ "UPHENO:0046472",
+ "UBERON:0003126",
+ "UPHENO:0002967",
+ "UPHENO:0068838",
+ "UBERON:0012180",
+ "UPHENO:0063588",
+ "UPHENO:0068971",
+ "UPHENO:0046397",
+ "UPHENO:0012312",
+ "UPHENO:0002902",
+ "UPHENO:0076754",
+ "UPHENO:0069194",
+ "UPHENO:0003015",
+ "UBERON:0003828",
+ "UPHENO:0086088",
+ "UBERON:0003463",
+ "UPHENO:0066905",
+ "UBERON:0003840",
+ "HP:0000504",
+ "UPHENO:0002813",
+ "UPHENO:0046465",
+ "UPHENO:0087980",
+ "UBERON:0011595",
+ "UPHENO:0081598",
+ "UPHENO:0081608",
+ "UPHENO:0003021",
+ "HP:0001367",
+ "UBERON:0007832",
+ ],
+ "has_phenotype_closure_label": [
+ "decreased biological_process in multicellular organism",
+ "Hypopigmentation of the skin",
+ "Abnormal platelet morphology",
+ "Thrombocytopenia",
+ "Abnormal platelet count",
+ "decreased number of platelet",
+ "number of platelet phenotype",
+ "serotonin secreting cell",
+ "anucleate cell",
"Abnormality of thrombocytes",
- "urethral opening",
- "Abnormal ureter morphology",
- "Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
- "Abnormality of the urinary system physiology",
- "abdominal segment element physiology phenotype",
- "kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
- "incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
- "increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormal immune system morphology",
+ "Abnormal cellular immune system morphology",
+ "decreased number of hematopoietic cell",
+ "leukocyte",
+ "decreased number of anatomical structure in the multicellular organism",
+ "decreased number of leukocyte in the blood",
+ "decreased number of anatomical structure",
+ "Leukopenia",
+ "nucleate cell",
+ "motile cell",
+ "decreased number of anatomical entity in the blood",
+ "Abnormality of chromosome stability",
+ "Abnormal cellular physiology",
+ "decreased height of the multicellular organism",
+ "decreased size of the multicellular organism",
+ "size of multicellular organism phenotype",
+ "cellular developmental process",
+ "decreased number of anatomical entity in the multicellular organism",
+ "blood cell",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "Abnormal bone marrow cell morphology",
+ "Sideroblastic anemia",
+ "homeostatic process",
+ "immune system process",
+ "cellular process",
"erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
+ "Abnormal erythroid lineage cell morphology",
+ "cell development",
+ "Abnormal myeloid cell morphology",
+ "Anemia of inadequate production",
+ "hemopoiesis",
+ "erythroid lineage cell",
+ "homeostasis of number of cells",
+ "erythrocyte homeostasis",
+ "bone cell",
+ "aplasia or hypoplasia of radius bone",
+ "Abnormal morphology of the radius",
+ "radius bone phenotype",
+ "radius bone morphology phenotype",
+ "Neurodevelopmental delay",
+ "shape palpebral fissure",
+ "Abnormal shape of the palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "decreased size of the orifice",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the palpebral fissure",
+ "decreased length of orifice",
+ "decreased length of anatomical conduit",
+ "immune system physiology phenotype",
+ "Unusual infection",
+ "localised male reproductive organ",
+ "localised organ",
+ "Cryptorchidism",
+ "localised anatomical structure",
+ "ureter",
+ "excretory tube phenotype",
+ "Abnormal ureter morphology",
+ "Abnormality of the ureter",
+ "Hypopigmented skin patches",
+ "Abnormality of the urinary system physiology",
+ "cavitated compound organ physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "gonad physiology phenotype",
+ "decreased functionality of the gonad",
+ "decreased functionality of the reproductive structure",
+ "Cleft palate",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "Craniofacial cleft",
+ "incomplete closing of the multi-tissue structure",
+ "increased size of the structure with developmental contribution from neural crest",
+ "anatomical entity height phenotype",
+ "increased height of the anatomical structure",
+ "High palate",
+ "increased height of the material anatomical entity",
+ "increased height of the roof of mouth",
+ "increased height of the anatomical entity",
+ "immune system morphology phenotype",
+ "increased height of the multicellular anatomical structure",
+ "increased height of the ectoderm-derived structure",
+ "increased size of the neural crest-derived structure",
+ "increased height of the multi-tissue structure",
+ "number of leukocyte phenotype",
+ "increased length of the ectoderm-derived structure",
+ "increased length of the organ part",
+ "increased length of the epicanthal fold",
"Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
+ "upper eyelid",
"skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
+ "head or neck skin",
+ "skin of face",
"zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
+ "increased size of the zone of organ",
+ "skin of head",
"asymmetry of anatomical entity phenotype",
+ "Abnormal leukocyte count",
"Facial asymmetry",
"asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
+ "Sloping forehead",
"forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
+ "sloped anatomical entity",
"lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
+ "dermal bone phenotype",
+ "increased height of the structure with developmental contribution from neural crest",
+ "intramembranous bone phenotype",
+ "bone element hypoplasia in face",
+ "secretory cell",
+ "bone of lower jaw phenotype",
+ "mandible morphology phenotype",
+ "mandible",
"dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
+ "facial bone hypoplasia",
+ "bone of lower jaw",
"anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
+ "skin of eyelid",
"Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
+ "mandible hypoplasia",
+ "sensory perception of sound",
"decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
+ "sloped forehead",
"sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "Hearing abnormality",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased system process",
+ "Hearing impairment",
+ "nose phenotype",
+ "naris",
+ "olfactory organ",
+ "compound organ physiology phenotype",
"posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
"naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
+ "posterior nasal aperture",
"Abnormal conjugate eye movement",
"Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
"visual perception",
- "Abnormality of vision",
+ "sensory perception of light stimulus",
"decreased qualitatively system process",
- "visual perception phenotype",
"decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
+ "sensory perception phenotype",
+ "decreased qualitatively nervous system process",
+ "Abnormality of globe size",
+ "sensory perception of light stimulus phenotype",
"size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
+ "decreased size of the ectoderm-derived structure",
+ "internal ear physiology phenotype",
"eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
+ "vestibulo-ocular reflex phenotype",
"Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
+ "Abnormality of eye movement",
+ "multi organ part structure physiology phenotype",
+ "Abnormal vestibular function",
+ "Aplasia/Hypoplasia of facial bones",
"bicornuate uterus",
- "female reproductive organ",
+ "female organism",
+ "internal female genitalia morphology phenotype",
+ "decreased functionality of the organ",
+ "oviduct",
"uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
+ "bicornuate anatomical entity",
+ "shape uterus",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the uterus",
+ "subdivision of oviduct phenotype",
+ "internal female genitalia",
+ "Abnormal finger phalanx morphology",
+ "Triphalangeal thumb",
+ "manual digitopodium bone",
+ "digit 1",
"manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
+ "decreased sensory perception",
"manual digit bone",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
"manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
+ "ureter morphology phenotype",
+ "skeleton of manual acropodium",
+ "skeleton of manual digitopodium",
+ "Abnormality of the immune system",
+ "manual digit phalanx endochondral element",
+ "facial bone phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "manus bone",
+ "excretory tube",
+ "manual digit 1 phalanx endochondral element",
"phalanx of manus",
"manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
"neuromuscular process",
+ "kinesthetic behavior",
"voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
+ "voluntary movement behavior phenotype",
+ "system process phenotype",
+ "reflex phenotype",
+ "increased response to stimulus",
+ "Recurrent urinary tract infections",
+ "involuntary movement behavior",
"response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
+ "reflex",
+ "increased qualitatively response to stimulus",
+ "Global developmental delay",
+ "reflexive behavior",
+ "behavior phenotype",
+ "Hyperreflexia",
+ "multicellular organismal movement phenotype",
"decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
+ "decreased qualitatively multicellular organismal process",
"anatomical structure development phenotype",
- "decreased qualitatively biological_process",
+ "multicellular organismal process phenotype",
"Growth delay",
- "Intrauterine growth retardation",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
+ "delayed growth",
+ "embryo development rate phenotype",
+ "embryo development phenotype",
+ "Abnormality of vision",
+ "anatomical wall phenotype",
+ "Hernia",
"Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
+ "digit 1 digitopodial skeleton",
+ "tissue phenotype",
"herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
+ "connective tissue",
+ "erythrocyte morphology phenotype",
+ "umbilicus",
+ "abdominal wall phenotype",
"herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
+ "facial skeleton",
+ "abdominal viscera",
+ "incomplete closing of the organ part",
+ "embryo phenotype",
"organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
+ "Renal insufficiency",
"late embryo",
- "bone of jaw phenotype",
+ "Abnormality of prenatal development or birth",
+ "uterus phenotype",
"Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
+ "response to external stimulus",
+ "Abnormality of the amniotic fluid",
+ "embryonic development/birth phenotype",
"cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
+ "metabolic process",
+ "Abnormal cardiac septum morphology",
+ "interatrial septum",
"Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
+ "cardiac septum",
"increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
+ "incomplete closing of the interventricular septum",
+ "Abnormality of thumb phalanx",
"increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
+ "cardiac septum morphology phenotype",
+ "right cardiac chamber phenotype",
+ "cardiac septum phenotype",
+ "increased size of the lateral structure",
"size of cardiac ventricle phenotype",
+ "interventricular septum morphology phenotype",
+ "heart right ventricle morphology phenotype",
+ "cardiac ventricle phenotype",
"septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
+ "incomplete closing of the cardiac septum",
+ "cardiac chamber morphology in the heart phenotype",
+ "hypertrophic cardiac ventricle",
+ "cardiac chamber phenotype",
+ "septum",
+ "increased size of the cardiac chamber",
+ "incomplete closing of the septum",
+ "Intrauterine growth retardation",
"decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
"mesoderm-derived structure physiology phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "decreased nervous system process",
+ "decreased functionality of the organ component layer",
+ "Abnormality of the abdominal wall",
+ "organ component layer physiology phenotype",
+ "heart layer phenotype",
"layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
+ "Abnormal choanae morphology",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "Hypertrophic cardiomyopathy",
+ "Abnormal myocardium morphology",
+ "decreased multicellular organism development",
+ "heart layer",
+ "decreased functionality of the anatomical entity",
+ "decreased multicellular organismal process",
+ "incomplete closing of the trunk blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "systemic artery phenotype",
+ "blood vessel phenotype",
+ "nervous system process phenotype",
+ "incomplete closing of the coronary vessel",
+ "coronary vessel morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "incomplete closing of the heart blood vessel",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "aplasia or hypoplasia of mandible",
+ "trunk blood vessel",
+ "trunk blood vessel phenotype",
"vasculature of organ",
"vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
"heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "sensory perception of sound phenotype",
+ "response to stimulus",
+ "ductus arteriosus",
+ "incomplete closing of the artery",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "myeloid cell",
+ "incomplete closing of the blood vessel",
+ "anatomical entity morphology in the heart phenotype",
+ "Patent ductus arteriosus",
+ "anatomical structure morphology in the heart phenotype",
+ "hematopoietic cell",
"semi-lunar valve",
- "outflow tract of ventricle",
+ "neuromuscular process phenotype",
+ "heart",
+ "aortic valve morphology phenotype",
+ "platelet phenotype",
+ "Abnormal heart morphology",
+ "Abnormal heart valve morphology",
"semi-lunar valve morphology phenotype",
"heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
+ "internal ear",
+ "heart left ventricle",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "outflow part of left ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "cardiac valve",
+ "bone of jaw",
"aortic system",
- "aorta phenotype",
- "mandible",
+ "aortic valve",
+ "thoracic cavity blood vessel",
+ "great vessel of heart",
+ "Abnormal aortic morphology",
"aorta morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "great vessel of heart morphology phenotype",
"aorta",
- "great vessel of heart",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "longitudinal arch of pes",
+ "Pes planus",
"flat anatomical entity",
+ "flattened anatomical entity",
"shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
+ "trunk region element physiology phenotype",
+ "Toe syndactyly",
"fused anatomical entity and pedal digit",
+ "incomplete closing of the anatomical wall",
+ "pedal digit phenotype",
"anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
+ "platelet",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
"growth",
- "anatomical entity mass phenotype",
+ "radius bone",
+ "growth phenotype",
"Weight loss",
- "developmental process rate phenotype",
+ "obsolete cell",
+ "material anatomical entity mass phenotype",
+ "Decreased body weight",
"Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "anatomical structure mass phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal calvaria morphology",
+ "frontal cortex morphology phenotype",
+ "neurocranium morphology phenotype",
+ "olfactory system morphology phenotype",
+ "cranium morphology phenotype",
+ "Puberty and gonadal disorders",
+ "central nervous system cell part cluster",
+ "hypertrophic multicellular anatomical structure",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "shape of frontal cortex phenotype",
+ "primary subdivision of skull",
+ "cranium",
+ "frontal cortex",
+ "gray matter",
+ "dermal bone",
+ "aplasia or hypoplasia of skull",
+ "frontal lobe",
+ "pallium",
+ "prominent forehead",
+ "brain gray matter phenotype",
+ "forehead",
+ "tetrapod frontal bone",
"neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
+ "gray matter of forebrain phenotype",
+ "decreased number of cell",
+ "gray matter phenotype",
+ "cortex of cerebral lobe",
+ "primary subdivision of cranial skeletal system",
+ "vault of skull",
+ "cardiovascular system physiology phenotype",
+ "prominent anatomical entity",
+ "neurocranium",
+ "bone of craniocervical region",
+ "cranial bone",
+ "intramembranous bone",
+ "membrane bone",
"heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
+ "gray matter of forebrain",
"anus",
- "membrane bone",
- "zeugopodial skeleton",
+ "closing of the multicellular anatomical structure",
+ "material anatomical entity atresia",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "closing of the anatomical structure",
+ "anus morphology phenotype",
+ "bone marrow",
+ "anus atresia",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "Abnormal ileum morphology",
+ "parasympathetic nervous system",
+ "large intestine morphology phenotype",
+ "autonomic nervous system",
+ "Abnormal peripheral nervous system ganglion morphology",
+ "Abnormal autonomic nervous system morphology",
+ "ganglion of peripheral nervous system",
+ "Abnormal large intestine morphology",
+ "interatrial septum morphology phenotype",
+ "Abnormality of the autonomic nervous system",
+ "haemolymphatic fluid",
+ "ganglion morphology phenotype",
+ "enteric nervous system",
+ "Aganglionic megacolon",
+ "enteric ganglion",
+ "Megacolon",
+ "lower digestive tract",
+ "Abnormal ganglion morphology",
+ "stylopod",
+ "late embryo phenotype",
+ "valve",
+ "Abnormal femur morphology",
+ "decreased qualitatively pigmentation",
+ "increased length of the head or neck skin",
"innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
+ "hip joint morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "protruding anatomical entity",
+ "Abnormal pelvic girdle bone morphology",
+ "pelvic region of trunk",
"hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
+ "appendage girdle region",
+ "girdle skeleton",
+ "trunk bone",
+ "Lower extremity joint dislocation",
+ "Abnormal hip bone morphology",
+ "skeletal joint morphology phenotype",
+ "heart layer morphology phenotype",
+ "hip dislocation",
+ "skeletal joint phenotype",
+ "synovial joint morphology phenotype",
+ "girdle bone/zone",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "Hip dislocation",
+ "outflow part of left ventricle morphology phenotype",
+ "vertebral column",
+ "tube closure phenotype",
+ "ileum",
+ "embryonic tissue",
+ "forehead phenotype",
+ "neural tube closure",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "Vertebral arch anomaly",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "decreased pigmentation in multicellular organism",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
"anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
+ "Abnormal ear physiology",
"ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
+ "Abnormality of the vasculature",
+ "incomplete closing of the anatomical entity",
+ "postcranial axial skeleton",
+ "localised multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis",
+ "tube formation",
"eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "tissue morphogenesis",
+ "incomplete closing of the vessel",
+ "presumptive structure",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "entire sense organ system",
+ "formed organ part",
+ "bony vertebral centrum",
+ "cranial neuron projection bundle",
+ "Clubbing",
+ "head bone",
+ "shape digit",
+ "peripheral nervous system morphology phenotype",
+ "Abnormal spinal cord morphology",
+ "nerve phenotype",
+ "developmental process",
+ "increased size of the heart right ventricle",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "abdominal segment bone",
+ "Cranial nerve paralysis",
+ "increased number of multicellular anatomical structure",
+ "Spinal dysraphism",
+ "Frontal bossing",
+ "nerve",
+ "esophagus morphology phenotype",
+ "cranial nerve",
+ "internal naris atresia",
+ "musculature of body",
+ "nerve of head region",
+ "phenotype",
+ "anatomical space",
+ "pelvic appendage",
+ "body part movement",
+ "cranial nerve phenotype",
+ "artery phenotype",
+ "autopodial extension",
+ "Abnormal cranial nerve physiology",
+ "appendage girdle complex",
"Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
+ "reproductive process",
+ "kidney phenotype",
+ "limb morphology phenotype",
+ "cognition",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
"nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
+ "decreased functionality of the myocardium",
+ "limb bone phenotype",
+ "face",
+ "multicellular anatomical structure mass phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "bone of pectoral complex morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "vertebral column phenotype",
+ "Hernia of the abdominal wall",
+ "autopodial extension phenotype",
+ "Abnormal forearm bone morphology",
+ "forelimb zeugopod morphology phenotype",
+ "limb skeleton subdivision",
+ "femur",
+ "skull",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "vault of skull phenotype",
+ "epithelium development",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Abnormal peripheral nervous system morphology",
+ "arm bone phenotype",
+ "olfactory organ phenotype",
+ "multi-limb segment region phenotype",
+ "Nystagmus",
+ "esophagus",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "endochondral element phenotype",
+ "forelimb bone phenotype",
+ "bone element",
+ "decreased reproductive process",
"skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
+ "zeugopod",
+ "system development",
+ "pectoral appendage",
+ "deviation of manual digit 5 towards the middle",
+ "bony vertebral centrum morphology phenotype",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "olfactory system",
+ "Neoplasm by anatomical site",
+ "limb",
+ "increased size of the material anatomical entity",
+ "respiratory system",
+ "hip joint",
+ "Small intestinal stenosis",
+ "flat longitudinal arch of pes",
+ "neuron projection bundle phenotype",
+ "Abnormal morphology of ulna",
+ "multicellular organismal reproductive process",
+ "Abnormality of the musculoskeletal system",
+ "Microcephaly",
+ "pectoral appendage skeleton",
+ "alimentary part of gastrointestinal system phenotype",
+ "ulna endochondral element",
+ "localised gonad",
+ "paired limb/fin",
+ "incomplete closing of the skeletal element",
+ "absent sperm",
+ "subdivision of skeleton",
+ "shape of forehead phenotype",
+ "endochondral bone",
"decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
+ "Abnormal forebrain morphology",
+ "Abnormal forearm morphology",
"vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "vertebral element",
+ "pelvic region element phenotype",
+ "viscus",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "bone of free limb or fin",
+ "arch of centrum of vertebra phenotype",
+ "limb endochondral element",
+ "neural tube formation",
+ "neuron projection bundle",
+ "digestive system gland phenotype",
+ "increased length of the skin of eyelid",
+ "internal male genitalia phenotype",
"Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
+ "paired limb/fin phenotype",
+ "Abnormal internal genitalia",
+ "localised testis",
+ "decreased qualitatively sensory perception of light stimulus",
+ "forelimb morphology phenotype",
+ "Myelodysplasia",
+ "Abnormal blood vessel morphology",
+ "parasympathetic ganglion",
+ "formed ectoderm-derived structure",
+ "decreased size of the arm bone",
+ "cardiovascular system phenotype",
+ "anatomical cluster phenotype",
+ "blood",
+ "Abnormal morphology of female internal genitalia",
+ "anatomical cluster",
+ "Functional abnormality of male internal genitalia",
+ "acropodium region",
+ "coronary vessel",
+ "cranial nerve physiology phenotype",
+ "ventricle of nervous system",
+ "paralysed anatomical entity",
+ "multi-limb segment region",
+ "blood vessel",
+ "compound organ",
+ "eye",
+ "venous system",
+ "outflow tract",
+ "germ cell",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "upper urinary tract phenotype",
+ "Abnormal jaw morphology",
+ "Meckel diverticulum",
+ "irregular bone",
+ "organism",
+ "secondary palate",
+ "male reproductive organ morphology phenotype",
+ "skeleton of digitopodium",
+ "myeloid cell homeostasis",
+ "glans penis",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "Abnormal preputium morphology",
+ "penis morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "mouth phenotype",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
"cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
+ "leg bone",
+ "Abnormal skin morphology",
+ "multi-tissue structure phenotype",
"opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
+ "decreased anatomical structure mass",
+ "forelimb zeugopod bone phenotype",
+ "pigmentation",
+ "developing anatomical structure",
+ "skeleton of limb",
+ "Abnormality of skin pigmentation",
+ "female reproductive system",
+ "dermal skeleton",
+ "phenotypic effect",
+ "aplasia or hypoplasia of iris",
+ "pigmentation phenotype",
+ "heart left ventricle morphology phenotype",
"individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
+ "Umbilical hernia",
+ "Arteriovenous malformation",
+ "increased size of the multi-tissue structure",
+ "head bone morphology phenotype",
+ "Abnormal eye morphology",
+ "incomplete closing of the secondary palate",
+ "increased length of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "integument",
+ "Abnormal connection of the cardiac segments",
+ "leg phenotype",
+ "cardiac atrium",
+ "Abnormality of the integument",
+ "genitourinary system phenotype",
+ "Abnormality of the forehead",
"mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
+ "multicellular organismal process",
+ "bone of pelvic complex",
+ "system process",
+ "sensory perception",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "process",
+ "Abnormal shape of the frontal region",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "autopod endochondral element",
"shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
+ "mandible phenotype",
+ "autonomic ganglion",
+ "axial skeletal system",
+ "brain",
+ "ventricular system of central nervous system",
+ "neural crest-derived structure, curved phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "musculature phenotype",
+ "reproductive system physiology phenotype",
+ "myeloid cell differentiation",
+ "increased number of organ part",
+ "decreased biological_process in skin of body",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "decreased length of forelimb zeugopod bone",
+ "digit 1 plus metapodial segment",
+ "Abnormality of the anus",
+ "cerebrospinal fluid morphology phenotype",
+ "synovial joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "facial bone",
+ "increased number of brain ventricle",
+ "Recurrent infections",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "size of heart right ventricle phenotype",
+ "Abnormality of the urinary system",
+ "incomplete closing of the neural crest-derived structure",
+ "Abnormal cerebrospinal fluid morphology",
+ "external soft tissue zone",
+ "Abnormal mandible morphology",
+ "skeletal system phenotype",
+ "male gamete generation phenotype",
"digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
+ "head",
+ "internal genitalia phenotype",
"bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
+ "Abnormal esophagus morphology",
+ "increased number of anatomical structure in the cerebrospinal fluid",
"organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
+ "multicellular organismal-level homeostasis",
+ "chordate embryonic development",
+ "anterior segment of eyeball",
+ "Abnormal morphology of the great vessels",
+ "pectoral complex",
+ "Abnormality of the peripheral nervous system",
+ "trunk region element",
+ "endoderm-derived structure",
+ "lateral structure",
+ "Orofacial cleft",
+ "digestive system element",
+ "Abnormal digestive system morphology",
+ "Tracheoesophageal fistula",
+ "spinal cord morphology phenotype",
+ "Abnormal cardiac atrium morphology",
+ "Neoplasm",
+ "Abnormal intestine morphology",
+ "nervous system process",
+ "limb bone morphology phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "Abnormal gastrointestinal tract morphology",
+ "embryonic morphogenesis",
+ "phalanx of pes morphology phenotype",
+ "body proper",
+ "opening of the anatomical entity",
+ "cell phenotype",
"tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
+ "subdivision of organism along main body axis phenotype",
+ "tunica fibrosa of eyeball",
+ "anatomical structure physiology phenotype",
"mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
+ "appendage",
+ "Abnormal facial shape",
+ "location of anatomical entity phenotype",
+ "tube morphogenesis",
+ "camera-type eye morphology phenotype",
+ "brain gray matter",
+ "embryo development",
+ "Abnormal tracheobronchial morphology",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "size of brain ventricle phenotype",
+ "limb phenotype",
+ "Abnormal anterior eye segment morphology",
+ "organ subunit",
+ "absent sperm in the semen",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "connective tissue phenotype",
"increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
+ "digestive tract",
+ "face morphology phenotype",
+ "Abnormal external genitalia",
+ "arm phenotype",
+ "digestive system phenotype",
+ "Abnormal respiratory system physiology",
+ "reproductive structure physiology phenotype",
+ "Short stature",
+ "Abnormality of the vertebral column",
+ "reproductive organ physiology phenotype",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "male reproductive organ",
+ "sensory perception of mechanical stimulus phenotype",
+ "internal naris phenotype",
+ "disconnected anatomical group",
+ "cerebral cortex",
+ "tracheobronchial tree",
+ "decreased size of the forelimb bone",
+ "tube development",
+ "multicellular anatomical structure phenotype",
+ "Abnormal toe morphology",
+ "Anemia",
+ "morphological feature",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Abnormality of the urethra",
+ "immaterial entity",
+ "Abnormal systemic arterial morphology",
+ "renal system",
"peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
+ "Abnormal anterior chamber morphology",
+ "zeugopodial skeleton",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "immune system",
+ "endocrine system",
+ "sense organ physiology phenotype",
+ "ear physiology phenotype",
+ "uterus morphology phenotype",
+ "Abnormal neural tube morphology",
+ "Abnormal enteric ganglion morphology",
+ "excretory system",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "male reproductive system",
+ "forelimb endochondral element",
+ "physiologic nystagmus",
+ "hemolymphoid system",
+ "organ subunit phenotype",
+ "respiratory tract",
+ "amniotic fluid phenotype",
+ "respiratory tube",
+ "glans",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "developmental process phenotype",
+ "limb endochondral element phenotype",
+ "blood vasculature",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "increased reflex",
+ "long bone",
+ "material entity",
"cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
+ "number of sperm phenotype",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Slanting of the palpebral fissure",
+ "decreased length of limb bone",
+ "structure with developmental contribution from neural crest",
+ "intromittent organ phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "pelvic girdle bone/zone morphology phenotype",
+ "Neural tube defect",
+ "prepuce",
+ "decreased male gamete generation",
+ "organ system subdivision",
+ "Syndactyly",
+ "skeletal system morphology phenotype",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
"Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
+ "independent continuant",
+ "anatomical line between pupils",
+ "reproductive system",
+ "thoracic cavity element",
+ "skeleton",
+ "multicellular organism",
+ "Abnormality of the orbital region",
+ "decreased size of the limb endochondral element",
"roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
- "Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
+ "neural tube development",
+ "external genitalia",
+ "camera-type eye",
+ "decreased number of myeloid cell",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "forelimb zeugopod bone",
"head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "penis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "Abnormal form of the vertebral bodies",
+ "upper urinary tract",
+ "right cardiac chamber",
+ "manual digitopodium region",
+ "gray matter of telencephalon",
+ "urethral meatus",
+ "dorsal region element",
+ "Abnormality of the cardiovascular system",
+ "central nervous system gray matter layer",
+ "pedal digit bone",
+ "increased length of the non-material anatomical boundary",
+ "chamber of eyeball",
+ "Clinodactyly",
+ "palatine uvula",
+ "reproductive structure phenotype",
+ "quality",
"central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
+ "anatomical collection phenotype",
+ "Abnormal toe phalanx morphology",
"arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "increased length of the skin of face",
+ "decreased size of the limb bone",
+ "central nervous system morphology phenotype",
+ "shape of external ear phenotype",
+ "anatomical conduit phenotype",
+ "skeleton of lower jaw",
+ "common carotid artery plus branches morphology phenotype",
+ "eyelid",
"endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
+ "Abnormality of the ear",
+ "decreased qualitatively developmental process involved in reproduction",
+ "Abnormal male urethral meatus morphology",
+ "reproductive structure",
+ "epithelial tube",
+ "decreased height of the anatomical entity",
+ "decreased developmental process involved in reproduction",
+ "Abnormality of the eye",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "anatomical system",
"upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
+ "sense organ phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "Abnormality of reproductive system physiology",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "pedal digit phalanx endochondral element",
+ "organ",
+ "pedal digit plus metapodial segment",
+ "Phenotypic abnormality",
+ "multicellular anatomical structure physiology phenotype",
+ "increased number of organ component layer",
+ "nervous system",
+ "anatomical projection phenotype",
+ "anatomical system physiology phenotype",
+ "Displacement of the urethral meatus",
+ "organ part physiology phenotype",
+ "skin of body morphology phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "Abnormality of immune system physiology",
+ "localised anatomical entity",
+ "organ system subdivision phenotype",
"simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
+ "homeostatic process phenotype",
+ "behavior",
+ "abdomen element",
+ "protruding eyeball of camera-type eye",
+ "embryonic epithelial tube formation",
+ "respiratory airway",
+ "subdivision of trunk",
+ "multicellular organismal movement",
+ "fused anatomical entity and anatomical entity",
"neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
+ "male urethra",
+ "organ part",
+ "Decreased bone element mass density",
+ "material anatomical entity phenotype",
+ "Short palpebral fissure",
+ "umbilicus morphology phenotype",
+ "Abnormal skeletal morphology",
+ "increased pigmentation",
+ "Abnormality of the genital system",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "Abnormal ventriculoarterial connection",
"alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
+ "shape of continuant phenotype",
+ "deviation of digit towards the middle",
+ "lower urinary tract",
"Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
- "pes bone",
- "neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere",
- ],
- },
- {
- "id": "MONDO:0013248",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group O",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
- "synonym": [
- "FANCO",
- "Fanconi Anemia, complementation group type O",
- "Fanconi anaemia caused by mutation in RAD51C",
- "Fanconi anaemia caused by mutation in Rad51C",
- "Fanconi anaemia complementation group type O",
- "Fanconi anemia caused by mutation in RAD51C",
- "Fanconi anemia caused by mutation in Rad51C",
- "Fanconi anemia complementation group type O",
- "Fanconi anemia, complementation group O",
- "RAD51C Fanconi anaemia",
- "RAD51C Fanconi anemia",
- "Rad51C Fanconi anaemia",
- "Rad51C Fanconi anemia",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0000126",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0009623",
- "HP:0009777",
- "HP:0001627",
- "HP:0000107",
- "HP:0040012",
- "HP:0003241",
- "HP:0004322",
- "HP:0001245",
- "HP:0002023",
- "HP:0003774",
- "HP:0025023",
- ],
- "has_phenotype_label": [
- "Hydronephrosis",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Proximal placement of thumb",
- "Absent thumb",
- "Abnormal heart morphology",
- "Renal cyst",
- "Chromosome breakage",
- "External genital hypoplasia",
- "Short stature",
- "Small thenar eminence",
+ "jaw region",
+ "artery",
+ "telencephalon phenotype",
+ "curved anatomical entity",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "subdivision of organism along appendicular axis",
+ "decreased length of endochondral element",
+ "Abnormal cell morphology",
+ "Abnormal palate morphology",
+ "articulation",
+ "cornea, curved phenotype",
+ "mesoderm-derived structure",
+ "autopod bone",
+ "system",
+ "anatomical structure, curved phenotype",
+ "brain morphology phenotype",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "musculoskeletal movement phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "transparent eye structure",
+ "dentary",
+ "behavior process phenotype",
+ "femur endochondral element",
+ "organ component layer phenotype",
+ "subdivision of tube",
+ "Abnormality of the inner ear",
+ "vertebra morphology phenotype",
+ "Decreased fertility in males",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "subdivision of oviduct",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "cerebral cortex morphology phenotype",
+ "urethra phenotype",
+ "Abnormality of the lower urinary tract",
+ "Hypogonadism",
+ "urethral opening",
+ "arm bone",
+ "skeleton of pectoral complex",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "increased size of the zone of skin",
+ "cornea phenotype",
+ "formed chamber of eyeball",
+ "Decreased head circumference",
+ "anatomical entity",
+ "localised material anatomical entity",
+ "ear phenotype",
+ "musculoskeletal movement",
+ "decreased qualitatively biological_process",
+ "increased volume of anatomical entity",
+ "forelimb bone",
+ "Abnormal uvula morphology",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "Intellectual disability",
+ "embryonic structure",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "proximo-distal subdivision of respiratory tract",
+ "Abnormal penis morphology",
+ "appendage phenotype",
+ "Hypoplastic facial bones",
+ "organism subdivision phenotype",
+ "arm",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "ocular surface region",
+ "thoracic segment of trunk",
+ "bone of jaw phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "tetrapod frontal bone morphology phenotype",
+ "pes bone",
+ "renal pelvis/ureter",
+ "male urethral meatus",
+ "primary neural tube formation",
+ "Abnormality of the respiratory system",
+ "segment of autopod",
+ "ductus arteriosus morphology phenotype",
+ "increased pigmentation in skin of body",
+ "cranial neuron projection bundle phenotype",
+ "Abnormal male reproductive system physiology",
+ "reproductive organ",
+ "Abnormality of the digestive system",
+ "anatomical structure development",
+ "arterial blood vessel",
+ "decreased spermatogenesis",
+ "limb segment",
+ "external genitalia phenotype",
+ "nervous system cell part layer",
+ "aplasia or hypoplasia of uvea",
+ "size of palpebral fissure phenotype",
+ "vestibulo-ocular reflex",
+ "neocortex",
+ "Abnormality of refraction",
+ "digit 5",
+ "Abnormal curvature of the vertebral column",
+ "multi cell part structure phenotype",
+ "ureter phenotype",
+ "hematopoietic system",
+ "multicellular anatomical structure",
+ "reproductive system phenotype",
+ "hindlimb endochondral element",
+ "ventricular system of brain",
+ "innominate bone morphology phenotype",
+ "eye phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal vertebral morphology",
+ "Abnormal male external genitalia morphology",
+ "localised reproductive organ",
+ "glandular system",
+ "myocardium",
+ "external ear",
+ "decreased length of bone of appendage girdle complex",
+ "bone of appendage girdle complex",
+ "anatomical wall",
+ "closing of the material anatomical entity",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "sensory system",
+ "Scoliosis",
+ "multicellular anatomical structure, curved phenotype",
+ "Almond-shaped palpebral fissure",
+ "response to stimulus phenotype",
+ "Abdominal wall defect",
+ "material anatomical entity physiology phenotype",
+ "Abnormal involuntary eye movements",
+ "Abnormal tracheal morphology",
+ "cerebrospinal fluid",
+ "main body axis",
+ "tissue development",
+ "venous blood vessel",
+ "camera-type eye phenotype",
+ "physiologic nystagmus phenotype",
+ "increased size of the immaterial anatomical entity",
+ "manus",
+ "chemosensory system",
+ "organ physiology phenotype",
+ "Microphthalmia",
+ "absent anatomical entity in the multicellular organism",
+ "renal system phenotype",
+ "bone marrow cell",
+ "multicellular organism phenotype",
+ "upper limb segment",
+ "biological_process",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "camera-type eye physiology phenotype",
+ "blood vessel morphology phenotype",
+ "zone of skin morphology phenotype",
+ "ganglion",
+ "subdivision of head phenotype",
+ "Abnormality of the curvature of the cornea",
+ "cell",
+ "Abnormality of the mouth",
+ "Finger syndactyly",
+ "lower respiratory tract",
+ "visual system",
+ "uvea morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal system physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "Hypermelanotic macule",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "zone of organ phenotype",
+ "trachea",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Abnormal respiratory system morphology",
+ "Multiple cafe-au-lait spots",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal lens morphology",
+ "simple eye physiology phenotype",
"Anal atresia",
- "Stage 5 chronic kidney disease",
- "Rectal atresia",
- ],
- "has_phenotype_count": 15,
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0012361",
- "UPHENO:0084771",
- "NCBITaxon:2759",
- "HP:0025023",
- "HP:0002242",
- "UPHENO:0074330",
- "UPHENO:0004518",
- "UBERON:0004907",
- "UBERON:0006866",
- "UBERON:0001052",
- "UPHENO:0063563",
- "HP:0002034",
- "HP:0011024",
- "UPHENO:0002988",
- "UPHENO:0063632",
- "HP:0002250",
- "UBERON:0001353",
- "NCBITaxon:131567",
- "UPHENO:0063629",
- "UPHENO:0002902",
- "UPHENO:0002994",
- "UPHENO:0074335",
- "UBERON:0000481",
- "UPHENO:0076735",
- "UPHENO:0076773",
- "NCBITaxon:33154",
- "UPHENO:0063575",
- "UPHENO:0005046",
- "NCBITaxon:1",
- "HP:0011100",
- "UPHENO:0063615",
- "UPHENO:0002426",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002386",
- "HP:0002589",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
- "HP:0000083",
- "UBERON:0000059",
- "UPHENO:0002442",
- "HP:0012622",
- "UPHENO:0002267",
- "HP:0012211",
- "HP:0025033",
- "UPHENO:0002839",
- "UPHENO:0063594",
- "UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "HP:0002023",
- "UPHENO:0063599",
- "UPHENO:0002548",
- "UPHENO:0074230",
- "UBERON:0001555",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0074245",
- "HP:0025031",
- "UPHENO:0002812",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0002655",
- "HP:0001245",
- "HP:0003011",
- "UBERON:0007269",
- "UBERON:0034929",
- "HP:0001446",
- "UPHENO:0003057",
- "HP:0009127",
- "UPHENO:0081341",
- "UPHENO:0003047",
- "HP:0001421",
- "UPHENO:0002647",
- "UBERON:0014793",
- "UBERON:0007271",
- "HP:0002818",
- "UPHENO:0002944",
- "UPHENO:0002832",
- "UPHENO:0046483",
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- "HP:0045060",
- "UPHENO:0012308",
- "HP:0006501",
- "UPHENO:0068898",
- "UPHENO:0001360",
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- ],
- "has_phenotype_closure_label": [
- "Intestinal atresia",
- "Anorectal anomaly",
- "alimentary part of gastrointestinal system",
- "cellular organisms",
- "Rectal atresia",
- "closing of the subdivision of digestive tract",
- "Eumetazoa",
- "closing of the anatomical system",
- "Abnormality of the gastrointestinal tract",
- "intestine phenotype",
- "anal region",
- "alimentary part of gastrointestinal system atresia",
- "Metazoa",
- "internal anal region",
- "organism",
- "digestive system element phenotype",
- "rectum phenotype",
- "Abnormal large intestine morphology",
- "large intestine",
- "Opisthokonta",
- "Abnormal gastrointestinal tract morphology",
- "subdivision of digestive tract phenotype",
- "lower digestive tract",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "terminal part of digestive tract",
- "rectum",
- "multi-tissue structure",
- "rectum morphology phenotype",
- "alimentary part of gastrointestinal system phenotype",
- "intestine morphology phenotype",
- "organ physiology phenotype",
- "material anatomical entity physiology phenotype",
- "abdominal segment element physiology phenotype",
- "trunk region element physiology phenotype",
- "kidney physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "lateral structure physiology phenotype",
- "renal system physiology phenotype",
- "compound organ physiology phenotype",
- "tube",
- "digestive system",
- "closing of the multicellular anatomical structure",
- "digestive system morphology phenotype",
- "Abnormality of the digestive system",
- "ectoderm-derived structure",
- "Gastrointestinal atresia",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus atresia",
- "anus morphology phenotype",
- "Abnormality of the anus",
- "ectoderm-derived structure atresia",
- "closing of the anatomical conduit",
- "orifice atresia",
- "material anatomical entity atresia",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "tube phenotype",
- "muscle structure",
- "pectoral appendage musculature phenotype",
- "Abnormality of the musculature",
- "Abnormality of the musculature of the limbs",
- "thenar eminence hypoplasia",
- "Small thenar eminence",
- "Abnormal skeletal muscle morphology",
- "Abnormality of the musculature of the hand",
- "thenar eminence",
- "muscle structure phenotype",
- "intestine atresia",
- "skeleton phenotype",
- "absent anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "obsolete cell",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "decreased length of skeletal element",
- "long bone phenotype",
- "testis",
- "forelimb skeleton phenotype",
- "palmar part of manus",
- "Abnormal anus morphology",
- "musculature of pectoral complex phenotype",
- "zeugopod phenotype",
- "absent anatomical structure",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "anatomical system atresia",
- "biological regulation",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "long bone morphology phenotype",
- "zeugopod",
- "musculoskeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "zeugopodial skeleton",
- "decreased size of the multicellular anatomical structure",
- "radius endochondral element",
- "long bone",
- "limb",
- "manual digit phenotype",
- "subdivision of skeleton",
- "limb long bone",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "Abnormality of chromosome stability",
- "radius bone morphology phenotype",
- "paired limb/fin phenotype",
- "Deviation of the hand or of fingers of the hand",
- "musculature of manus phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "musculature of upper limb phenotype",
- "large intestine morphology phenotype",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "Limb undergrowth",
- "pectoral appendage skeleton",
- "digestive tract",
- "skeleton of limb",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "regulation of macromolecule metabolic process",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "decreased size of the bone of pectoral complex",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "limb phenotype",
- "Abnormal skeletal morphology",
- "Chronic kidney disease",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb segment phenotype",
- "upper limb segment",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "arm bone phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "dilated anatomical entity",
- "process",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "skeletal system morphology phenotype",
- "pectoral complex",
- "forelimb long bone phenotype",
- "Chromosome breakage",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical entity length phenotype",
- "male reproductive system",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "agenesis of anatomical entity",
- "thoracic cavity element phenotype",
- "musculoskeletal system",
- "limb segment",
- "arm",
- "skeleton of limb phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "endochondral bone",
- "decreased size of the bone element",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased length of bone of pectoral complex",
- "subdivision of tube",
- "Fetal pyelectasis",
- "decreased size of the material anatomical entity",
- "skeletal element",
- "appendage girdle complex",
- "paired limb/fin skeleton phenotype",
- "cavitated compound organ phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "organ part",
- "endochondral bone phenotype",
- "anatomical cluster",
- "Short long bone",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "increased size of the renal pelvis",
- "increased size of the anatomical conduit",
- "decreased size of the organism subdivision",
- "negative regulation of macromolecule metabolic process phenotype",
- "increased size of the anatomical entity",
- "Renal insufficiency",
- "bone element phenotype",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "increased size of the anatomical structure",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "cavitated compound organ",
- "abdomen element phenotype",
- "location of anatomical entity phenotype",
- "taxon specific phenotype",
- "forelimb zeugopod bone",
- "renal pelvis morphology phenotype",
- "forelimb phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "Abnormal testis morphology",
- "viscus",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "negative regulation of gene expression phenotype",
- "organism subdivision phenotype",
- "palmar part of manus phenotype",
- "material anatomical entity",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "body proper",
- "late embryo",
- "size of anatomical entity phenotype",
- "trunk",
- "organ part phenotype",
- "Fetal anomaly",
- "abdominal segment of trunk",
- "subdivision of organism along main body axis",
- "negative regulation of metabolic process",
- "material entity",
- "Abnormal renal pelvis morphology",
- "increased size of the material anatomical entity",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "anatomical structure",
- "Abnormality of the urinary system",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "localised male reproductive organ",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "decreased size of the arm bone",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "forelimb zeugopod bone hypoplasia",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "musculature of body phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "absent organism subdivision",
- "absent autopodial extension",
- "negative regulation of biosynthetic process",
- "decreased size of the forelimb bone",
- "main body axis",
- "organism subdivision",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "homeostatic process phenotype",
- "anatomical collection",
- "increased size of the organ part",
- "renal system phenotype",
- "anatomical cluster phenotype",
- "decreased size of the skeletal element",
- "multicellular organism",
- "lateral structure",
- "negative regulation of cellular process",
- "decreased size of the forelimb endochondral element",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "Abnormality of the upper limb",
- "Abnormal finger morphology",
- "genitourinary system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
- "increased size of the multicellular anatomical structure",
- "decreased length of manual digit 1 or 5",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "closing of the anatomical structure",
- "phenotypic effect",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Short finger",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "thoracic segment of trunk",
- "subdivision of tube phenotype",
- "All",
- "Abnormal morphology of the radius",
- "Abnormality of the kidney",
- "specifically dependent continuant",
- "digestive system element",
- "external genitalia",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "cardiovascular system",
- "size of multicellular organism phenotype",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Deviation of finger",
- "kidney",
- "reproductive organ phenotype",
- "organ phenotype",
- "skeleton",
- "abdominal segment element phenotype",
- "Abnormal fetal morphology",
- "Abnormal rectum morphology",
- "subdivision of trunk phenotype",
- "Abnormal cellular physiology",
- "organ",
- "Fetal ultrasound soft marker",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "Upper limb undergrowth",
- "quality",
- "embryo phenotype",
- "aplastic anatomical entity",
- "muscle organ",
- "genitourinary system",
- "trunk region element",
- "renal pelvis",
- "paired limb/fin segment phenotype",
- "compound organ",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "embryonic development/birth phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "reproductive system",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Dilatation of the renal pelvis",
- "renal pelvis phenotype",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "skeleton of pectoral complex",
- "decreased length of endochondral bone",
- "Abnormality of the urinary system physiology",
- "trunk phenotype",
- "dilated renal pelvis",
- "male organism phenotype",
- "appendicular skeleton",
- "Abnormal forearm bone morphology",
- "renal system",
- "decreased length of bone of free limb or fin",
- "manual digit 1 morphology phenotype",
- "Hypoplasia of the radius",
- "limb bone",
- "multicellular anatomical structure",
- "cavitated compound organ physiology phenotype",
- "decreased length of anatomical entity",
- "embryo",
- "decreased size of the limb bone",
- "gonad phenotype",
- "decreased size of the digit",
- "compound organ phenotype",
- "musculature of pectoral complex",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "palmar/plantar part of autopod",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "bone of pectoral complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "musculature of body",
- "musculature",
- "absent manual digit",
- "anatomical structure atresia",
- "skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "radius bone hypoplasia",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "heart phenotype",
- "bone of pectoral complex phenotype",
- "Abnormal fetal genitourinary system morphology",
- "musculature of upper limb",
- "anatomical collection phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "localised reproductive organ",
- "muscle organ morphology phenotype",
- "anatomical entity height phenotype",
- "reproductive structure",
- "closing of the organ part",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "decreased length of organism subdivision",
- "large intestine phenotype",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormal intestine morphology",
- "thenar eminence phenotype",
- "external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "Abnormality of the cardiovascular system",
- "deviation of manual digit",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "Abnormality of prenatal development or birth",
- "localised testis",
- "root",
- "external genitalia phenotype",
- "localised gonad",
- "localised anatomical entity",
- "regulation of macromolecule biosynthetic process phenotype",
- "Hydronephrosis",
- "Proximal placement of thumb",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "anus",
- "renal pelvis/ureter",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "Abnormal forearm morphology",
- "regulation of cellular process",
- "manus morphology phenotype",
- "digit phenotype",
- "Stage 5 chronic kidney disease",
- "anus phenotype",
- "autopodial extension phenotype",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "decreased length of material anatomical entity",
- "pectoral appendage musculature",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "organ system subdivision phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "segment of autopod",
- "viscus phenotype",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "decreased length of digit 1",
- "regulation of cellular biosynthetic process",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "decreased length of limb endochondral element",
- "deviation of anatomical entity",
- "rectum atresia",
- "manus",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "decreased size of the multicellular organism",
- "Short digit",
- "autopod region morphology phenotype",
- "Short thumb",
- "Abnormality of the hand",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "negative regulation of macromolecule metabolic process",
- "musculature of limb",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "Deviation of the thumb",
- "deviation of manual digit 1",
- "decreased size of the manual digit",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "absent digit",
- "absent anatomical structure in the limb",
- "structure with developmental contribution from neural crest",
- "Abnormal heart morphology",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased height of the multicellular organism",
- "circulatory organ",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "thoracic cavity element",
- "anatomical entity",
- "localised organ",
- "primary circulatory organ",
- "heart plus pericardium",
- "primary circulatory organ phenotype",
- "Absent thumb",
- "late embryo phenotype",
- "cardiovascular system morphology phenotype",
- "cardiovascular system phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "subdivision of tube atresia",
- "circulatory system",
- "Abnormality of the genital system",
- "thoracic segment organ phenotype",
- "biological_process",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "Renal cyst",
- "pathological phenotype observation",
- "negative regulation of cellular biosynthetic process",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "biological regulation phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "Abnormal renal morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "Short forearm",
- "testis phenotype",
- "growth phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "homeostatic process",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "negative regulation of gene expression",
- "cell phenotype",
- "regulation of cellular process phenotype",
- "Abnormal cellular phenotype",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "manual digit",
- "regulation of biological process",
- "negative regulation of biological process phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "External genital hypoplasia",
- "Growth delay",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "Aplasia/hypoplasia involving bones of the extremities",
- "forelimb zeugopod phenotype",
- "Abnormality of body height",
- "regulation of gene expression phenotype",
- "delayed biological_process",
- "excretory system",
- "paired limb/fin segment",
- "multicellular organism height phenotype",
- "musculature of limb phenotype",
- "radius bone",
- "Short stature",
- "Abnormality of the thenar eminence",
- "muscle organ phenotype",
- "external soft tissue zone",
- "Abnormality of the musculature of the upper limbs",
- "appendage musculature",
- "appendage musculature phenotype",
- "external soft tissue zone phenotype",
- "anatomical structure physiology phenotype",
- "musculature of manus",
- ],
- },
- {
- "id": "MONDO:0013499",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group P",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"],
- "synonym": [
- "FANCP",
- "Fanconi Anemia, complementation group type P",
- "Fanconi anaemia caused by mutation in SLX4",
- "Fanconi anaemia caused by mutation in Slx4",
- "Fanconi anaemia complementation group type P",
- "Fanconi anemia caused by mutation in SLX4",
- "Fanconi anemia caused by mutation in Slx4",
- "Fanconi anemia complementation group type P",
- "Fanconi anemia, complementation group P",
- "SLX4 Fanconi anaemia",
- "SLX4 Fanconi anemia",
- "Slx4 Fanconi anaemia",
- "Slx4 Fanconi anemia",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001876",
- "HP:0000347",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0001510",
- "HP:0000125",
- "HP:0009777",
- "HP:0000414",
- "HP:0000957",
- "HP:0001903",
- "HP:0012745",
- "HP:0000085",
- "HP:0000581",
- "HP:0003221",
- "HP:0002860",
- "HP:0004322",
- "HP:0000365",
- "HP:0000252",
- "HP:0001045",
- ],
- "has_phenotype_label": [
- "Pancytopenia",
- "Micrognathia",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Growth delay",
- "Pelvic kidney",
- "Absent thumb",
- "Bulbous nose",
- "Cafe-au-lait spot",
- "Anemia",
- "Short palpebral fissure",
- "Horseshoe kidney",
- "Blepharophimosis",
- "Chromosomal breakage induced by crosslinking agents",
- "Squamous cell carcinoma",
- "Short stature",
- "Hearing impairment",
- "Microcephaly",
- "Vitiligo",
- ],
- "has_phenotype_count": 20,
- "has_phenotype_closure": [
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- ],
- "has_phenotype_closure_label": [
- "Vitiligo",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "multi-tissue structure",
- "central nervous system phenotype",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "anatomical structure physiology phenotype",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "organ physiology phenotype",
- "ear physiology phenotype",
- "material anatomical entity physiology phenotype",
- "structure with developmental contribution from neural crest physiology phenotype",
- "Microcephaly",
- "sensory perception phenotype",
- "Hearing abnormality",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "decreased biological_process",
- "sensory perception",
- "Abnormality of the ear",
- "nervous system process",
- "decreased sensory perception",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Neoplasm",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "negative regulation of metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "negative regulation of gene expression phenotype",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "Abnormality of the nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Blepharophimosis",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "Abnormal size of the palpebral fissures",
- "decreased length of ectoderm-derived structure",
- "visual system",
- "camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "multi organ part structure phenotype",
- "eye",
- "orbital region",
- "palpebral fissure phenotype",
- "orbital region phenotype",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eye phenotype",
- "system process",
- "simple eye",
- "eyelid",
- "homeostatic process phenotype",
- "palpebral fissure",
- "decreased size of the orifice",
- "orifice phenotype",
- "multi organ part structure",
- "decreased size of the anatomical conduit",
- "visual system phenotype",
- "size of palpebral fissure phenotype",
- "Abnormality of the orbital region",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "Irregular hyperpigmentation",
- "eyelid morphology phenotype",
- "integumental system",
- "multicellular organismal process",
- "increased biological_process in skin of body",
- "Localized skin lesion",
- "ear phenotype",
- "increased pigmentation",
- "Cafe-au-lait spot",
- "increased biological_process",
- "pigmentation",
- "Hypermelanotic macule",
- "skin of body phenotype",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "increased size of the sense organ",
- "olfactory organ phenotype",
- "sense organ phenotype",
- "anatomical point phenotype",
- "shape kidney",
- "increased size of the nose",
- "sense organ",
- "entire sense organ system",
- "immaterial entity",
- "increased size of the multicellular anatomical structure",
- "programmed DNA elimination by chromosome breakage",
- "Macule",
- "anatomical point",
- "increased size of the material anatomical entity",
- "pigmentation phenotype",
- "increased size of the ectoderm-derived structure",
- "Abnormal external nose morphology",
- "increased volume of nose",
- "olfactory organ",
- "Bulbous nose",
- "sensory system",
- "increased size of the anatomical entity",
- "Abnormal nasal tip morphology",
- "external soft tissue zone phenotype",
- "increased size of the anatomical structure",
- "ocular adnexa",
- "Abnormality of the nose",
- "increased size of the organism subdivision",
- "external nose",
- "nose",
- "external soft tissue zone",
- "Abnormal nasal morphology",
- "absent anatomical structure in the limb",
- "absent material anatomical entity in the limb",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "external nose phenotype",
- "absent manual digit",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "absent anatomical entity in the limb",
- "absent multicellular anatomical structure",
- "aplastic manual digit 1",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "absent material anatomical entity",
- "trunk phenotype",
- "renal system morphology phenotype",
- "trunk region element",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "paired limb/fin",
- "material anatomical entity phenotype",
- "cell",
- "limb bone phenotype",
- "skeleton phenotype",
- "Abnormality of the head",
- "Abnormality of chromosome stability",
- "facial bone phenotype",
- "decreased number of anatomical entity",
- "lateral structure phenotype",
- "skeleton of limb phenotype",
- "arm",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "tube",
- "autopodial extension phenotype",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "skeleton",
- "organ phenotype",
- "mandible phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "decreased size of the bone element",
- "endochondral bone",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "primary subdivision of skull phenotype",
- "nose morphology phenotype",
- "decreased length of endochondral bone",
- "neural crest-derived structure",
- "jaw region",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "digestive system morphology phenotype",
- "organ part phenotype",
- "digestive system element phenotype",
- "increased volume of anatomical entity",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "root",
- "nose phenotype",
- "external genitalia phenotype",
- "increased size of the organ",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "structure with developmental contribution from neural crest",
- "Abnormal forebrain morphology",
- "membrane bone phenotype",
- "Abnormal jaw morphology",
- "Abnormality of the palpebral fissures",
- "Abnormal digestive system morphology",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "nose tip morphology phenotype",
- "Abnormal skull morphology",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "limb morphology phenotype",
- "aplastic anatomical entity",
- "Abnormal oral morphology",
- "genitourinary system",
- "negative regulation of cellular process",
- "jaw skeleton morphology phenotype",
- "body proper",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "organism subdivision phenotype",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "forelimb morphology phenotype",
- "subdivision of tube",
- "face",
- "dermal skeleton phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "dermal bone",
- "skeleton of lower jaw",
- "facial bone",
- "bone of lower jaw phenotype",
- "multicellular organism",
- "eukaryotic cell",
- "anatomical collection",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "head bone phenotype",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "subdivision of digestive tract phenotype",
- "craniofacial/craniocervical phenotype",
- "bone of craniocervical region",
- "intramembranous bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "regulation of gene expression",
- "subdivision of digestive tract",
- "dermal skeleton",
- "cell phenotype",
- "axial skeleton plus cranial skeleton",
- "localised reproductive organ",
- "bone element hypoplasia in face",
- "autopod region morphology phenotype",
- "Abnormality of the skin",
- "mouth morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "Pancytopenia",
- "hematopoietic system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "trunk",
- "Aplasia/Hypoplasia of the radius",
- "limb endochondral element",
- "specifically dependent continuant",
- "decreased size of the bone of pectoral complex",
- "Abnormality of the kidney",
- "bone marrow cell",
- "facial skeleton morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "external nose morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "skeleton of lower jaw phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "trunk region element phenotype",
- "cranial skeletal system",
- "Abnormal platelet morphology",
- "subdivision of skeletal system phenotype",
- "skeletal element",
- "Finger aplasia",
- "Abnormal facial skeleton morphology",
- "decreased size of the arm bone",
- "subdivision of head",
- "endochondral element phenotype",
- "Abnormality of the digestive system",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "nose tip phenotype",
- "multicellular anatomical structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "number of anatomical enitites of type anatomical entity phenotype",
- "endochondral element",
- "bone cell",
- "Abnormal bone marrow cell morphology",
- "Abnormal skeletal morphology",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "bone of jaw",
- "erythrocyte",
- "Abnormality of blood and blood-forming tissues",
- "lower jaw region",
- "anatomical structure",
- "Aplasia/Hypoplasia of the mandible",
- "anucleate cell",
- "dentary",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "organ",
- "Thrombocytopenia",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Abnormality of the genitourinary system",
- "Short finger",
- "Abnormal cell morphology",
- "anatomical entity phenotype",
- "decreased length of palpebral fissure",
- "jaw skeleton",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Abnormality of the mouth",
- "axial skeletal system",
- "facial skeleton phenotype",
- "Chromosome breakage",
- "Abnormal platelet count",
- "Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
- "appendage girdle complex",
- "Abnormality of the skeletal system",
- "anatomical conduit phenotype",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "ear",
- "Abnormal erythrocyte morphology",
- "absent anatomical structure",
- "dermatocranium",
- "decreased length of digit 1",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "hematopoietic cell",
- "hemolymphoid system",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "musculature of body phenotype",
- "Anemia",
- "skeleton of limb",
- "digestive tract",
- "decreased length of orifice",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "decreased size of the forelimb bone",
- "main body axis",
- "mandible morphology phenotype",
- "integument phenotype",
- "musculature",
- "dermal skeletal element phenotype",
- "decreased size of the anatomical structure",
- "bone of lower jaw",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "Short forearm",
- "growth phenotype",
- "testis phenotype",
- "bone marrow",
- "nucleate cell",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal cellular immune system morphology",
- "forelimb zeugopod bone hypoplasia",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "decreased sensory perception of mechanical stimulus",
- "bone of jaw phenotype",
- "taxon specific phenotype",
- "forelimb phenotype",
- "anatomical collection phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "Abnormal limb bone morphology",
- "organ part",
- "endochondral bone phenotype",
- "lateral structure",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "decreased number of material anatomical entity",
- "skin of body",
- "number of platelet phenotype",
- "localised testis",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "leukocyte",
- "material entity",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "facial skeleton",
- "serotonin secreting cell",
- "arm bone phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "Short long bone",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "decreased qualitatively biological_process",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "oxygen accumulating cell",
- "bone of craniocervical region phenotype",
- "hematopoietic system",
- "mandible",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "simple eye phenotype",
- "blood cell phenotype",
- "decreased number of hematopoietic cell",
- "anatomical entity hypoplasia in face",
- "camera-type eye phenotype",
- "limb bone",
- "number of cell phenotype",
- "zeugopod phenotype",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "mouth",
- "Abnormal cellular phenotype",
- "subdivision of tube phenotype",
- "All",
- "appendicular skeleton",
- "male organism phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ system subdivision phenotype",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "agenesis of anatomical entity",
- "number of hematopoietic cell phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "sense organ physiology phenotype",
- "primary subdivision of skull",
- "tube phenotype",
- "decreased number of cell",
- "musculature of body",
- "skeletal system",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "anatomical entity morphology in the pectoral complex phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "absent multicellular anatomical structure in the limb",
- "facial bone hypoplasia",
- "decreased size of the long bone",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "Abnormality of the integument",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "craniocervical region phenotype",
- "aplasia or hypoplasia of mandible",
- "digit 1 or 5 phenotype",
- "dermatocranium phenotype",
- "localised multicellular anatomical structure",
- "platelet",
- "primary subdivision of cranial skeletal system",
- "regulation of biological process",
- "manual digit",
- "decreased length of arm bone",
- "long bone",
- "vestibulo-auditory system phenotype",
- "upper limb segment",
- "limb segment phenotype",
- "limb segment",
- "decreased height of the multicellular organism",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased length of mesoderm-derived structure",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "decreased length of forelimb zeugopod bone",
- "Short palpebral fissure",
- "forelimb long bone phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "digit 1 or 5",
- "forelimb",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "forelimb zeugopod skeleton",
- "Squamous cell carcinoma",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "decreased length of anatomical entity",
- "decreased size of the skeletal element",
- "decreased length of multicellular anatomical structure",
- "neural crest-derived structure phenotype",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "immune system morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "decreased length of organ",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "bone of pectoral complex morphology phenotype",
- "mouth phenotype",
- "abdomen",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "pectoral appendage skeleton",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "negative regulation of cellular metabolic process",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "radius bone morphology phenotype",
- "upper limb segment phenotype",
- "Neoplasm of the skin",
- "biological_process phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
- "intramembranous bone phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "decreased length of bone of pectoral complex",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Aplasia/Hypoplasia involving bones of the skull",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "vestibulo-auditory system",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "size of anatomical entity phenotype",
- "quality",
- "Upper limb undergrowth",
- "absent anatomical entity",
- "acropodium region",
- "zeugopodial skeleton",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "decreased size of the endochondral bone",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "long bone phenotype",
- "decreased length of skeletal element",
- "testis",
- "male reproductive system",
- "anatomical entity length phenotype",
- "decreased size of the limb bone",
- "non-connected functional system",
- "gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "forelimb skeleton phenotype",
- "digestive system element",
- "pectoral appendage phenotype",
- "external genitalia",
- "limb bone morphology phenotype",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Limb undergrowth",
- "decreased size of the forelimb endochondral element",
- "arm bone",
- "occurrent",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "decreased size of the palpebral fissure",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "radius bone hypoplasia",
- "decreased length of bone of free limb or fin",
- "renal system",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "dermal bone phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "bone of pectoral complex phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "male reproductive system phenotype",
- "kidney phenotype",
- "reproductive structure",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "craniocervical region",
- "decreased length of organism subdivision",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormality of the genital system",
- "reproductive organ phenotype",
- "kidney",
- "genitourinary system phenotype",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
- "nose tip",
- "localised gonad",
- "head phenotype",
- "anatomical entity",
- "localised organ",
- "location of anatomical entity phenotype",
- "renal system phenotype",
- "localised anatomical entity",
- "localised material anatomical entity",
- "reproductive system",
- "face morphology phenotype",
- "dermal skeletal element",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "subdivision of organism along main body axis phenotype",
- "aplasia or hypoplasia of skull",
- "male organism",
- "membrane bone",
- "decreased length of autopodial extension",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "myeloid cell",
- "autopod region",
- "decreased qualitatively nervous system process",
- "segment of autopod",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "Hypoplastic facial bones",
- "manus",
- "integument",
- "skeleton of manus",
- "reproductive system phenotype",
- "autopodial extension",
- "Short digit",
- "Short thumb",
- "skull",
- "Abnormality of the hand",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "head bone",
- "Ectopic kidney",
- "decreased length of anatomical conduit",
- "Growth delay",
- "biological_process",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "growth",
- "regulation of gene expression phenotype",
- "increased size of the olfactory organ",
- "delayed biological_process",
- "delayed growth",
- "abdominal segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "abdominal segment element",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "abdomen element phenotype",
- "dentary phenotype",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "Micrognathia",
- "renal/urinary system phenotype",
- "localised abdomen element",
- "abdominal segment element phenotype",
- ],
- },
- {
- "id": "MONDO:0024525",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
- "synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001942",
- "HP:0002148",
- "HP:0000124",
- "HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
- "HP:0002748",
- "HP:0034359",
- "HP:0003076",
- "HP:0003155",
- "HP:0000083",
- "HP:0003355",
- "HP:0004322",
- "HP:0003126",
- "HP:0001324",
- ],
- "has_phenotype_label": [
- "Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
- "Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
- "Impaired renal tubular reabsorption of phosphate",
- "Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
- "Renal insufficiency",
- "Aminoaciduria",
- "Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness",
- ],
- "has_phenotype_count": 16,
- "has_phenotype_closure": [
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- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
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- "CHEBI:16670",
- "HP:0000093",
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- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0081424",
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- "UPHENO:0002531",
- "UPHENO:0002346",
- "CHEBI:33521",
- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
- "CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "UPHENO:0002964",
- ],
- "has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
"anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
+ "Abnormality of the head",
+ "Abnormal enteric nervous system morphology",
+ "future central nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "fused pedal digit and pedal digit",
+ "ocular surface region morphology phenotype",
+ "decreased length of anatomical structure",
+ "cornea",
+ "abdominal wall",
+ "3-D shape anatomical entity",
+ "external male genitalia",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "orifice",
+ "shape cornea",
+ "multicellular organism development phenotype",
+ "Abnormal eye physiology",
+ "asymmetrically curved anatomical entity",
+ "Dolichocephaly",
+ "common carotid artery plus branches",
+ "drooping eyelid",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "decreased length of bone of pectoral complex",
+ "ventricle of nervous system phenotype",
+ "increased number of anatomical structure",
+ "delayed biological_process",
+ "systemic artery",
"organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
+ "Abnormality of body height",
+ "decreased size of the mesoderm-derived structure",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "non-material anatomical boundary",
+ "Abnormality of head or neck",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "lower urinary tract phenotype",
+ "non-connected functional system",
+ "increased number of anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Clinodactyly of the 5th finger",
+ "sense organ",
+ "orbital region",
+ "hypertrophic heart right ventricle",
+ "vasculature phenotype",
+ "Abnormality of the endocrine system",
+ "forelimb",
+ "skeleton of pelvic complex",
+ "anterior segment of eyeball morphology phenotype",
+ "face phenotype",
+ "Abnormal frontal bone morphology",
+ "Abnormality of lower limb joint",
+ "curvature anatomical entity",
+ "increased number of material anatomical entity",
+ "skeletal system",
+ "hindlimb skeleton",
+ "protein-containing material entity",
+ "anatomical entity phenotype",
+ "gamete generation",
+ "organ part phenotype",
+ "male organism",
+ "fused pedal digit and anatomical entity",
+ "Irregular hyperpigmentation",
+ "lateral structure phenotype",
+ "pelvic girdle region",
+ "paired limb/fin segment",
+ "multicellular organism development",
+ "Ventriculomegaly",
+ "urethra",
+ "thoracic segment organ",
+ "Astigmatism",
+ "Abnormal carotid artery morphology",
+ "anterior region of body",
+ "Abnormal reproductive system morphology",
+ "lateral structure physiology phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "upper leg bone",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "asymmetrically curved cornea",
+ "decreased qualitatively reproductive process",
+ "dermal skeletal element phenotype",
+ "neural crest-derived structure",
+ "incomplete closing of the interatrial septum",
+ "epithelial tube formation",
+ "digestive system element phenotype",
+ "brain ventricle morphology phenotype",
+ "Abnormal umbilicus morphology",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormal joint morphology",
+ "transudate",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "multi cell part structure",
+ "vein",
+ "limb long bone morphology phenotype",
"bodily fluid",
+ "multi-tissue structure",
+ "facial skeleton morphology phenotype",
+ "limb long bone phenotype",
"All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
+ "Abnormal bone structure",
+ "naris phenotype",
+ "lens of camera-type eye morphology phenotype",
+ "nervous system phenotype",
+ "postcranial axial skeletal system",
+ "Clubbing of toes",
+ "arterial system",
+ "bone of pelvic complex morphology phenotype",
+ "kidney morphology phenotype",
+ "dorsum",
+ "nervous system development",
+ "tube formation phenotype",
+ "peripheral nervous system phenotype",
+ "tissue",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
+ "brain ventricle",
+ "future nervous system",
+ "regional part of nervous system phenotype",
"Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
+ "circulatory system",
+ "Spina bifida",
+ "embryo development ending in birth or egg hatching",
+ "epithelial tube morphogenesis",
+ "morphogenesis of an epithelium",
+ "appendicular skeleton",
+ "spinal cord",
+ "Abnormal facial skeleton morphology",
+ "multi organ part structure",
+ "increased length of the anatomical line between pupils",
+ "manual digit 1 phalanx",
+ "orifice phenotype",
+ "neocortex morphology phenotype",
+ "gamete",
+ "upper jaw region",
+ "palpebral fissure phenotype",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
"Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
+ "Abnormal testis morphology",
+ "deviation of anatomical entity towards the middle",
+ "Abnormal eyelid morphology",
+ "palpebral fissure",
+ "female reproductive organ",
+ "ocular adnexa",
+ "opaque lens of camera-type eye",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "lens of camera-type eye phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "transparent eye structure phenotype",
+ "Cataract",
+ "heart right ventricle",
+ "increased size of the anatomical entity",
+ "lens of camera-type eye",
+ "Atrial septal defect",
+ "drooping anatomical entity",
+ "eyelid phenotype",
+ "large intestine",
+ "Ptosis",
+ "Abnormal cornea morphology",
+ "gland",
+ "clavate digit",
+ "decreased size of the anatomical structure",
+ "shape eyelid",
+ "decreased qualitatively sensory perception",
+ "incomplete closing of the multicellular anatomical structure",
+ "Hydrocephalus",
+ "telencephalon morphology phenotype",
+ "hindlimb morphology phenotype",
+ "anatomical projection",
+ "number of hematopoietic cell phenotype",
+ "Eumetazoa",
+ "phalanx morphology phenotype",
+ "Eukaryota",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "forebrain morphology phenotype",
+ "root",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormality of the male genitalia",
+ "increased size of the organ part",
+ "cellular organisms",
+ "size of skull phenotype",
+ "increased length of the multicellular anatomical structure",
+ "Bicornuate uterus",
+ "regional part of brain phenotype",
+ "limb long bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "size of anatomical entity phenotype",
+ "female reproductive system morphology phenotype",
+ "telencephalon",
+ "cranial skeletal system",
+ "nose",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "tube closure",
+ "ocular adnexa phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autonomic nervous system phenotype",
+ "Abnormality of the abdominal organs",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "Deviation of the 5th finger",
+ "regional part of brain",
+ "regional part of nervous system",
+ "interventricular septum",
+ "increased length of the anatomical line",
+ "ganglion of peripheral nervous system morphology phenotype",
+ "Abnormal midface morphology",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
+ "oral cavity",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "testis",
+ "left cardiac chamber",
+ "Aplasia/Hypoplasia of the testes",
+ "Abnormality of the testis size",
+ "gonad",
+ "palatine uvula morphology phenotype",
+ "Decreased anatomical entity mass density",
+ "embryo",
+ "Absent testis",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "decreased length of forelimb bone",
+ "long bone phenotype",
+ "Abnormality of the outer ear",
+ "number of myeloid cell phenotype",
+ "absent germ cell",
+ "ear morphology phenotype",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "vestibulo-auditory system",
+ "anterior uvea",
+ "Abnormality of blood and blood-forming tissues",
+ "external ear phenotype",
+ "Abnormal cerebral cortex morphology",
+ "forebrain",
+ "increased qualitatively biological_process",
+ "increased size of the non-material anatomical boundary",
+ "incomplete closing of the organ",
+ "Abnormal pinna morphology",
+ "Abnormal ear morphology",
+ "ear",
+ "artery morphology phenotype",
+ "developmental process involved in reproduction phenotype",
+ "male reproductive organ physiology phenotype",
+ "internal male genitalia",
+ "anatomical entity morphology in the brain phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "multi organ part structure phenotype",
+ "increased size of the ventricle of nervous system",
+ "epicanthal fold",
+ "hindlimb long bone",
+ "decreased length of multicellular anatomical structure",
+ "abdomen element phenotype",
+ "increased size of the organ component layer",
+ "Abnormal nasal morphology",
+ "internal male genitalia physiology phenotype",
+ "duodenum morphology phenotype",
+ "Abnormality of the nervous system",
+ "pedal digit digitopodial skeleton",
+ "paralysed cranial nerve",
+ "increased size of the ectoderm-derived structure",
+ "abdomen element physiology phenotype",
+ "increased length of the zone of organ",
+ "absent anatomical structure",
"trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
+ "manual digit 5 plus metapodial segment",
+ "female reproductive system phenotype",
+ "zone of organ",
+ "skull phenotype",
+ "increased size of the brain ventricle",
+ "increased size of the multicellular anatomical structure",
+ "visual perception phenotype",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "digestive system morphology phenotype",
+ "exocrine gland phenotype",
+ "Decreased fertility",
+ "Abnormality of the genitourinary system",
+ "exocrine system",
+ "decreased length of forelimb endochondral element",
+ "intromittent organ",
+ "respiratory system morphology phenotype",
+ "gland phenotype",
+ "Abnormality of the liver",
+ "fused anatomical entity and manual digit",
+ "incomplete closing of the roof of mouth",
+ "liver",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Visual impairment",
+ "ulna",
+ "deviation of manual digit towards the middle",
+ "abdomen",
+ "trunk region element phenotype",
+ "Conotruncal defect",
+ "digestive system gland",
"musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
+ "abdominal segment element",
+ "gonad phenotype",
+ "internal ear phenotype",
+ "liver phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "gamete generation phenotype",
+ "subdivision of skeletal system",
+ "hepatobiliary system",
+ "male germ cell",
+ "Aplasia/Hypoplasia of the uvula",
+ "behavior process",
+ "cardiovascular system morphology phenotype",
+ "anterior chamber of eyeball",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "increased size of the right cardiac chamber",
+ "hypothalamus-pituitary axis phenotype",
+ "posterior nasal aperture phenotype",
+ "hypothalamus-pituitary axis",
+ "Abnormal reflex",
+ "hindlimb joint",
+ "anatomical line phenotype",
+ "penis",
+ "increased size of the anatomical line",
+ "tube phenotype",
+ "Hypertelorism",
+ "increased length of the anatomical entity",
+ "anatomical line",
+ "immaterial anatomical entity phenotype",
+ "non-material anatomical boundary phenotype",
+ "increased length of the immaterial anatomical entity",
+ "Decreased multicellular organism mass",
+ "Aplasia/Hypoplasia of the ulna",
+ "intestine",
+ "ectoderm-derived structure phenotype",
+ "immaterial anatomical entity",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "location of eyeball of camera-type eye phenotype",
+ "decreased size of the sense organ",
+ "vessel",
+ "spermatogenesis phenotype",
+ "anatomical entity atresia",
+ "Abnormal spermatogenesis",
+ "absent material anatomical entity in the multicellular organism",
+ "morphogenesis of embryonic epithelium",
+ "haploid cell",
+ "germ line cell",
+ "Cafe-au-lait spot",
+ "gamete phenotype",
+ "absent material anatomical entity",
+ "spermatogenesis",
+ "internal naris",
+ "sperm",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "decreased qualitatively developmental process",
+ "reproductive process phenotype",
+ "male gamete",
+ "prepuce of penis morphology phenotype",
+ "absent gamete",
+ "decreased sensory perception of mechanical stimulus",
+ "iris",
+ "integumental system",
+ "semen",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "decreased gamete generation",
+ "absent anatomical entity in the semen",
+ "subdivision of skeleton phenotype",
+ "male reproductive system physiology phenotype",
+ "conceptus",
+ "decreased multicellular organismal reproductive process",
+ "Abnormal cellular phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "absent anatomical entity",
+ "internal genitalia",
+ "skeleton of pes",
+ "pes morphology phenotype",
+ "organ part morphology in the heart phenotype",
+ "reproduction",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
+ "epithelium",
+ "autopodial skeleton",
+ "outflow tract of ventricle",
+ "increased size of the brain ventricle/choroid plexus",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "Abnormality of the palpebral fissures",
+ "obsolete multicellular organism reproduction",
+ "decreased developmental process",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "multicellular organismal reproductive process phenotype",
+ "Abnormality of the nose",
+ "developmental process involved in reproduction",
+ "sexual reproduction",
+ "male gamete generation",
+ "fused anatomical entity and digit",
+ "hematopoietic system phenotype",
+ "small intestine morphology phenotype",
+ "small intestine",
+ "cavitated compound organ",
+ "Abnormal duodenum morphology",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "Abnormal foot morphology",
+ "Duodenal stenosis",
+ "testis phenotype",
+ "Abnormality of movement",
+ "intestine morphology phenotype",
+ "subdivision of tube phenotype",
+ "increased length of the skin of head",
+ "Azoospermia",
+ "Abnormal small intestine morphology",
+ "clavate anatomical entity",
+ "Hydroureter",
+ "membrane bone phenotype",
+ "Abnormal uterus morphology",
+ "myocardium phenotype",
+ "Abnormal oral morphology",
+ "Choanal atresia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "continuant",
+ "hindlimb",
+ "Functional abnormality of the inner ear",
+ "pedal digit",
+ "leg",
+ "neoplasm phenotype",
+ "phalanx of pes",
+ "cardiac valve morphology phenotype",
+ "orifice atresia",
+ "digitopodium bone",
+ "phalanx",
+ "Abnormality of the lower limb",
+ "jaw skeleton",
+ "exocrine gland",
+ "hindlimb bone",
+ "phalanx endochondral element",
+ "skeleton of pedal digitopodium",
+ "skeleton of pedal acropodium",
+ "vertebral centrum element",
+ "pelvic appendage skeleton",
+ "pes",
+ "segment of pes",
+ "voluntary movement behavior",
+ "Renal hypoplasia/aplasia",
+ "localised reproductive structure",
+ "digitopodium region",
+ "fused manual digit and manual digit",
+ "pedal digitopodium region",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "lower limb segment",
+ "increased length of the anatomical structure",
+ "pedal digitopodium bone",
+ "prepuce of penis",
+ "concave 3-D shape anatomical entity",
+ "digit morphology phenotype",
+ "pelvic complex",
+ "duodenum",
+ "formed organ subunit",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "joint of girdle morphology phenotype",
+ "Proptosis",
+ "hindlimb stylopod",
+ "lower limb segment phenotype",
+ "pelvic girdle skeleton",
+ "pedal digit morphology phenotype",
+ "posterior region of body",
+ "Abnormal lower limb bone morphology",
+ "incomplete closing of the arch of centrum of vertebra",
"renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
+ "Abnormality of the upper urinary tract",
+ "radius endochondral element",
+ "skin of face morphology phenotype",
+ "Abnormal renal morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal cardiovascular system morphology",
+ "Abnormal ocular adnexa morphology",
"cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
+ "Abnormal localization of kidney",
+ "Ocular anterior segment dysgenesis",
+ "Abnormal anus morphology",
+ "compound organ phenotype",
+ "decreased functionality of the reproductive organ",
+ "Abnormality of the female genitalia",
+ "cardiac ventricle morphology phenotype",
+ "renal system morphology phenotype",
+ "male reproductive system morphology phenotype",
+ "orbital region phenotype",
"Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
- "skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
+ "neural tube closure phenotype",
+ "kidney",
+ "mouth",
+ "Aplasia/Hypoplasia of the iris",
+ "midface morphology phenotype",
+ "oral cavity morphology phenotype",
+ "morphological feature phenotype",
+ "myocardium morphology phenotype",
+ "incomplete closing of the anatomical structure",
+ "Abnormal oral cavity morphology",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal aortic valve morphology",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "soft palate",
+ "soft palate morphology phenotype",
+ "Abnormal soft palate morphology",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "malformed anatomical entity",
+ "subdivision of organism along main body axis",
+ "formed anterior chamber of eyeball",
+ "Abnormal hip joint morphology",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "fused digit and digit",
+ "decreased length of organ",
+ "formed multicellular anatomical structure",
+ "iris phenotype",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "formed anatomical structure",
+ "formed material anatomical entity",
+ "decreased length of mesoderm-derived structure",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "palatine uvula phenotype",
+ "Joint dislocation",
+ "Abnormal uvea morphology",
+ "Abnormality iris morphology",
+ "circulatory organ",
+ "uvea",
+ "anatomical collection",
+ "Macule",
+ "increased biological_process in skin of body",
+ "posterior nasal aperture atresia",
+ "cerebral hemisphere morphology phenotype",
+ "Hypospadias",
+ "fused manual digit and anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "musculature",
+ "Localized skin lesion",
+ "Abnormal 5th finger morphology",
+ "Abnormal thumb morphology",
+ "aplasia or hypoplasia of ulna",
+ "Abnormal size of the palpebral fissures",
+ "autopod region phenotype",
+ "Finger clinodactyly",
+ "anatomical entity morphology in the manus phenotype",
+ "manual digit",
+ "skeleton phenotype",
+ "manus morphology phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "Abnormality of the hand",
+ "bone of hip region",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "amniotic fluid",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "neural crest-derived structure phenotype",
+ "manual digit morphology in the manus phenotype",
+ "decreased pigmentation in skin of body",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia involving the skeleton",
+ "fused digit and anatomical entity",
+ "anatomical entity mass density phenotype",
+ "pelvic girdle bone/zone",
+ "eye movement phenotype",
+ "respiratory system phenotype",
+ "Abnormality of bone mineral density",
+ "brain ventricle/choroid plexus phenotype",
+ "bone element mass density phenotype",
+ "biogenic amine secreting cell",
"ossification",
- "carbohydrate",
- "skeletal system",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "deviation of anatomical entity",
+ "digit 1 or 5",
+ "cranial nerve related reflex",
+ "manual digit 5 morphology phenotype",
+ "manual digit 5",
+ "spatial pattern of anatomical entity phenotype",
+ "digit 1 or 5 phenotype",
+ "digit 5 plus metapodial segment",
+ "digestive system",
+ "decreased length of endochondral bone",
+ "Deviation of the hand or of fingers of the hand",
+ "appendicular skeletal system",
+ "deviation of manual digit 5",
+ "deviation of manual digit",
+ "decreased functionality of the organ part",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "ulna phenotype",
+ "increased height of the secondary palate",
+ "Tetralogy of Fallot",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "genitourinary system",
+ "Limb undergrowth",
+ "decreased size of the forelimb endochondral element",
+ "cardiac ventricle morphology in the heart phenotype",
+ "decreased size of the anatomical entity",
+ "Upper limb undergrowth",
+ "decreased length of material anatomical entity",
+ "decreased length of skeletal element",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the endochondral bone",
+ "Hematological neoplasm",
+ "decreased size of the organ",
+ "ulna hypoplasia",
+ "head bone phenotype",
+ "decreased size of the bone of pectoral complex",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "decreased size of the bone of free limb or fin",
+ "increased response to external stimulus",
+ "forelimb zeugopod bone hypoplasia",
+ "forelimb long bone phenotype",
+ "paired limb/fin skeleton",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "Hypoplasia of the ulna",
+ "decreased size of the bone element",
+ "Short forearm",
+ "decreased length of limb endochondral element",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased size of the bone of appendage girdle complex",
+ "increased length of the zone of skin",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Cardiomyopathy",
+ "flat bone",
+ "pelvic region element",
+ "Hyperpigmentation of the skin",
+ "limb joint",
+ "anatomical conduit atresia",
+ "joint of girdle",
+ "manus phenotype",
+ "hindlimb joint phenotype",
+ "zone of bone organ",
+ "skeletal joint",
+ "articulation phenotype",
+ "Micrognathia",
+ "anatomical entity dislocation",
+ "skeletal joint dislocation",
],
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "name": "Fanconi anemia complementation group O",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia",
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia",
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
- "HP:0001873",
- "HP:0005528",
- "HP:0006254",
- "HP:0003221",
- "HP:0001903",
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0001245",
+ "HP:0003774",
+ "HP:0002984",
+ "HP:0000126",
+ "HP:0000028",
+ "HP:0009778",
+ "HP:0009623",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0003241",
"HP:0004322",
- "HP:0000252",
+ "HP:0002023",
+ "HP:0025023",
],
"has_phenotype_label": [
- "Neutropenia",
- "Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
- "Anemia",
+ "Absent thumb",
+ "Chromosome breakage",
+ "Small thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "Hypoplasia of the radius",
+ "Hydronephrosis",
+ "Cryptorchidism",
+ "Short thumb",
+ "Proximal placement of thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
"Short stature",
- "Microcephaly",
+ "Anal atresia",
+ "Rectal atresia",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
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- "UPHENO:0004704",
- "HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
- "UBERON:0011676",
+ "UBERON:0013522",
+ "UPHENO:0063629",
+ "UPHENO:0002994",
+ "UBERON:0013765",
+ "UPHENO:0074310",
+ "UPHENO:0076735",
+ "HP:0002589",
+ "UPHENO:0074311",
+ "UPHENO:0076783",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UBERON:0001353",
"NCBITaxon:131567",
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- "UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
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- "UBERON:0011138",
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- "UBERON:0010314",
- "HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
- "UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
- "HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
+ "UPHENO:0002714",
+ "HP:0002242",
+ "UPHENO:0063615",
+ "HP:0012732",
+ "UPHENO:0076773",
+ "UBERON:0000059",
+ "HP:0002034",
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- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
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- "CL:0000151",
- "UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
+ "NCBITaxon:1",
+ "HP:0012718",
+ "UPHENO:0063563",
+ "UBERON:0000160",
+ "UBERON:0006866",
+ "UBERON:0001052",
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+ "UPHENO:0063577",
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- "UBERON:0002405",
- "UPHENO:0004503",
+ "UPHENO:0046472",
+ "GO:0009889",
+ "HP:0030680",
+ "NCBITaxon:33208",
+ "HP:0011017",
+ "UPHENO:0002976",
"UPHENO:0050025",
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- "HP:0002060",
- "UBERON:0001062",
- "CHEBI:33285",
- "HP:0000118",
- "UPHENO:0086016",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0087907",
- "UPHENO:0002532",
- "BFO:0000040",
- "GO:0031324",
- "UPHENO:0081581",
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- "HP:0001871",
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- "CL:0000738",
- "UPHENO:0001001",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010987",
+ "CL:0000000",
+ "GO:0009890",
+ "UPHENO:0002750",
+ "UPHENO:0081466",
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- "UPHENO:0085344",
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- "BFO:0000004",
- "CHEBI:33302",
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+ "UPHENO:0080352",
"UBERON:0000075",
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- "GO:0019222",
- "UBERON:0004288",
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- "CHEBI:50047",
- "UPHENO:0002530",
- "UPHENO:0050063",
- "CL:0000988",
- "HP:0012130",
- "CHEBI:33256",
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+ "UPHENO:0002536",
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- "HP:0430071",
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],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
+ "Opisthokonta",
+ "Anorectal anomaly",
+ "rectum morphology phenotype",
+ "Abnormal intestine morphology",
+ "Rectal atresia",
+ "closing of the organ part",
+ "intestine morphology phenotype",
+ "intestine atresia",
+ "anatomical system atresia",
+ "subdivision of digestive tract atresia",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "rectum atresia",
+ "organism",
+ "digestive system element",
+ "internal anal region",
"cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
+ "Abnormal gastrointestinal tract morphology",
+ "organ part atresia",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
"Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
+ "alimentary part of gastrointestinal system",
+ "alimentary part of gastrointestinal system atresia",
+ "anus",
+ "material anatomical entity atresia",
+ "closing of the anatomical structure",
+ "digestive system phenotype",
+ "digestive tract",
+ "closing of the anatomical conduit",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "Abnormal anus morphology",
+ "ectoderm-derived structure phenotype",
+ "orifice",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "orifice phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal digestive system morphology",
"root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "Abnormality of the digestive system",
+ "closing of the ectoderm-derived structure",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "palmar/plantar part of autopod",
+ "anal region",
+ "muscle structure",
+ "large intestine",
+ "material anatomical entity",
+ "Abnormal skeletal muscle morphology",
+ "arm phenotype",
+ "thoracic cavity element",
+ "pectoral appendage musculature",
+ "musculature of upper limb",
+ "regulation of cellular metabolic process",
+ "subdivision of tube phenotype",
+ "musculature of limb phenotype",
+ "independent continuant",
+ "subdivision of skeletal system",
+ "entity",
+ "forelimb zeugopod bone morphology phenotype",
+ "autopod region morphology phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "reproductive system",
+ "muscle organ",
+ "musculature of pectoral complex",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "cell phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "cell",
+ "Abnormality of the upper limb",
+ "skeletal element",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "zeugopod",
+ "regulation of biosynthetic process phenotype",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Abnormality of chromosome stability",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "increased size of the renal pelvis",
+ "homeostatic process",
+ "appendage girdle complex",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
"organ phenotype",
+ "decreased length of manual digit",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "dilated renal pelvis",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "localised testis",
+ "musculoskeletal system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "decreased length of endochondral bone",
"Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
- "regional part of brain",
- "central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
"Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Abnormality of the urinary system physiology",
+ "bone element phenotype",
+ "pectoral complex",
+ "multi-limb segment region phenotype",
+ "regulation of macromolecule metabolic process",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "closing of the subdivision of tube",
+ "skeleton of limb",
"negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
+ "decreased size of the autopodial extension",
+ "musculature of manus",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "orifice atresia",
+ "appendicular skeleton",
+ "upper limb segment",
+ "external soft tissue zone phenotype",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "embryo phenotype",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "Anal atresia",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "thenar eminence hypoplasia",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "palmar part of manus",
+ "Abnormal large intestine morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "trunk region element physiology phenotype",
+ "male reproductive organ phenotype",
+ "autopodial extension phenotype",
+ "manual digit",
+ "Abnormal cardiovascular system morphology",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "late embryo phenotype",
+ "regulation of cellular process phenotype",
+ "forelimb zeugopod",
+ "Abnormal appendicular skeleton morphology",
+ "multicellular organism",
+ "regulation of macromolecule biosynthetic process",
+ "muscle organ morphology phenotype",
+ "autopod region phenotype",
"material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
- "negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "Hypoplasia of the radius",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
"bone element",
- "p-block molecular entity",
- "biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
+ "regulation of biological process",
+ "digit 1 phenotype",
+ "lateral structure",
+ "mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "closing of the multicellular anatomical structure",
"organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
+ "thenar eminence phenotype",
+ "musculature",
+ "Abnormality of the thenar eminence",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical conduit phenotype",
"taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
+ "Abnormal rectum morphology",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "musculature of limb",
+ "Abnormal cellular physiology",
+ "cardiovascular system",
+ "male reproductive system phenotype",
+ "aplastic manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "lower digestive tract",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of digestive tract",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "renal pelvis",
+ "forelimb",
"Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "system",
+ "regulation of gene expression phenotype",
+ "bone of appendage girdle complex phenotype",
+ "Abnormality of prenatal development or birth",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "forelimb skeleton",
+ "genitourinary system",
+ "renal pelvis phenotype",
+ "anatomical entity",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "Proximal placement of thumb",
+ "alimentary part of gastrointestinal system phenotype",
+ "pectoral appendage skeleton",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "manus",
+ "thenar eminence",
+ "Abnormality of limbs",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
"multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the musculature of the limbs",
+ "anatomical structure physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical conduit atresia",
+ "Deviation of finger",
+ "Abnormality of the skeletal system",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "Abnormal renal pelvis morphology",
+ "Aplasia/hypoplasia of the extremities",
"Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "Abnormality of the musculature",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "thoracic segment of trunk",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent organism subdivision",
+ "autopod region",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "decreased length of mesoderm-derived structure",
+ "negative regulation of macromolecule metabolic process",
+ "abdominal segment element",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Deviation of the thumb",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "absent anatomical entity",
"process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "intestine phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "limb segment phenotype",
+ "digit 1 or 5 phenotype",
+ "digestive system",
+ "anatomical entity morphology phenotype",
+ "obsolete cell",
+ "decreased length of long bone",
"programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
+ "spatial pattern of anatomical entity phenotype",
+ "subdivision of tube atresia",
+ "multi-limb segment region",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "musculature of pectoral complex phenotype",
+ "decreased length of anatomical structure",
+ "musculature of manus phenotype",
+ "trunk",
+ "Abnormality of the musculature of the hand",
+ "appendage musculature",
+ "manus morphology phenotype",
+ "musculature of upper limb phenotype",
+ "Abnormality of the musculature of the upper limbs",
+ "compound organ physiology phenotype",
+ "Small thenar eminence",
+ "abdomen element physiology phenotype",
+ "pectoral appendage musculature phenotype",
+ "digit 1 plus metapodial segment",
+ "Abnormal renal physiology",
+ "Intestinal atresia",
+ "arm bone",
+ "kidney physiology phenotype",
+ "radius endochondral element",
+ "anatomical system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "localised anatomical structure",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "cavitated compound organ physiology phenotype",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "Chronic kidney disease",
+ "renal system phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "body proper",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
"anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "male organism",
+ "renal system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "Renal insufficiency",
+ "Abnormality of the kidney",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the cardiovascular system",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "absent autopodial extension",
+ "Fetal ultrasound soft marker",
+ "closing of the material anatomical entity",
+ "circulatory system",
+ "subdivision of organism along main body axis",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "lateral structure physiology phenotype",
+ "renal system",
+ "digestive system morphology phenotype",
+ "Abnormality of the urinary system",
+ "renal/urinary system phenotype",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "upper urinary tract phenotype",
+ "decreased length of digit 1 or 5",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
"biological_process phenotype",
- "oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "testis phenotype",
"negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
+ "material entity",
+ "long bone",
+ "structure with developmental contribution from neural crest",
+ "Abnormality of the hand",
+ "radius bone",
+ "heart",
+ "Limb undergrowth",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
+ "decreased size of the material anatomical entity",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "Hydronephrosis",
+ "decreased length of organism subdivision",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormal testis morphology",
+ "cardiovascular system phenotype",
+ "decreased size of the bone of free limb or fin",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased size of the limb bone",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "forelimb zeugopod bone",
+ "decreased length of manual digit 1 or 5",
+ "decreased length of multicellular anatomical structure",
+ "kidney",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "appendage musculature phenotype",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "bone of pectoral complex morphology phenotype",
"negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
- "erythroid lineage cell",
+ "Short finger",
+ "organ",
+ "decreased size of the anatomical structure",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased size of the endochondral element",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "deviation of anatomical entity",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "increased size of the anatomical structure",
+ "primary circulatory organ",
+ "localised organ",
+ "thoracic segment organ",
+ "renal pelvis/ureter",
+ "phenotype",
+ "Fetal pyelectasis",
+ "embryonic development/birth phenotype",
+ "Abnormal fetal genitourinary system morphology",
+ "organ part",
+ "external genitalia phenotype",
+ "multicellular organism phenotype",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "Abnormal renal morphology",
+ "increased size of the organ part",
+ "Fetal anomaly",
+ "renal pelvis morphology phenotype",
+ "anatomical cluster",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "decreased length of digit",
+ "anatomical conduit",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Dilatation of the renal pelvis",
+ "Gastrointestinal atresia",
+ "late embryo",
+ "limb",
+ "increased size of the anatomical entity",
+ "increased size of the material anatomical entity",
+ "biological_process",
+ "genitourinary system phenotype",
+ "dilated anatomical entity",
+ "embryo",
+ "increased size of the anatomical conduit",
+ "anus atresia",
+ "Short long bone",
+ "reproductive organ",
+ "Abnormal fetal morphology",
+ "increased size of the multicellular anatomical structure",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the genital system",
+ "testis",
+ "large intestine morphology phenotype",
+ "localised reproductive structure",
+ "reproductive system phenotype",
+ "Cryptorchidism",
+ "heart plus pericardium",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "reproductive structure phenotype",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "external genitalia",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "gonad phenotype",
+ "reproductive structure",
"decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
+ "localised anatomical entity",
+ "external male genitalia phenotype",
+ "decreased size of the organism subdivision",
+ "anterior region of body",
+ "decreased length of manual digit 1",
+ "rectum phenotype",
+ "paired limb/fin",
+ "decreased size of the digit",
+ "Short thumb",
+ "Short digit",
+ "decreased size of the forelimb bone",
+ "deviation of manual digit 1",
+ "Abnormal morphology of the radius",
+ "Deviation of the hand or of fingers of the hand",
+ "deviation of manual digit",
"Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
+ "cardiovascular system morphology phenotype",
+ "decreased size of the skeletal element",
+ "reproductive organ phenotype",
+ "viscus",
+ "circulatory organ",
+ "heart morphology phenotype",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "tube",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "arm bone phenotype",
"delayed growth",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased size of the multicellular organism",
+ "regulation of cellular process",
+ "decreased height of the anatomical entity",
+ "growth phenotype",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth",
],
},
{
- "id": "MONDO:0012565",
+ "id": "MONDO:0013499",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group N",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.",
+ "name": "Fanconi anemia complementation group P",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
"provided_by": "phenio_nodes",
- "xref": [
- "DOID:0111094",
- "GARD:15500",
- "MEDGEN:372133",
- "MESH:C563657",
- "OMIM:610832",
- "UMLS:C1835817",
- ],
+ "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"],
"synonym": [
- "FANCN",
- "Fanconi Anemia, complementation group type N",
- "Fanconi anaemia caused by mutation in PALB2",
- "Fanconi anaemia complementation group type N",
- "Fanconi anemia caused by mutation in PALB2",
- "Fanconi anemia complementation group N",
- "Fanconi anemia complementation group type N",
- "Fanconi anemia, complementation group N",
- "PALB2 Fanconi anaemia",
- "PALB2 Fanconi anemia",
+ "FANCP",
+ "Fanconi Anemia, complementation group type P",
+ "Fanconi anaemia caused by mutation in SLX4",
+ "Fanconi anaemia caused by mutation in Slx4",
+ "Fanconi anaemia complementation group type P",
+ "Fanconi anemia caused by mutation in SLX4",
+ "Fanconi anemia caused by mutation in Slx4",
+ "Fanconi anemia complementation group type P",
+ "Fanconi anemia, complementation group P",
+ "SLX4 Fanconi anaemia",
+ "SLX4 Fanconi anemia",
+ "Slx4 Fanconi anaemia",
+ "Slx4 Fanconi anemia",
],
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+ "Squamous cell carcinoma",
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"Hypoplasia of the radius",
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"Cafe-au-lait spot",
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+ "Anemia",
+ "Short palpebral fissure",
"Horseshoe kidney",
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- "Anal atresia",
- "Epicanthus",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Short stature",
+ "Hearing impairment",
+ "Vitiligo",
],
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+ ],
+ "has_phenotype_closure_label": [
+ "ear",
+ "sensory perception",
+ "sense organ physiology phenotype",
+ "decreased nervous system process",
+ "decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "material anatomical entity physiology phenotype",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "multicellular organismal process",
+ "decreased sensory perception of sound",
+ "decreased qualitatively system process",
+ "nervous system process phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "multicellular organismal process phenotype",
+ "sensory perception phenotype",
+ "Hearing abnormality",
+ "system process",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "multicellular anatomical structure physiology phenotype",
+ "ear physiology phenotype",
+ "vestibulo-auditory system",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
+ "nervous system process",
+ "Hearing impairment",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
+ "size of multicellular organism phenotype",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Abnormal cellular physiology",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "3-D shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "shape anatomical entity",
+ "Horseshoe kidney",
+ "decreased size of the anatomical conduit",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased sensory perception",
+ "decreased length of orifice",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "biological_process rate phenotype",
+ "pigmentation",
+ "increased qualitatively biological_process",
+ "Localized skin lesion",
+ "Hypermelanotic macule",
+ "Hyperpigmentation of the skin",
+ "regulation of cellular metabolic process",
+ "pigmentation phenotype",
+ "Cafe-au-lait spot",
+ "Macule",
+ "nose phenotype",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the nose",
+ "nose",
+ "increased size of the organ",
+ "olfactory organ",
+ "immaterial anatomical entity",
+ "external nose morphology phenotype",
+ "increased size of the sense organ",
+ "Abnormal nasal tip morphology",
+ "nose tip morphology phenotype",
+ "increased size of the anatomical structure",
+ "external nose",
+ "increased size of the organism subdivision",
+ "sense organ phenotype",
+ "Abnormality of chromosome stability",
+ "immaterial entity",
+ "increased volume of nose",
+ "Abnormal external nose morphology",
+ "upper urinary tract phenotype",
+ "abdomen element phenotype",
+ "renal system",
+ "excretory system",
+ "trunk",
+ "abdominal segment element",
+ "Abnormality of the kidney",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "compound organ phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "localised trunk region element",
+ "Abnormal localization of kidney",
+ "cavitated compound organ phenotype",
+ "renal system phenotype",
+ "Abnormal renal morphology",
+ "Abnormality of the upper urinary tract",
+ "abdomen element",
+ "process",
+ "occurrent",
+ "growth phenotype",
+ "kidney",
+ "Growth delay",
+ "delayed biological_process",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "decreased length of digit 1",
+ "Short digit",
+ "decreased length of manual digit 1 or 5",
+ "Short thumb",
+ "decreased length of manual digit",
+ "decreased size of the organism subdivision",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "multicellular organism phenotype",
+ "decreased length of anatomical conduit",
+ "external genitalia phenotype",
+ "Abnormal external genitalia",
+ "localised testis",
+ "external male genitalia phenotype",
+ "male reproductive organ phenotype",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "reproductive structure",
+ "localised material anatomical entity",
+ "genitourinary system",
+ "reproductive system",
+ "gonad phenotype",
+ "reproductive system phenotype",
+ "external genitalia",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "localised male reproductive organ",
+ "localised organ",
+ "multicellular organism morphology phenotype",
+ "sensory system",
+ "craniocervical region phenotype",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "Growth abnormality",
+ "axial skeletal system",
+ "head phenotype",
+ "skeleton phenotype",
+ "organism",
+ "Neoplasm of the skin",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "decreased length of bone of pectoral complex",
+ "nose tip",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region",
+ "Abnormal morphology of the radius",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased multicellular organismal process",
+ "root",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "forebrain morphology phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "central nervous system morphology phenotype",
+ "Abnormality of the nervous system",
+ "anatomical conduit phenotype",
+ "postcranial axial skeleton",
+ "number of hematopoietic cell phenotype",
+ "nervous system phenotype",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "anatomical conduit",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "Eumetazoa",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "Neoplasm",
+ "ectoderm-derived structure phenotype",
+ "skin of body phenotype",
+ "negative regulation of metabolic process",
+ "shape kidney",
+ "manual digit 1 or 5",
+ "nervous system morphology phenotype",
+ "digit 1 phenotype",
+ "digit phenotype",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "visual system",
+ "kidney morphology phenotype",
+ "postcranial axial skeletal system",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "subdivision of skeletal system phenotype",
+ "renal system morphology phenotype",
+ "radius bone morphology phenotype",
+ "Abnormal myeloid cell morphology",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "facial skeleton",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "membrane bone phenotype",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "endochondral bone phenotype",
+ "absent material anatomical entity in the limb",
+ "dermal bone",
+ "size of anatomical entity phenotype",
+ "Abnormality of skin pigmentation",
+ "bone of jaw phenotype",
+ "phenotypic effect",
+ "autopod region morphology phenotype",
+ "cellular organisms",
+ "number of cell phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "mouth",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "Bulbous nose",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
+ "anterior region of body",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "decreased number of anatomical structure",
+ "head bone phenotype",
+ "skeleton of pectoral complex",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "decreased length of endochondral bone",
+ "compound organ",
+ "eye",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "decreased size of the palpebral fissure",
+ "cranial skeletal system",
+ "multicellular anatomical structure phenotype",
+ "bone element phenotype",
+ "dermatocranium",
+ "pectoral complex",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "head",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "forebrain",
+ "regional part of brain phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "orbital region phenotype",
+ "skeleton of limb",
+ "skin of body morphology phenotype",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "integument phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "bone marrow cell",
+ "bone of pectoral complex phenotype",
+ "increased size of the ectoderm-derived structure",
+ "localised kidney",
+ "absent anatomical structure",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "appendicular skeleton",
+ "upper limb segment",
+ "arm phenotype",
+ "hematopoietic system",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "anatomical system phenotype",
+ "sense organ",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "skeleton of manus",
+ "musculoskeletal system",
+ "Aplasia/Hypoplasia of facial bones",
+ "phenotype",
+ "Abnormal cell morphology",
+ "head bone morphology phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "autopodial extension phenotype",
+ "manual digit",
+ "subdivision of trunk",
+ "Abnormal thumb morphology",
+ "continuant",
+ "entire sense organ system",
+ "absent material anatomical entity in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "limb segment phenotype",
+ "Abnormal cerebral morphology",
+ "arm bone",
+ "absent organism subdivision in the multicellular organism",
+ "autopod region phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "motile cell",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "Hypoplasia of the radius",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "decreased size of the ectoderm-derived structure",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of the mandible",
+ "mesoderm-derived structure phenotype",
+ "neoplasm phenotype",
+ "aplasia or hypoplasia of mandible",
+ "bone element",
+ "intramembranous bone phenotype",
+ "lateral structure",
+ "Squamous cell carcinoma",
+ "mesoderm-derived structure",
+ "organ system subdivision",
+ "erythrocyte",
+ "musculature",
+ "regional part of brain",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "forelimb endochondral element",
+ "Abnormality of the skin",
+ "paired limb/fin phenotype",
+ "taxon specific phenotype",
+ "regional part of nervous system phenotype",
+ "skeletal element",
+ "regulation of biosynthetic process phenotype",
+ "zeugopod",
+ "absent manual digit",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "nose morphology phenotype",
+ "Pelvic kidney",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "independent continuant",
+ "facial skeleton morphology phenotype",
+ "aplastic manual digit 1",
+ "dentary",
+ "anatomical entity morphology in the manus phenotype",
+ "segment of autopod",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "limb bone morphology phenotype",
+ "palpebral fissure",
+ "decreased size of the forelimb endochondral element",
+ "bone element hypoplasia in face",
+ "Abnormal forebrain morphology",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "size of skull phenotype",
+ "Abnormal facial skeleton morphology",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone cell",
+ "bone of appendage girdle complex phenotype",
+ "structure with developmental contribution from neural crest",
+ "bone of craniocervical region",
+ "abdomen",
+ "manual digit 1 plus metapodial segment",
+ "dermal skeletal element phenotype",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "Abnormal digit morphology",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "pectoral appendage skeleton",
+ "Vitiligo",
+ "Short palpebral fissure",
+ "decreased size of the limb endochondral element",
+ "acropodium region",
+ "bone marrow",
+ "dermal skeletal element",
+ "subdivision of organism along main body axis",
+ "kidney phenotype",
+ "skeletal system morphology phenotype",
+ "manus",
+ "increased size of the material anatomical entity",
+ "increased size of the anatomical entity",
+ "limb",
+ "Neoplasm by anatomical site",
+ "Abnormality of the upper limb",
+ "Abnormality of limbs",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "body proper",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Microcephaly",
+ "multi-tissue structure phenotype",
+ "Abnormality of the musculoskeletal system",
+ "increased size of the nose",
+ "Abnormal cellular immune system morphology",
+ "absent multicellular anatomical structure in the limb",
+ "digit morphology phenotype",
+ "Abnormality of the ocular adnexa",
+ "decreased number of cell",
+ "Micrognathia",
+ "Abnormal mandible morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "Hypoplastic facial bones",
+ "Abnormal axial skeleton morphology",
+ "erythroid lineage cell",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "absent organism subdivision",
+ "skeleton",
+ "immune system phenotype",
+ "anatomical collection phenotype",
+ "quality",
+ "decreased number of platelet",
+ "organ physiology phenotype",
+ "Abnormal nasal morphology",
+ "absent anatomical entity in the multicellular organism",
+ "absent autopodial extension",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "bone of appendage girdle complex",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "digit 1 plus metapodial segment",
+ "telencephalon morphology phenotype",
+ "integumental system",
+ "absent anatomical entity",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "musculature phenotype",
+ "aplasia or hypoplasia of skull",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "digit 1 or 5 phenotype",
+ "telencephalon",
+ "multi-limb segment region",
+ "regulation of gene expression phenotype",
+ "system",
+ "brain morphology phenotype",
+ "Abnormality of the integument",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "brain",
+ "regional part of nervous system",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "facial bone hypoplasia",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "decreased number of hematopoietic cell",
+ "skeleton of lower jaw",
+ "Abnormal brain morphology",
+ "testis phenotype",
+ "mandible",
+ "location of anatomical entity phenotype",
+ "limb skeleton subdivision",
+ "skull",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "primary subdivision of cranial skeletal system",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "increased biological_process in skin of body",
+ "localised anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "Anemia",
+ "Abnormality of the hand",
+ "radius bone",
+ "Limb undergrowth",
+ "radius endochondral element",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "camera-type eye",
+ "decreased length of skeletal element",
+ "Abnormality of the orbital region",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "forelimb zeugopod",
+ "decreased size of the bone of pectoral complex",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormality of the immune system",
+ "regulation of macromolecule biosynthetic process",
+ "multicellular organism",
+ "Thrombocytopenia",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased length of anatomical structure",
+ "renal/urinary system phenotype",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "axial skeleton plus cranial skeleton",
+ "decreased size of the limb bone",
+ "oxygen accumulating cell",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "appendage girdle complex",
+ "subdivision of head",
+ "decreased length of multicellular anatomical structure",
+ "digestive system element",
+ "radius bone phenotype",
+ "Abnormality of the head",
+ "multi organ part structure phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "decreased length of mesoderm-derived structure",
+ "decreased length of forelimb zeugopod bone",
+ "size of palpebral fissure phenotype",
+ "forelimb bone phenotype",
+ "Short forearm",
+ "regulation of cellular biosynthetic process phenotype",
+ "subdivision of digestive tract",
+ "decreased length of material anatomical entity",
+ "neural crest-derived structure",
+ "digestive system element phenotype",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "decreased size of the forelimb bone",
+ "Abnormal size of the palpebral fissures",
+ "delayed growth",
+ "arm bone phenotype",
+ "sensory perception of mechanical stimulus",
+ "skin of body",
+ "Abnormal upper limb bone morphology",
+ "decreased size of the arm bone",
+ "Abnormality of the genitourinary system",
+ "blood cell",
+ "head bone",
+ "decreased size of the bone of appendage girdle complex",
+ "bone of craniocervical region phenotype",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "increased volume of anatomical entity",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "membrane bone",
+ "bone of pectoral complex morphology phenotype",
+ "organ",
+ "decreased size of the anatomical structure",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "olfactory organ phenotype",
+ "reproductive organ",
+ "Short long bone",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "face morphology phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "dermal skeleton",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "multi organ part structure",
+ "multi-limb segment region phenotype",
+ "hemolymphoid system",
+ "male reproductive organ",
+ "disconnected anatomical group",
+ "eyelid morphology phenotype",
+ "orifice phenotype",
+ "palpebral fissure phenotype",
+ "non-connected functional system",
+ "orifice",
+ "decreased size of the endochondral element",
+ "orbital region",
+ "Blepharophimosis",
+ "face phenotype",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the palpebral fissures",
+ "ocular adnexa phenotype",
+ "Abnormal eyelid morphology",
+ "Abnormal ocular adnexa morphology",
+ "decreased system process",
+ "organ part",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "eyelid",
+ "ocular adnexa",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "Abnormality of the face",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "reproductive structure phenotype",
+ "nucleate cell",
+ "eukaryotic cell",
+ "craniofacial/craniocervical phenotype",
+ "serotonin secreting cell",
+ "anatomical point",
+ "decreased number of anatomical entity",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "decreased length of long bone",
+ "anatomical entity morphology phenotype",
+ "digestive system",
+ "platelet",
+ "Ectopic kidney",
+ "immune system morphology phenotype",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
+ "Abnormal cellular phenotype",
+ "integument",
+ "platelet phenotype",
+ "number of myeloid cell phenotype",
+ "number of platelet phenotype",
+ "Abnormal immune system morphology",
+ "decreased number of material anatomical entity",
+ "decreased number of myeloid cell",
+ "decreased size of the multicellular organism",
+ "Abnormality of skull size",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormal bone marrow cell morphology",
+ "digestive system phenotype",
+ "Abnormal platelet count",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "limb bone phenotype",
+ "secretory cell",
+ "hematopoietic system phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "tissue",
+ "leukocyte",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "upper urinary tract",
+ "decreased length of digit",
+ "Abnormality of the male genitalia",
+ "manual digitopodium region",
+ "Abnormality of blood and blood-forming tissues",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "decreased length of organism subdivision",
+ "bone of lower jaw",
+ "mandible hypoplasia",
+ "anatomical structure physiology phenotype",
+ "facial bone phenotype",
+ "Abnormality of the digestive system",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "digestive system morphology phenotype",
+ "decreased size of the autopodial extension",
+ "Abnormal jaw morphology",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "increased size of the olfactory organ",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "cell phenotype",
+ "anatomical entity hypoplasia in face",
+ "skull phenotype",
+ "Abnormal digestive system morphology",
+ "decreased length of limb endochondral element",
+ "dentary phenotype",
+ "jaw skeleton morphology phenotype",
+ "digestive tract",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "bone of jaw",
+ "manus morphology phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "biological_process",
+ "genitourinary system phenotype",
+ "mouth morphology phenotype",
+ "neural crest-derived structure phenotype",
+ "decreased size of the orifice",
+ "immune system",
+ "facial bone",
+ "gonad",
+ "localised gonad",
+ "Upper limb undergrowth",
+ "Abnormality of thrombocytes",
+ "jaw skeleton",
+ "lateral structure phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "mandible phenotype",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "mandible morphology phenotype",
+ "bone of lower jaw phenotype",
+ "Abnormality of body height",
+ "tube",
+ "mouth phenotype",
+ "localised abdominal segment element",
+ "primary subdivision of skull",
+ "absent anatomical structure in the limb",
+ "dermal bone phenotype",
+ "subdivision of tube phenotype",
+ "Abnormal oral morphology",
+ "cell",
+ "Abnormality of the mouth",
+ "lower jaw region",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "jaw region",
+ "localised anatomical structure",
+ "Abnormal reproductive system morphology",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "intramembranous bone",
+ "Abnormality of the genital system",
+ "testis",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "Cryptorchidism",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "male reproductive system",
+ ],
+ },
+ {
+ "id": "MONDO:0024525",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 1",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "synonym": [
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0001942",
+ "HP:0003648",
+ "HP:0003155",
+ "HP:0002148",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0002900",
+ "HP:0002748",
+ "HP:0034359",
+ "HP:0003076",
+ "HP:0000083",
+ "HP:0003355",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Metabolic acidosis",
+ "Lacticaciduria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Hypokalemia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ ],
+ "has_phenotype_count": 16,
+ "has_phenotype_closure": [
+ "UPHENO:0002359",
+ "HP:0003011",
+ "UPHENO:0080555",
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+ "CHEBI:60242",
+ "CHEBI:36586",
+ "CHEBI:33521",
+ "CHEBI:24835",
+ "UPHENO:0034253",
+ "UBERON:0005090",
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+ "BFO:0000004",
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+ "CHEBI:33302",
+ "UPHENO:0002269",
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- "UPHENO:0002905",
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+ ],
+ "has_phenotype_closure_label": [
+ "decreased muscle organ strength",
+ "muscle structure physiology phenotype",
+ "muscle structure phenotype",
+ "Abnormality of the musculature",
+ "muscle organ physiology phenotype",
+ "muscle organ",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "growth",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Renal insufficiency",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "organooxygen compound",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal absorption",
+ "renal absorption phenotype",
+ "Abnormality of renal excretion",
+ "renal system process",
+ "cation",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "carbon oxoacid",
+ "Abnormal blood potassium concentration",
+ "role bodily fluid level phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "potassium atom level phenotype",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "protein",
+ "macromolecule",
+ "organic molecular entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "heteroatomic molecular entity",
+ "tube phenotype",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "organic amino compound",
+ "material entity",
+ "Abnormality of alkaline phosphatase level",
+ "excretory system",
+ "abdomen element phenotype",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "polyatomic entity",
+ "racemate",
+ "renal system physiology phenotype",
+ "rac-lactic acid",
+ "amide",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "chemical substance",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "renal system phenotype",
+ "metal atom",
+ "Abnormality of the urinary system physiology",
+ "increased level of chemical entity in urine",
+ "increased urine role level",
+ "decreased anatomical entity strength",
+ "mixture",
+ "epithelial tube",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "chemical entity",
+ "Short stature",
+ "inorganic molecular entity",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "increased level of chemical entity",
+ "inorganic cation",
+ "alkali metal atom",
+ "bone element mass density phenotype",
+ "Abnormal blood cation concentration",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "Abnormal skeletal morphology",
+ "skeletal system phenotype",
+ "carbon group molecular entity",
+ "main group molecular entity",
+ "Elevated circulating alkaline phosphatase concentration",
+ "protein polypeptide chain",
+ "system process phenotype",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "skeletal element",
+ "cavitated compound organ",
+ "mesoderm-derived structure",
+ "Abnormal urinary electrolyte concentration",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "Abnormal muscle physiology",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "Abnormal enzyme concentration or activity",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
+ "Abnormality of the musculoskeletal system",
+ "musculature of body",
+ "Abnormal bone structure",
+ "anatomical system",
+ "role urine level phenotype",
+ "muscle structure",
+ "material anatomical entity",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "multicellular organismal process phenotype",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "main group element atom",
+ "Abnormal renal tubular resorption",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "Hypokalemia",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "Reduced bone mineral density",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "Abnormality of the skeletal system",
+ "Impaired renal tubular reabsorption of phosphate",
+ "hematopoietic system",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "protein-containing molecular entity",
+ "tissue phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "Abnormal circulating enzyme concentration or activity",
+ "organism subdivision",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "process",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "Lacticaciduria",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "decreased size of the anatomical entity",
+ "blood",
+ "heteroorganic entity",
+ "multicellular organismal process",
+ "Muscle weakness",
+ "organ part",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "anatomical entity height phenotype",
+ "atom",
+ "carbohydrate",
+ "biological_process",
+ "renal tubule",
+ "nitrogen molecular entity",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
+ "musculoskeletal system",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "excretory tube phenotype",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "homeostatic process phenotype",
+ "trunk region element physiology phenotype",
+ "material anatomical entity physiology phenotype",
+ "urine phosphate level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "information biomacromolecule",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "organic acid",
+ "ossification",
+ "Abnormal circulating metabolite concentration",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "organ physiology phenotype",
+ "main body axis",
+ "organism substance",
+ "Rickets",
+ "hemolymphoid system",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "decreased functionality of the epithelial tube",
+ "haemolymphatic fluid",
+ "phosphate",
+ "primary amide",
+ "elemental molecular entity",
+ "ion",
+ "increased level of rac-lactic acid in urine",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
+ "hematopoietic system phenotype",
+ "quality",
+ "phosphoric acid derivative",
+ "Abnormal urine carboxylic acid level",
+ "system process",
+ "decreased level of chemical entity",
+ "decreased level of chemical entity in blood",
+ "genitourinary system phenotype",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "trunk",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate level phenotype",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "monoatomic entity",
+ "subdivision of trunk",
+ "decreased functionality of the nephron tubule",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "kidney physiology phenotype",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
+ "lateral structure",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "epithelium",
+ "decreased functionality of the tube",
+ "Abnormality of the upper urinary tract",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "abdominal segment of trunk",
+ "abdomen",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
+ "excretory tube",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "renal system process phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "kidney",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "s-block element atom",
+ "musculature",
+ "decreased role blood level",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "role blood level phenotype",
+ "monovalent inorganic cation",
+ ],
+ },
+ {
+ "id": "MONDO:0014985",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group V",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "synonym": [
+ "FANCV",
+ "Fanconi Anemia, complementation Group 5",
+ "Fanconi Anemia, complementation group V",
+ "Fanconi Anemia, complementation group type V",
+ "Fanconi anaemia caused by mutation in MAD2L2",
+ "Fanconi anaemia complementation group type V",
+ "Fanconi anemia caused by mutation in MAD2L2",
+ "Fanconi anemia complementation group type V",
+ "Fanconi anemia, complementation GROUP V",
+ "MAD2L2 Fanconi anaemia",
+ "MAD2L2 Fanconi anemia",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001875",
+ "HP:0000252",
+ "HP:0001873",
+ "HP:0005528",
+ "HP:0006254",
+ "HP:0003221",
+ "HP:0001903",
+ "HP:0004322",
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Microcephaly",
+ "Thrombocytopenia",
+ "Bone marrow hypocellularity",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Anemia",
+ "Short stature",
+ ],
+ "has_phenotype_count": 8,
+ "has_phenotype_closure": [
+ "UPHENO:0000543",
+ "HP:0000002",
+ "GO:0040007",
+ "HP:0001510",
+ "HP:0001507",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0002949",
+ "UPHENO:0069266",
+ "UPHENO:0049874",
+ "HP:0001877",
+ "HP:0012130",
+ "CL:0000329",
+ "UPHENO:0088162",
+ "GO:0005623",
+ "UPHENO:0049757",
+ "UPHENO:0050007",
+ "UPHENO:0050126",
+ "GO:0010468",
+ "GO:0010558",
+ "GO:0031327",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "GO:0050794",
+ "GO:0019222",
+ "GO:0048519",
+ "GO:0060255",
+ "GO:0048523",
+ "UPHENO:0050025",
+ "UPHENO:0050435",
+ "UPHENO:0049868",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0031049",
+ "UPHENO:0078606",
+ "GO:0031052",
+ "GO:0009890",
+ "GO:0031324",
+ "HP:0003221",
+ "GO:0010629",
+ "UPHENO:0050040",
+ "CL:0000764",
+ "UPHENO:0050778",
+ "UPHENO:0081566",
+ "HP:0006254",
+ "UPHENO:0076799",
+ "UBERON:0000481",
+ "HP:0000152",
+ "UPHENO:0087907",
+ "GO:0031323",
"UBERON:0011138",
- "CL:0000738",
- "UBERON:0001016",
- "UPHENO:0004459",
+ "UPHENO:0000541",
+ "HP:0001874",
+ "UPHENO:0069327",
+ "UBERON:0010323",
+ "HP:0012145",
+ "UPHENO:0088170",
+ "UPHENO:0001001",
+ "CHEBI:37622",
+ "HP:0040195",
+ "UPHENO:0001003",
+ "GO:0010556",
+ "PR:000050567",
+ "UPHENO:0080010",
+ "HP:0001911",
+ "UPHENO:0002764",
+ "PATO:0000001",
+ "UPHENO:0075159",
+ "HP:0100547",
+ "UPHENO:0075804",
+ "UPHENO:0086019",
+ "UPHENO:0011498",
+ "UPHENO:0077822",
+ "UPHENO:0087123",
+ "HP:0011842",
+ "UPHENO:0076703",
+ "UPHENO:0063794",
+ "UPHENO:0049904",
+ "UPHENO:0077391",
+ "HP:0032251",
+ "UBERON:0001474",
+ "HP:0002011",
+ "UPHENO:0003004",
+ "UBERON:0002204",
+ "UPHENO:0049743",
+ "UPHENO:0001002",
+ "UBERON:0001434",
+ "UPHENO:0077418",
+ "UPHENO:3000000",
+ "HP:0009121",
+ "BFO:0000004",
+ "CHEBI:36962",
"UPHENO:0002948",
+ "CHEBI:33256",
+ "UPHENO:0076805",
+ "HP:0025461",
"UBERON:0034923",
- "UPHENO:0086172",
+ "UBERON:0004288",
+ "UPHENO:0081423",
+ "UBERON:0015203",
+ "CHEBI:36963",
+ "UPHENO:0002816",
+ "HP:0000001",
+ "UPHENO:0085356",
+ "UPHENO:0002530",
+ "UBERON:0001893",
+ "UPHENO:0077399",
+ "UBERON:0001015",
+ "UPHENO:0077817",
+ "CL:0002242",
+ "UPHENO:0076675",
+ "UPHENO:0003025",
"HP:0001871",
- "HP:0011017",
- "UPHENO:0012312",
+ "CL:0000000",
+ "UPHENO:0086016",
+ "UBERON:0004121",
+ "NCBITaxon:2759",
+ "UPHENO:0080352",
+ "UBERON:0000179",
"UBERON:0002405",
- "UPHENO:0002969",
- "HP:0001172",
+ "GO:0009892",
+ "GO:0010605",
+ "UPHENO:0080079",
+ "UPHENO:0077348",
+ "UPHENO:0002525",
+ "GO:0065007",
+ "HP:0010974",
+ "UPHENO:0002553",
+ "HP:0012443",
+ "UBERON:0011216",
+ "HP:0040012",
+ "UBERON:0004765",
+ "UBERON:0000467",
+ "UBERON:0000061",
+ "UPHENO:0085344",
+ "HP:0001881",
+ "UPHENO:0063722",
+ "HP:0001872",
+ "HP:0032180",
+ "HP:0000924",
+ "HP:0010987",
+ "UBERON:0000383",
+ "CL:0000766",
+ "UBERON:0011137",
+ "BFO:0000020",
+ "HP:0430071",
+ "UPHENO:0002963",
"HP:0002715",
- "UPHENO:0010808",
- "HP:0011314",
- "HP:0032251",
- "HP:0004323",
- "HP:0001518",
- "UBERON:0002091",
- "UPHENO:0054304",
+ "UPHENO:0002736",
+ "CL:0001035",
+ "UBERON:0002193",
+ "CL:0002092",
+ "HP:0020047",
+ "HP:0011893",
+ "GO:0009889",
+ "UPHENO:0002548",
+ "PR:000064867",
+ "HP:0033127",
+ "UBERON:0000062",
+ "CL:0000219",
+ "UPHENO:0080200",
+ "UBERON:0001890",
+ "UBERON:0000468",
+ "UPHENO:0085371",
+ "CL:0000457",
+ "HP:0025354",
+ "UBERON:0000178",
+ "UBERON:0000033",
+ "HP:0001875",
+ "UPHENO:0002964",
+ "UPHENO:0004459",
+ "CL:0000233",
+ "UPHENO:0080351",
+ "UPHENO:0076286",
+ "UBERON:0004120",
+ "HP:0000118",
+ "UPHENO:0011536",
+ "UBERON:0002371",
+ "NCBITaxon:33208",
+ "UPHENO:0076692",
+ "UPHENO:0002536",
+ "UPHENO:0088166",
+ "BFO:0000001",
+ "UPHENO:0002554",
+ "CL:0000081",
+ "CHEBI:35352",
+ "UPHENO:0006894",
+ "UBERON:0010314",
+ "UBERON:0001062",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "UBERON:0003129",
+ "CL:0000738",
+ "UBERON:0000479",
+ "CL:0000255",
+ "UPHENO:0051612",
+ "UPHENO:0085354",
+ "PR:000018263",
+ "CHEBI:15841",
+ "UPHENO:0049775",
+ "HP:0032309",
+ "HP:0033405",
+ "BFO:0000040",
+ "UPHENO:0063787",
+ "UBERON:0002390",
+ "UBERON:0010000",
+ "HP:0000252",
+ "CL:0000763",
+ "CL:0000458",
+ "NCBITaxon:6072",
"GO:0031326",
+ "UBERON:0002090",
+ "CHEBI:23367",
+ "UPHENO:0003001",
+ "UPHENO:0002746",
+ "UPHENO:0086176",
+ "UPHENO:0004523",
+ "NCBITaxon:131567",
+ "HP:0005561",
+ "UBERON:0000153",
+ "HP:0011991",
+ "UPHENO:0002902",
+ "UPHENO:0076791",
+ "UPHENO:0086589",
+ "UBERON:0011676",
+ "CHEBI:36357",
+ "UBERON:0001016",
+ "GO:0050789",
+ "UBERON:0013701",
+ "UPHENO:0050784",
+ "CL:0000094",
+ "HP:0007364",
+ "CHEBI:24431",
+ "NCBITaxon:33154",
+ "CL:0000988",
+ "HP:0002060",
+ "UPHENO:0087518",
+ "OBI:0100026",
+ "CHEBI:33304",
+ "UBERON:0013702",
+ "HP:0001873",
+ "UBERON:0007811",
+ "HP:0000234",
+ "UPHENO:0076702",
+ "UPHENO:0075195",
+ "HP:0000240",
+ "UBERON:0000475",
+ "UPHENO:0051804",
+ "UPHENO:0046383",
+ "BFO:0000002",
+ "HP:0012639",
+ "UPHENO:0089764",
+ "CL:0000775",
+ "UBERON:0000075",
+ "CL:0000225",
+ "UBERON:0010912",
+ "HP:0000929",
+ "UBERON:0000955",
+ "UBERON:0000073",
+ "UPHENO:0086172",
+ "HP:0000707",
+ "UPHENO:0002926",
+ "UPHENO:0069254",
+ "UPHENO:0075220",
+ "UPHENO:0086173",
+ "HP:0011875",
+ "HP:0002977",
+ "UPHENO:0089759",
+ "UPHENO:0085302",
+ "UPHENO:0077373",
+ "CL:0000151",
+ "CL:0000232",
+ "UPHENO:0011531",
+ "HP:0011873",
+ "HP:0005528",
+ "UPHENO:0002844",
+ "UPHENO:0049587",
+ "UPHENO:0085330",
+ "GO:0008152",
+ "UBERON:0000463",
+ "UPHENO:0081581",
+ "CHEBI:32988",
+ "CHEBI:33285",
+ "UBERON:0001017",
+ "UPHENO:0081547",
+ "CHEBI:33694",
+ "UPHENO:0077826",
+ "PR:000003809",
+ "UPHENO:0046378",
+ "NCBITaxon:1",
+ "CHEBI:33302",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "CHEBI:16670",
+ "CHEBI:50047",
+ "UPHENO:0049620",
+ "UBERON:0006314",
+ "CHEBI:36080",
+ "UBERON:0002616",
+ "UPHENO:0048751",
+ "UPHENO:0051763",
"BFO:0000003",
+ "UPHENO:0046284",
+ "HP:0045056",
+ "CHEBI:33579",
+ "UPHENO:0048707",
+ "BFO:0000015",
+ "CHEBI:33839",
+ "HP:0011017",
+ "UPHENO:0002976",
+ "PR:000000001",
+ "CHEBI:33675",
+ "HP:0001903",
+ "UBERON:0005944",
+ "UBERON:0034925",
+ "UPHENO:0088176",
+ "GO:0042592",
+ "CHEBI:16541",
+ "UPHENO:0068971",
+ "CHEBI:33695",
+ "CHEBI:51143",
+ "CHEBI:50860",
+ "CHEBI:25806",
+ "HP:0001939",
+ "GO:0008150",
+ "HP:0010876",
+ "HP:0004364",
],
"has_phenotype_closure_label": [
- "increased length of the skin of eyelid",
- "increased length of the ectoderm-derived structure",
- "skin of face morphology phenotype",
- "increased size of the zone of organ",
- "increased size of the multicellular anatomical structure",
- "increased length of the material anatomical entity",
- "increased size of the material anatomical entity",
- "increased length of the multicellular anatomical structure",
- "zone of organ",
- "ocular adnexa",
- "eyelid phenotype",
- "increased length of the zone of organ",
- "epicanthal fold",
- "zone of organ phenotype",
- "zone of skin morphology phenotype",
- "skin of eyelid",
- "eyelid",
- "skin of head",
- "tube",
- "closing of the multicellular anatomical structure",
- "Abnormality of the digestive system",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus morphology phenotype",
- "ectoderm-derived structure atresia",
- "anatomical conduit phenotype",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "anatomical conduit",
- "absent abdomen element",
- "increased size of the anatomical structure",
- "number of anatomical enitites of type compound organ phenotype",
- "absent multicellular anatomical structure in the renal system",
- "absent kidney in the renal system",
- "absent abdomen element in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "Unilateral renal agenesis",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
- "closing of the anatomical conduit",
- "number of anatomical enitites of type kidney phenotype",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent lateral structure",
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "anus atresia",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "incomplete closing of the interventricular septum",
- "Abnormal ventricular septum morphology",
- "Abnormal cardiac ventricle morphology",
- "Localized skin lesion",
- "Hypermelanotic macule",
- "anatomical line",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "Hypertelorism",
- "non-material anatomical boundary",
- "absent organ",
- "increased size of the non-material anatomical boundary",
- "location of eyeball of camera-type eye phenotype",
- "anatomical line between pupils",
- "increased size of the anatomical entity",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical entity",
- "increased length of the anatomical line",
- "multi organ part structure",
- "non-material anatomical boundary phenotype",
- "eyelid morphology phenotype",
- "integumental system",
- "increased biological_process in skin of body",
- "increased pigmentation",
- "increased biological_process",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "absent abdominal segment element in the renal system",
- "pigmentation phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "delayed growth",
- "Postnatal growth retardation",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the anatomical structure",
+ "growth",
+ "Short stature",
+ "decreased height of the anatomical entity",
"Growth delay",
- "Peripheral primitive neuroectodermal neoplasm",
- "Neuroepithelial neoplasm",
- "Neuroblastoma",
- "Neuroblastic tumor",
- "Primitive neuroectodermal tumor",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "Abnormal anus morphology",
- "regional part of nervous system",
- "organism",
- "increased size of the zone of skin",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "cardiac ventricle phenotype",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Nervous tissue neoplasm",
- "Abnormal cellular physiology",
- "negative regulation of macromolecule metabolic process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "absent trunk region element in the renal system",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "increased length of the skin of face",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
"delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the vertebral column",
- "Abnormal axial skeleton morphology",
- "digestive system morphology phenotype",
- "postcranial axial skeleton phenotype",
- "dorsum",
- "irregular bone phenotype",
- "cervical vertebra endochondral element",
- "shape anatomical entity",
- "trunk or cervical vertebra",
- "neck morphology phenotype",
- "Abnormal neck morphology",
- "irregular bone",
- "regulation of macromolecule metabolic process phenotype",
- "dorsal part of neck",
- "dorsal region element",
- "axial skeleton plus cranial skeleton phenotype",
- "Abnormality of the neck",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "subdivision of vertebral column",
- "cervical region",
- "decreased length of neck",
- "vertebral element phenotype",
- "decreased number of myeloid cell",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "skin of head morphology phenotype",
- "Abnormal myeloid cell morphology",
- "decreased number of cell",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "erythrocyte morphology phenotype",
+ "erythroid lineage cell morphology phenotype",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of gene expression",
+ "negative regulation of macromolecule biosynthetic process",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of cellular metabolic process",
"Chromosome breakage",
- "Abnormal platelet count",
- "bone marrow",
- "bone cell",
- "Abnormality of the anus",
- "oxygen accumulating cell",
- "anucleate cell",
- "secretory cell",
- "decreased number of material anatomical entity",
- "orifice atresia",
- "platelet phenotype",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "erythrocyte",
- "platelet",
+ "negative regulation of biological process phenotype",
+ "regulation of cellular process phenotype",
+ "negative regulation of gene expression phenotype",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "regulation of cellular biosynthetic process phenotype",
+ "programmed DNA elimination",
+ "aplasia or hypoplasia of telencephalon",
+ "multi-tissue structure",
+ "craniocervical region morphology phenotype",
+ "Abnormal neutrophil count",
+ "Abnormality of blood and blood-forming tissues",
+ "molecular entity",
"blood cell",
- "decreased number of platelet",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Thrombocytopenia",
- "erythroid lineage cell",
- "serotonin secreting cell",
- "tissue",
- "Abnormal cell morphology",
- "decreased number of anatomical entity",
- "Abnormal bone marrow cell morphology",
- "biological_process phenotype",
- "organ part",
- "endochondral bone phenotype",
- "Abnormal cardiac atrium morphology",
- "localised material anatomical entity",
- "abdomen element phenotype",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "decreased length of bone element",
- "skeletal element phenotype",
- "forelimb zeugopod bone hypoplasia",
+ "anatomical structure",
+ "musculature of body",
+ "nitrogen molecular entity",
+ "decreased size of the multicellular organism",
+ "telencephalon morphology phenotype",
+ "immune system morphology phenotype",
+ "multicellular organism height phenotype",
+ "cranial skeletal system",
+ "nucleate cell",
+ "postcranial axial skeletal system",
+ "multicellular anatomical structure phenotype",
+ "decreased number of granulocyte",
+ "negative regulation of biosynthetic process",
+ "blood cell phenotype",
+ "neutrophil",
+ "cell",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Morphological central nervous system abnormality",
+ "independent continuant",
+ "Abnormal granulocyte morphology",
+ "anatomical collection",
+ "nervous system phenotype",
+ "All",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "skull phenotype",
"biological regulation phenotype",
- "Abnormality of the nervous system",
- "ectoderm-derived structure",
- "Short neck",
- "Neoplasm by anatomical site",
- "decreased size of the arm bone",
- "neoplasm phenotype",
- "cardiac septum morphology phenotype",
- "localised multicellular anatomical structure",
+ "Abnormality of skull size",
+ "multicellular anatomical structure",
+ "Abnormal erythroid lineage cell morphology",
+ "leukocyte",
+ "material entity",
+ "organic amino compound",
+ "decreased number of material anatomical entity",
+ "hemolymphoid system",
+ "number of myeloid cell phenotype",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
"Abnormal nervous system morphology",
- "Abnormality of the cervical spine",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "Abnormality of blood and blood-forming tissues",
- "Neoplasm",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "manus morphology phenotype",
- "arm phenotype",
- "subdivision of skeleton phenotype",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "lateral structure phenotype",
- "Abnormal heart morphology",
- "decreased size of the material anatomical entity",
- "decreased length of bone of pectoral complex",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "anatomical entity morphology in the pectoral complex phenotype",
- "heart phenotype",
- "decreased length of bone of free limb or fin",
- "cervical region of vertebral column",
- "renal system",
- "absent organ in the renal system",
- "sense organ phenotype",
- "mesoderm-derived structure phenotype",
- "increased length of the anatomical structure",
- "absent material anatomical entity",
- "zeugopod",
- "arm bone phenotype",
- "regulation of cellular biosynthetic process",
- "Neoplasm by histology",
- "process",
- "aplasia or hypoplasia of anatomical entity",
- "skeleton",
- "organ phenotype",
- "trunk region element phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "skeleton phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased size of the forelimb endochondral element",
- "mesoderm-derived structure morphology in the heart phenotype",
- "autopodial skeleton",
- "increased length of the organ part",
- "subdivision of vertebral column phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "decreased length of anatomical structure",
- "cardiovascular system",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased length of skeletal element",
- "long bone phenotype",
- "Abnormal atrial septum morphology",
- "subdivision of skeletal system phenotype",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "Aplastic anemia",
- "face",
- "anatomical entity length phenotype",
- "appendage girdle complex",
- "zeugopod phenotype",
- "regulation of cellular process",
- "vertebral column",
- "Abnormal forearm morphology",
- "absent anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased size of the mesoderm-derived structure",
- "programmed DNA elimination",
- "system",
- "decreased length of endochondral element",
- "Short finger",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "Small for gestational age",
- "quality",
- "Upper limb undergrowth",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "trunk",
- "hematopoietic system phenotype",
- "size of anatomical entity phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "subdivision of head",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "Malignant neoplasm of the central nervous system",
- "incomplete closing of the cardiac septum",
- "Abnormality of globe location",
- "anatomical entity morphology in the heart phenotype",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "Limb undergrowth",
- "manual digit plus metapodial segment",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "circulatory organ",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "increased length of the epicanthal fold",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
+ "anatomical system phenotype",
+ "Neutropenia",
+ "musculoskeletal system",
+ "hematopoietic cell",
+ "decreased size of the anatomical entity",
+ "blood",
+ "growth phenotype",
+ "Abnormal granulocyte count",
+ "non-connected functional system",
+ "neutrophil phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "organism subdivision",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "negative regulation of gene expression",
"Phenotypic abnormality",
- "forelimb long bone",
- "arm",
- "skeleton of limb phenotype",
- "cardiac ventricle",
+ "blood organic molecular entity level phenotype",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "decreased number of hematopoietic cell",
+ "skull morphology phenotype",
+ "biological_process",
+ "granulocyte",
+ "skeletal system phenotype",
+ "Abnormal leukocyte morphology",
+ "decreased number of leukocyte",
+ "Abnormality of the skeletal system",
+ "decreased number of cell",
+ "erythrocyte",
+ "organ system subdivision",
+ "immune system",
+ "myeloid cell",
+ "organonitrogen compound",
+ "anatomical entity phenotype",
+ "root",
+ "chemical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "material anatomical entity",
+ "Abnormal platelet count",
+ "Decreased head circumference",
+ "Abnormal myeloid leukocyte morphology",
+ "skull",
+ "anatomical structure phenotype",
+ "Abnormality of the head",
+ "Abnormal forebrain morphology",
+ "Abnormality of the immune system",
+ "Thrombocytopenia",
+ "eukaryotic cell",
+ "hematopoietic system phenotype",
+ "ectoderm-derived structure phenotype",
+ "blood chemical entity level phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "Abnormal cellular immune system morphology",
+ "myeloid leukocyte",
+ "telencephalon phenotype",
+ "organic molecular entity",
+ "hematopoietic system",
+ "multicellular organism",
+ "primary amide",
+ "subdivision of organism along main body axis",
"material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity",
+ "disconnected anatomical group",
+ "bone marrow",
+ "immune system phenotype",
+ "skeleton",
+ "postcranial axial skeleton",
+ "number of hematopoietic cell phenotype",
+ "subdivision of skeletal system phenotype",
+ "Abnormal myeloid cell morphology",
+ "number of anatomical enitites of type neutrophil phenotype",
"Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Neuroectodermal neoplasm",
- "decreased length of endochondral bone",
- "increased length of the skin of head",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "camera-type eye",
- "All",
- "increased length of the zone of skin",
- "anatomical structure atresia",
+ "secretory cell",
+ "motile cell",
"skeletal system",
- "Embryonal renal neoplasm",
- "cardiac ventricle morphology phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "pnictogen molecular entity",
+ "Eumetazoa",
+ "Eukaryota",
+ "bone marrow cell",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "blood alpha-fetoprotein level phenotype",
+ "leukocyte morphology phenotype",
+ "decreased number of anatomical structure",
+ "regulation of gene expression phenotype",
+ "bone cell",
+ "polypeptide",
+ "Abnormal skeletal morphology",
+ "erythroid lineage cell",
+ "Abnormal axial skeleton morphology",
+ "Growth abnormality",
+ "programmed DNA elimination by chromosome breakage",
+ "size of skull phenotype",
+ "anatomical entity morphology phenotype",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "mesoderm-derived structure",
+ "macromolecule",
+ "granulocyte morphology phenotype",
+ "organism substance",
+ "taxon specific phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Bone marrow hypocellularity",
"skeletal element",
- "multi organ part structure phenotype",
- "cardiac septum phenotype",
- "appendicular skeleton phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
+ "regional part of nervous system phenotype",
+ "phenotype",
+ "Abnormal cell morphology",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "information biomacromolecule",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased number of anatomical entity",
+ "decreased number of platelet",
+ "quality",
"anatomical system",
- "forelimb endochondral element",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "zone of skin",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "decreased length of multicellular anatomical structure",
- "decreased size of the bone element",
- "absent abdominal segment element",
- "endochondral bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased size of the limb bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical structure",
- "increased size of the anatomical line",
- "myeloid lineage restricted progenitor cell",
- "absent compound organ",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "orifice",
- "anterior region of body",
- "hematopoietic lineage restricted progenitor cell",
- "cranial skeletal system",
- "Microphthalmia",
+ "Abnormality of thrombocytes",
+ "number of cell phenotype",
+ "cellular organisms",
+ "Abnormal brain morphology",
+ "polyatomic entity",
+ "Abnormality of neutrophils",
+ "multi-tissue structure phenotype",
"central nervous system",
- "absent kidney",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "musculoskeletal system",
- "limb segment",
- "organ",
- "skeleton of pectoral complex",
- "musculature of body phenotype",
- "increased length of the anatomical line between pupils",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "forelimb long bone phenotype",
+ "tissue",
+ "amino acid chain",
+ "craniocervical region",
+ "haemolymphatic fluid",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "homeostatic process phenotype",
+ "brain morphology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "protein-containing material entity",
+ "regional part of brain phenotype",
+ "forebrain",
+ "regional part of nervous system",
+ "organism",
+ "Microcephaly",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "head morphology phenotype",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "regulation of biological process",
"nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "radius bone morphology phenotype",
- "digitopodium region",
- "decreased size of the forelimb zeugopod bone",
- "interatrial septum",
+ "telencephalon",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "central nervous system morphology phenotype",
+ "axial skeletal system",
+ "specifically dependent continuant",
+ "Abnormal cerebral morphology",
+ "Metazoa",
+ "axial skeleton plus cranial skeleton",
+ "Abnormality of the nervous system",
+ "organism subdivision phenotype",
+ "role blood level phenotype",
"nervous system",
- "absent anatomical structure in the renal system",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "absent trunk region element",
- "decreased length of mesoderm-derived structure",
+ "anterior region of body",
+ "myeloid leukocyte phenotype",
+ "main body axis",
+ "decreased size of the material anatomical entity",
+ "biological_process phenotype",
"regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "Abnormal circulating metabolite concentration",
+ "multicellular organism morphology phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "blood protein polypeptide chain level phenotype",
+ "musculature",
+ "decreased number of neutrophil",
+ "regional part of brain",
+ "brain",
+ "subdivision of skeleton",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Opisthokonta",
+ "anucleate cell",
+ "platelet phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bodily fluid",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "blood organic amino compound level phenotype",
+ "biogenic amine secreting cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "forebrain morphology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "protein-containing molecular entity",
+ "negative regulation of cellular biosynthetic process",
+ "main group molecular entity",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal cellular physiology",
+ "increased level of chemical entity",
+ "head",
+ "chemical entity level phenotype",
+ "amide",
+ "number of leukocyte phenotype",
+ "platelet",
+ "organooxygen compound",
+ "peptide",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "body proper",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating nitrogen compound concentration",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "carbon group molecular entity",
+ "oxygen molecular entity",
+ "organochalcogen compound",
+ "serotonin secreting cell",
+ "homeostatic process",
+ "oxygen accumulating cell",
+ "protein",
+ "increased level of alpha-fetoprotein",
+ "Abnormal circulating alpha-fetoprotein concentration",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "heteroorganic entity",
+ "Abnormal platelet morphology",
+ "alpha-fetoprotein",
+ "chalcogen molecular entity",
+ "role bodily fluid level phenotype",
+ "metabolic process",
+ "continuant",
+ "protein polypeptide chain",
+ "alpha-fetoprotein level phenotype",
+ "organ",
+ "occurrent",
+ "regulation of biological process phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "Abnormal circulating protein concentration",
+ "decreased number of myeloid cell",
+ "Abnormal circulating organic amino compound concentration",
+ "process",
+ "craniocervical region phenotype",
+ "Elevated circulating alpha-fetoprotein concentration",
+ ],
+ },
+ {
+ "id": "MONDO:0014987",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group U",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0111085", "GARD:16215", "MEDGEN:934618", "OMIM:617247", "UMLS:C4310651"],
+ "synonym": [
+ "FANCU",
+ "Fanconi Anemia, complementation group U",
+ "Fanconi Anemia, complementation group type U",
+ "Fanconi anaemia caused by mutation in XRCC2",
+ "Fanconi anaemia complementation group type U",
+ "Fanconi anemia caused by mutation in XRCC2",
+ "Fanconi anemia complementation group type U",
+ "Fanconi anemia, complementation GROUP U",
+ "XRCC2 Fanconi anaemia",
+ "XRCC2 Fanconi anemia",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0002984",
+ "HP:0003974",
+ "HP:0001510",
+ "HP:0001643",
+ "HP:0012799",
+ "HP:0010035",
+ "HP:0011835",
+ ],
+ "has_phenotype_label": [
+ "Absent thumb",
+ "Chromosome breakage",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypoplasia of the radius",
+ "Absent radius",
+ "Growth delay",
+ "Patent ductus arteriosus",
+ "Unilateral facial palsy",
+ "Aplasia of the 1st metacarpal",
+ "Absent scaphoid",
+ ],
+ "has_phenotype_count": 11,
+ "has_phenotype_closure": [
+ "HP:0003019",
+ "UPHENO:0002619",
+ "UPHENO:0026314",
+ "UPHENO:0002723",
+ "UPHENO:0002696",
+ "HP:0009810",
+ "UPHENO:0009291",
+ "UPHENO:0002673",
+ "HP:0011835",
+ "UPHENO:0002973",
+ "UBERON:0009880",
+ "UPHENO:0009330",
+ "HP:0006502",
+ "UPHENO:0002835",
+ "HP:0001191",
+ "UPHENO:0080173",
+ "UBERON:0004770",
+ "UBERON:0017750",
+ "UPHENO:0009335",
+ "UBERON:0000982",
+ "UPHENO:0002858",
+ "UBERON:0001427",
+ "HP:0004231",
+ "UPHENO:0002590",
+ "UPHENO:0009367",
+ "UPHENO:0009430",
+ "HP:0004243",
+ "UBERON:0014395",
+ "UBERON:0015049",
+ "UBERON:0003656",
+ "UPHENO:0081524",
+ "UBERON:0015078",
+ "UPHENO:0026144",
+ "UPHENO:0003015",
+ "UPHENO:0025103",
+ "UPHENO:0026127",
+ "UPHENO:0026076",
+ "HP:0010048",
+ "UBERON:0001480",
+ "UPHENO:0025651",
+ "UPHENO:0076767",
+ "UPHENO:0002845",
+ "UPHENO:0002638",
+ "HP:0009851",
+ "UPHENO:0025593",
+ "UPHENO:0002950",
+ "HP:0005916",
+ "UPHENO:0026715",
+ "UPHENO:0025342",
+ "UPHENO:0084447",
+ "UPHENO:0025118",
+ "UPHENO:0026650",
+ "UPHENO:0026330",
+ "UPHENO:0084458",
+ "UBERON:0015063",
+ "UBERON:5106048",
+ "UBERON:0010688",
+ "UPHENO:0002613",
+ "UPHENO:0002640",
+ "UPHENO:0009302",
+ "UPHENO:0081515",
+ "UPHENO:0025701",
+ "UPHENO:0003012",
+ "UPHENO:0002752",
+ "UPHENO:0009326",
+ "UPHENO:0025452",
+ "UBERON:0015023",
+ "UBERON:0011250",
+ "UBERON:0015024",
+ "UBERON:5101463",
+ "HP:0009802",
+ "UPHENO:0009303",
+ "HP:0009767",
+ "UPHENO:0076755",
+ "UPHENO:0002652",
+ "UBERON:0003821",
+ "UBERON:0010546",
+ "UBERON:0012150",
+ "HP:0005918",
+ "HP:0009658",
+ "UPHENO:0025456",
+ "UPHENO:0080191",
+ "UPHENO:0025441",
+ "HP:0010026",
+ "UBERON:0004302",
+ "HP:0009834",
+ "UPHENO:0002898",
+ "UPHENO:0025556",
+ "UPHENO:0025527",
+ "UPHENO:0009383",
+ "UBERON:0003221",
+ "UBERON:0012357",
+ "UBERON:0002374",
+ "UBERON:0015043",
+ "UPHENO:0025647",
+ "UPHENO:0009363",
+ "UPHENO:0027061",
+ "UPHENO:0002267",
+ "UPHENO:0002570",
+ "UPHENO:0076710",
+ "HP:0006824",
+ "UPHENO:0002269",
+ "UBERON:0000122",
+ "HP:0011805",
+ "UPHENO:0002386",
+ "UBERON:0011779",
+ "UPHENO:0005116",
+ "UBERON:0015789",
+ "UBERON:0014892",
+ "HP:0012799",
+ "HP:0031910",
+ "UPHENO:0002385",
+ "UPHENO:0002562",
+ "UPHENO:0002359",
+ "HP:0011799",
+ "HP:0045010",
+ "UBERON:0005090",
+ "UPHENO:0026045",
+ "UPHENO:0003587",
+ "UPHENO:0002759",
+ "HP:0003011",
+ "UBERON:0001577",
+ "UBERON:0010959",
+ "UPHENO:0080556",
+ "HP:0010827",
+ "HP:0000271",
+ "UBERON:0002376",
+ "UPHENO:0087369",
+ "UBERON:0001033",
+ "UPHENO:0080555",
+ "UPHENO:0002928",
+ "UBERON:0001021",
+ "UBERON:0001785",
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+ "Carpal bone aplasia",
+ "carpal bone phenotype",
+ "proximal mesopodial endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the carpal bones",
+ "absent mesopodium bone",
+ "proximal mesopodial bone phenotype",
+ "absent proximal carpal endochondral element",
+ "aplastic carpal bone",
+ "mesopodium bone phenotype",
+ "skeletal joint phenotype",
+ "skeletal joint morphology in the pectoral complex phenotype",
+ "absent mesopodium bone in the limb",
+ "carpal region phenotype",
+ "absent proximal carpal bone",
+ "Abnormality of the scaphoid",
+ "carpal region",
+ "absent radiale",
+ "absent short bone in the limb",
+ "mesopodium region phenotype",
+ "carpus endochondral element",
+ "skeletal joint",
+ "multi organ part structure",
+ "carpal bone morphology phenotype",
+ "Absent scaphoid",
+ "proximal mesopodial bone",
+ "proximal carpal endochondral element",
+ "short bone",
+ "Abnormality of upper limb joint",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "absent autopod endochondral element in the limb",
+ "absent skeletal element in the metacarpus region",
+ "absent anatomical structure in the metacarpus region",
+ "absent carpus endochondral element in the limb",
+ "absent autopod bone in the metacarpus region",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "Aplasia of the proximal phalanges of the hand",
+ "metapodium bone 1 phenotype",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "metacarpal bone morphology phenotype",
+ "manual digit bone phenotype",
+ "Abnormal finger phalanx morphology",
+ "absent metapodium bone",
+ "aplasia or hypoplasia of phalanx of manus",
+ "proximal carpal endochondral element phenotype",
+ "absent digitopodium bone",
+ "phalanx of manus phenotype",
+ "Abnormal metacarpal morphology",
+ "absent manual digitopodium bone in the metacarpus region",
+ "aplastic metacarpal bone of digit 1",
+ "absent endochondral bone in the metacarpus region",
+ "absent metacarpal bone in the metacarpus region",
+ "absent bone of appendage girdle complex in the metacarpus region",
+ "Aplasia of metacarpal bones",
+ "absent manus bone in the metacarpus region",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "metapodium bone phenotype",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "metapodium bone 1",
+ "proximal phalanx",
+ "proximal phalanx of manus",
+ "Partial absence of thumb",
+ "Aplasia of the 1st metacarpal",
+ "autopod bone phenotype",
+ "absent anatomical entity in the metacarpus region",
+ "absent limb endochondral element in the metacarpus region",
+ "absent manus bone in the limb",
+ "manual digit phalanx endochondral element phenotype",
+ "autopod endochondral element phenotype",
+ "absent limb long bone in the metacarpus region",
+ "phalanx phenotype",
+ "absent manus bone",
+ "digit 1 digitopodial skeleton",
+ "manual digit digitopodial skeleton",
+ "absent bone of pectoral complex in the metacarpus region",
+ "Abnormality of thumb phalanx",
+ "phalanx endochondral element",
+ "manual digit metacarpus endochondral element",
+ "manual digit phalanx endochondral element",
+ "absent long bone in the metacarpus region",
+ "proximal carpal bone",
+ "digitopodium bone phenotype",
+ "Aplasia/Hypoplasia of the proximal phalanges of the hand",
+ "absent autopod bone in the limb",
+ "manual digit 1 metacarpus endochondral element",
+ "manual digit 1 phalanx phenotype",
+ "absent manual digit metacarpus endochondral element in the metacarpus region",
+ "metacarpal bone of digit 1",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
+ "metapodium bone",
+ "skeleton of digitopodium",
+ "absent mesoderm-derived structure in the metacarpus region",
+ "absent metapodium bone in the metacarpus region",
+ "facial nerve",
+ "cranial neuron projection bundle",
+ "decreased muscle organ strength",
+ "Abnormal seventh cranial physiology",
+ "peripheral nervous system",
+ "neuron projection bundle",
+ "muscle structure physiology phenotype",
+ "lateral structure physiology phenotype",
+ "nerve phenotype",
+ "muscle organ phenotype",
+ "material anatomical entity physiology phenotype",
+ "multi cell part structure phenotype",
+ "muscle organ morphology phenotype",
+ "Cranial nerve paralysis",
+ "neuron projection bundle phenotype",
+ "axial musculature",
+ "face phenotype",
+ "Unilateral facial palsy",
+ "skeletal muscle organ, vertebrate phenotype",
+ "paralysed anatomical entity",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "Abnormality of facial soft tissue",
+ "metapodial skeleton",
+ "cranial neuron projection bundle phenotype",
+ "skeletal musculature",
+ "muscle structure",
+ "multicellular anatomical structure physiology phenotype",
+ "paralysed cranial nerve",
+ "cranial muscle phenotype",
+ "Abnormality of the musculature",
+ "Abnormal skeletal muscle morphology",
+ "cranial or facial muscle phenotype",
+ "cranial or facial muscle",
+ "Abnormal peripheral nerve morphology by anatomical site",
+ "Weakness of facial musculature",
+ "skeletal joint morphology phenotype",
+ "facial muscle",
+ "absent autopod endochondral element",
+ "craniocervical muscle",
+ "anatomical structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "peripheral nervous system phenotype",
+ "Abnormal nervous system physiology",
+ "muscle organ physiology phenotype",
+ "musculature of face",
+ "skeletal musculature of head",
+ "cranial nerve physiology phenotype",
+ "anatomical system physiology phenotype",
+ "aplastic manual digit 1 phalanx",
+ "muscle organ",
+ "craniocervical muscle phenotype",
+ "decreased anatomical entity strength",
+ "subdivision of head phenotype",
+ "nervous system physiology phenotype",
+ "manual digit bone",
+ "Abnormal morphology of the great vessels",
+ "material anatomical entity morphology in the heart phenotype",
+ "artery morphology phenotype",
+ "Abnormal heart morphology",
+ "Congenital malformation of the great arteries",
+ "systemic arterial system",
+ "Abnormal cardiovascular system morphology",
+ "vascular system",
+ "heart morphology phenotype",
+ "Abnormality of the vasculature",
+ "vessel phenotype",
+ "incomplete closing of the coronary vessel",
+ "cranial nerve",
+ "ductus arteriosus morphology phenotype",
+ "circulatory organ",
+ "Abnormality of the cardiovascular system",
+ "incomplete closing of the vessel",
+ "incomplete closing of the heart blood vessel",
+ "blood vessel morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "incomplete closing of the anatomical structure",
+ "incomplete closing of the systemic artery",
+ "anatomical conduit",
+ "incomplete closing of the ductus arteriosus",
+ "manual digit 1 phalanx",
+ "artery phenotype",
+ "anatomical cluster phenotype",
+ "trunk blood vessel",
+ "arterial blood vessel",
+ "great vessel of heart",
+ "anatomical cluster",
+ "carpus endochondral element phenotype",
+ "incomplete closing of the arterial blood vessel",
+ "trunk blood vessel phenotype",
+ "anatomical conduit phenotype",
+ "mesopodium region",
+ "aplasia or hypoplasia of metacarpal bone",
+ "systemic artery",
+ "phalanx",
+ "vasculature of organ",
+ "nerve",
+ "heart plus pericardium",
+ "vasculature of trunk",
+ "heart blood vessel",
+ "arterial system",
+ "disconnected anatomical group",
+ "great vessel of heart morphology phenotype",
+ "heart vasculature",
+ "ductus arteriosus",
+ "incomplete closing of the thoracic segment blood vessel",
+ "Abnormality of the peripheral nervous system",
+ "compound organ",
+ "zeugopodial skeleton",
+ "absent carpus endochondral element",
+ "limb long bone",
+ "absent organ in the multicellular organism",
+ "blood vessel",
+ "outflow tract",
+ "Ectopic kidney",
"Abnormal renal morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "decreased size of the endochondral element",
- "Short long bone",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "postcranial axial skeleton",
- "organ system subdivision",
- "bone of dorsum phenotype",
- "viscus",
- "aplasia or hypoplasia of manual digit",
- "decreased size of the bone of pectoral complex",
- "blood cell phenotype",
- "simple eye phenotype",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type organ phenotype",
- "cervical vertebra endochondral element phenotype",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "Abnormal localization of kidney",
+ "programmed DNA elimination by chromosome breakage",
+ "size of skull phenotype",
"trunk region element",
- "Abnormality of the integument",
- "incomplete closing of the material anatomical entity",
- "phenotype",
"pectoral complex",
- "septum phenotype",
- "radius endochondral element",
- "Atrial septal defect",
- "decreased size of the multicellular anatomical structure",
- "Decreased head circumference",
- "material anatomical entity",
- "appendicular skeletal system",
- "long bone",
- "lateral structure",
- "closing of the anatomical structure",
- "phenotypic effect",
- "decreased length of bone of appendage girdle complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "digestive system phenotype",
- "vertebra",
- "decreased length of forelimb bone",
- "decreased length of organ",
- "myeloblast",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "Macule",
- "programmed DNA elimination by chromosome breakage",
- "heart morphology phenotype",
- "thoracic cavity element phenotype",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
+ "subdivision of skeletal system",
+ "entity",
+ "manual digit 1 phalanx endochondral element",
"forelimb zeugopod bone morphology phenotype",
- "integument phenotype",
- "musculature",
- "absent manual digit",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "nervous system phenotype",
- "limb phenotype",
+ "renal system phenotype",
+ "absent endochondral bone in the limb",
+ "short bone phenotype",
+ "acropodial skeleton",
+ "Abnormal muscle physiology",
+ "autopod region morphology phenotype",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "Abnormality of the upper urinary tract",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "localised multicellular anatomical structure",
+ "gustatory system",
+ "main body axis",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "segment of autopod",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "kidney phenotype",
+ "skeletal system morphology phenotype",
+ "cell",
+ "limb",
+ "Abnormality of the upper limb",
+ "skeletal element",
+ "zeugopod",
+ "regulation of biosynthetic process phenotype",
+ "cranial muscle",
+ "subdivision of organism along main body axis phenotype",
+ "absent limb bone in the limb",
+ "aplasia or hypoplasia of proximal phalanx of manus",
"negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "forelimb phenotype",
- "multicellular organism",
- "decreased size of the skeletal element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Medulloblastoma",
- "hematopoietic system",
- "Abnormality of head or neck",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "bone of pectoral complex phenotype",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "shape of continuant phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "homeostatic process",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Muscle weakness",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
+ "aplasia or hypoplasia of radius bone",
+ "absent bone of pectoral complex in the forelimb",
+ "phalanx morphology phenotype",
+ "Eumetazoa",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "articular system",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "phalanx endochondral element phenotype",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent carpal bone in the limb",
+ "metacarpal bone",
+ "occurrent",
"subdivision of skeleton",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "increased size of the organ part",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "root",
+ "decreased length of organ",
+ "musculoskeletal system",
+ "localised anatomical structure",
+ "proximal mesopodial endochondral element",
+ "Absent thumb",
+ "cavitated compound organ phenotype",
+ "mesopodium bone",
+ "bone of free limb or fin",
+ "aplastic anatomical entity",
+ "incomplete closing of the trunk blood vessel",
+ "anterior region of body",
+ "cardiovascular system",
+ "absent skeletal element",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
"anatomical collection",
- "septum",
- "Abnormal cardiac septum morphology",
- "decreased length of limb bone",
- "incomplete closing of the septum",
+ "absent carpal bone",
+ "nervous system phenotype",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "systemic artery phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "Opisthokonta",
"Eukaryota",
- "anatomical system phenotype",
- "cardiac atrium",
- "absent material anatomical entity in the limb",
- "digestive tract",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "incomplete closing of the artery",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "proximal carpal bone phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "arterial blood vessel phenotype",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
+ "Phenotypic abnormality",
+ "carpal bone",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "multicellular anatomical structure phenotype",
+ "bone element phenotype",
+ "Abnormal carpal morphology",
+ "mesopodial skeleton",
+ "multi-limb segment region phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "absent autopod bone",
+ "regulation of macromolecule metabolic process",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "absent organ in the metacarpus region",
+ "organism subdivision phenotype",
+ "appendage phenotype",
"skeleton of limb",
- "radius bone hypoplasia",
- "multicellular anatomical structure",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
+ "Aplasia involving forearm bones",
+ "negative regulation of cellular process phenotype",
+ "absent manual digit metacarpus endochondral element",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "incomplete closing of the anatomical entity",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "manual digitopodium bone phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "viscus",
+ "decreased size of the skeletal element",
+ "appendicular skeleton",
+ "upper limb segment",
+ "multi cell part structure",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "carpal skeleton",
+ "arm phenotype",
+ "thoracic cavity element",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "limb bone",
+ "absent bone element in the limb",
+ "absent forelimb endochondral element in the metacarpus region",
"segment of manus",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "upper limb segment phenotype",
- "negative regulation of biosynthetic process",
- "vertebral element",
- "absent autopodial extension",
- "upper eyelid",
- "specifically dependent continuant",
- "Epicanthus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "limb endochondral element",
+ "absent limb bone",
+ "agenesis of anatomical entity",
+ "absent bone element in the metacarpus region",
+ "absent bone of free limb or fin in the limb",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "manus bone",
+ "radius bone",
+ "Abnormality of the hand",
+ "nerve of head region",
+ "phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "absent limb long bone in the forelimb",
+ "autopodial extension phenotype",
+ "manual digit",
+ "articulation phenotype",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "absent multicellular anatomical structure in the skeletal system",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "regulation of cellular process phenotype",
"forelimb zeugopod",
- "limb long bone phenotype",
- "incomplete closing of the anatomical structure",
- "Abnormality of the head",
- "aplasia or hypoplasia of skeleton",
- "arm bone",
- "occurrent",
- "multi-limb segment region",
- "musculature of body",
- "pectoral appendage",
+ "absent organism subdivision in the multicellular organism",
+ "multicellular organism",
+ "regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "manus morphology phenotype",
+ "material anatomical entity phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "paired limb/fin",
+ "metacarpus region",
+ "Hypoplasia of the radius",
+ "absent material anatomical entity in the metacarpus region",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "aplasia or hypoplasia of carpal bone",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "cranial nerve phenotype",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "mesoderm-derived structure phenotype",
+ "decreased length of bone of appendage girdle complex",
"bone element",
- "skin of face",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "organism subdivision phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "regulation of biological process",
+ "facial nerve phenotype",
+ "digit 1 phenotype",
+ "vessel",
+ "lateral structure",
+ "autopod bone",
"mesoderm-derived structure",
- "upper urinary tract phenotype",
- "excretory system",
- "paired limb/fin segment",
- "cardiac chamber",
- "Growth abnormality",
- "skeletal system phenotype",
- "limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "decreased length of anatomical entity",
- "Abnormal skeletal morphology",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormal digit morphology",
"thoracic segment organ",
- "Renal agenesis",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "nucleate cell",
- "zeugopodial skeleton",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "cardiac septum",
- "heart plus pericardium",
- "non-connected functional system",
- "viscus phenotype",
- "segment of autopod",
- "primary circulatory organ phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "dorsal region element phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "absent trunk region element in the multicellular organism",
- "regulation of cellular metabolic process",
- "Abnormal cardiovascular system morphology",
- "cardiac atrium phenotype",
- "Absent thumb",
- "cardiovascular system morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "anatomical structure morphology in the heart phenotype",
- "cardiovascular system phenotype",
- "granulocytopoietic cell",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "cervical vertebra",
- "paired limb/fin segment phenotype",
- "compound organ",
- "subdivision of organism along main body axis",
- "decreased size of the forelimb bone",
- "main body axis",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "material anatomical entity morphology in the heart phenotype",
- "neck phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "structure with developmental contribution from neural crest",
- "absent anatomical structure in the limb",
- "Abnormality of the ocular adnexa",
- "orbital region phenotype",
- "Neoplasm of the central nervous system",
- "organ part phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "opening of the anatomical entity",
- "cardiac atrium morphology phenotype",
- "Decreased body weight",
- "thoracic segment organ phenotype",
- "biological_process",
- "cardiac chamber phenotype",
- "trunk phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
+ "absent forelimb long bone",
+ "organ system subdivision",
+ "metacarpus skeleton",
+ "nerve of head region phenotype",
+ "musculature",
"regional part of brain",
- "digit phenotype",
- "anus phenotype",
- "autopodial extension phenotype",
- "decreased size of the ectoderm-derived structure",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "blood vasculature",
+ "limb endochondral element phenotype",
+ "skeletal muscle organ, vertebrate",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "taxon specific phenotype",
+ "absent manual digit",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "head or neck skin",
- "digit 1 phenotype",
- "number of cell phenotype",
- "limb bone",
- "camera-type eye phenotype",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "absent anatomical entity in the skeletal system",
+ "Abnormal cellular physiology",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "absent bone of free limb or fin",
+ "articulation",
+ "Abnormality of facial musculature",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Abnormal skeletal morphology",
+ "aplastic phalanx of manus",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "incomplete closing of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone of appendage girdle complex phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
"manual digit 1 or 5",
- "decreased length of digit 1",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
+ "paired limb/fin segment phenotype",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent long bone",
+ "anatomical entity",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "pectoral appendage skeleton",
+ "absent proximal mesopodial endochondral element",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
"manus",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "eukaryotic cell",
- "integument",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "anatomical entity atresia",
- "autopod region",
- "myeloid cell",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "Short digit",
- "autopod region morphology phenotype",
- "interventricular septum",
- "skull",
- "Neoplasm of the nervous system",
- "Short thumb",
- "Abnormality of the hand",
"Abnormality of limbs",
- "incomplete closing of the interatrial septum",
- "aplasia or hypoplasia of manual digit 1",
- "size of eyeball of camera-type eye phenotype",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "Acute myeloid leukemia",
- "anus",
- "Ventricular septal defect",
- "decreased length of autopodial extension",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
+ "muscle structure phenotype",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "arm bone",
+ "Abnormal joint morphology",
+ "body proper",
+ "absent limb endochondral element in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "multicellular organism morphology phenotype",
+ "absent forelimb bone in the metacarpus region",
+ "absent multicellular anatomical structure in the limb",
+ "regulation of cellular process",
+ "localised trunk region element",
+ "coronary vessel",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "craniocervical region morphology phenotype",
+ "Abnormality of the skeletal system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "system",
+ "regulation of gene expression phenotype",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "absent forelimb long bone in the metacarpus region",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent limb bone in the metacarpus region",
"absent organism subdivision",
- "Ectopic kidney",
- "abdominal segment of trunk",
- "cervical vertebra phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
+ "absent endochondral element in the metacarpus region",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "blood vessel phenotype",
+ "decreased length of mesoderm-derived structure",
+ "negative regulation of macromolecule metabolic process",
"abdominal segment element",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "eyeball of camera-type eye",
+ "absent autopodial extension",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "digit 1 plus metapodial segment",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "absent metacarpal bone",
+ "absent anatomical entity",
+ "process",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "embryonic cardiovascular system",
+ "organism subdivision",
+ "craniocervical region musculature",
+ "regional part of brain phenotype",
+ "digit 1 or 5 phenotype",
+ "obsolete cell",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "programmed DNA elimination",
+ "multi-limb segment region",
+ "Facial palsy",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "metacarpal bone of digit 1 morphology phenotype",
+ "anatomical system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "renal system morphology phenotype",
+ "metacarpal bone phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "lateral structure phenotype",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormality of the kidney",
+ "trunk",
+ "Abnormality of the genitourinary system",
+ "forebrain",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "circulatory system",
+ "subdivision of organism along main body axis",
+ "renal system",
+ "Morphological central nervous system abnormality",
+ "Abnormality of the urinary system",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "biological_process",
"genitourinary system phenotype",
- "decreased size of the sense organ",
- "biogenic amine secreting cell",
- "interatrial septum morphology phenotype",
- "cavitated compound organ phenotype",
- "neck bone",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
+ "absent multicellular anatomical structure in the metacarpus region",
+ "manual digitopodium region",
+ "upper urinary tract",
+ "absent bone of free limb or fin in the metacarpus region",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "multi organ part structure phenotype",
+ "heart",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the head",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "Growth abnormality",
+ "cardiovascular system morphology phenotype",
+ "axial skeletal system",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "telencephalon phenotype",
+ "cellular organisms",
+ "Microcephaly",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "manus bone phenotype",
+ "Abnormal morphology of the radius",
+ "craniocervical region",
+ "forelimb skeleton",
+ "head morphology phenotype",
+ "regional part of nervous system phenotype",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "telencephalon",
+ "structure with developmental contribution from neural crest",
+ "decreased length of limb bone",
+ "ectoderm-derived structure",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "skull morphology phenotype",
+ "Abnormal 1st metacarpal morphology",
+ "Abnormal brain morphology",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "autopod endochondral element",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "central nervous system",
+ "absent organ in the forelimb",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "localised anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "incomplete closing of the anatomical conduit",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "aplastic forelimb zeugopod bone",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "Limb undergrowth",
+ "radius endochondral element",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
+ "decreased size of the material anatomical entity",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "decreased size of the bone of free limb or fin",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased length of anatomical structure",
"renal/urinary system phenotype",
- "appendicular skeleton",
- "Abnormal eye morphology",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
- "tube phenotype",
- "Leukemia",
- "localised abdomen element",
- "head phenotype",
- "anatomical entity",
- "primary circulatory organ",
- "localised organ",
- "incomplete closing of the anatomical entity",
- "kidney phenotype",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "absent radius bone",
+ "axial skeleton plus cranial skeleton",
+ "decreased size of the limb bone",
+ "absent short bone",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "decreased length of multicellular anatomical structure",
"kidney",
- "abdominal segment element phenotype",
- "localised anatomical entity",
- "Abnormal localization of kidney",
- "genitourinary system",
- "simple eye",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "Urinary tract neoplasm",
- "decreased length of forelimb endochondral element",
- "Renal neoplasm",
- "vertebral column phenotype",
- "Embryonal neoplasm",
- "pectoral appendage skeleton",
- "Nephroblastoma",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "increased length of the head or neck skin",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent digit",
- "bone of dorsum",
- "aplastic anatomical entity",
- "neck",
- "Abnormality of the orbital region",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "digit",
- "head",
- "visual system phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "eye",
- "face phenotype",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "craniocervical region",
- "disconnected anatomical group",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "absent limb long bone",
+ "decreased size of the forelimb bone",
+ "Abnormal peripheral nervous system morphology",
+ "Abnormal upper limb bone morphology",
+ "Abnormal blood vessel morphology",
+ "decreased size of the arm bone",
"decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "eye phenotype",
- "increased length of the non-material anatomical boundary",
- "sensory system",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "skin of body",
- "number of platelet phenotype",
- "Abnormality of globe size",
- "material anatomical entity atresia",
- "trunk or cervical vertebra phenotype",
- "Abnormality of the eye",
- "vertebra phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "visual system",
- "decreased size of the manual digit",
- "continuant",
+ "number of anatomical enitites of type bone element phenotype",
+ "Abnormal forearm bone morphology",
+ "absent autopod endochondral element in the metacarpus region",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "bone of pectoral complex morphology phenotype",
+ "organ",
+ "decreased size of the anatomical structure",
"Abnormality of the face",
- "decreased size of the eyeball of camera-type eye",
- "immaterial entity",
- "entire sense organ system",
- "sense organ",
- "Acute leukemia",
- "Abnormal cellular immune system morphology",
- "Hematological neoplasm",
- "interventricular septum morphology phenotype",
- "immune system",
- "Cafe-au-lait spot",
- "neck bone phenotype",
- "hematopoietic precursor cell",
- "material entity",
- "leukocyte",
- "digit 1",
- "progenitor cell",
- "anatomical collection phenotype",
- "Abnormal immune system morphology",
- "leukocyte morphology phenotype",
- "craniofacial/craniocervical phenotype",
- "Decreased anatomical entity mass",
"decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "immune system morphology phenotype",
- "cell phenotype",
- "hematopoietic cell",
- "decreased size of the digit",
- "motile cell",
- "precursor cell",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "Abnormal cellular phenotype",
- "multicellular organism mass phenotype",
- "absent anatomical entity in the forelimb",
- "Abnormality of body weight",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "multicellular anatomical structure mass phenotype",
- "anatomical entity mass phenotype",
- "decreased material anatomical entity mass",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
+ "decreased size of the endochondral element",
+ "absent forelimb zeugopod bone",
+ "decreased length of forelimb endochondral element",
+ "metapodium region",
+ "Aplasia/hypoplasia involving forearm bones",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "absent arm bone in the forelimb",
+ "decreased length of endochondral bone",
+ "absent forelimb bone in the forelimb",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "peripheral nervous system morphology phenotype",
+ "Aplasia involving bones of the upper limbs",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "absent bone of pectoral complex in the limb",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type organ phenotype",
+ "radiale",
+ "anatomical entity physiology phenotype",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "Abnormal proximal phalanx morphology of the hand",
+ "absent limb bone in the forelimb",
+ "absent skeletal element in the limb",
+ "absent anatomical structure in the skeletal system",
+ "Patent ductus arteriosus",
+ "absent bone element",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "absent forelimb bone",
+ "absent manual digitopodium bone",
+ "absent organ",
+ "Absent radius",
+ "radiale phenotype",
+ "Absent forearm bone",
+ "Aplasia of the phalanges of the hand",
+ "subdivision of head",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "absent limb endochondral element",
+ "facial muscle phenotype",
+ "systemic artery morphology phenotype",
+ "absent organ in the limb",
+ "absent endochondral element",
+ "absent endochondral bone in the forelimb",
+ "skeleton of manual digitopodium",
+ "localised organ",
+ "primary circulatory organ",
+ "absent endochondral bone",
+ "autopod region phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "absent radius bone in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "Short long bone",
+ "absent arm bone",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "arm bone phenotype",
+ "delayed growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"growth",
- "Neoplasm of the genitourinary tract",
- "decreased multicellular anatomical structure mass",
- "anatomical structure mass phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "body proper",
- "material anatomical entity mass phenotype",
- "Short forearm",
"growth phenotype",
+ "vasculature phenotype",
+ "decreased length of forelimb bone",
+ "anatomical structure morphology in the heart phenotype",
+ "anatomical entity morphology in the heart phenotype",
+ "Abnormal vascular morphology",
+ "absent digitopodium bone in the metacarpus region",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "incomplete closing of the blood vessel",
+ "absent bone of free limb or fin in the forelimb",
+ "artery",
+ "localised kidney",
+ "absent anatomical structure",
+ "conceptus",
+ "thoracic segment blood vessel",
],
},
],
diff --git a/backend/tests/fixtures/histopheno.py b/backend/tests/fixtures/histopheno.py
index 871e8adcf..adb55d9be 100644
--- a/backend/tests/fixtures/histopheno.py
+++ b/backend/tests/fixtures/histopheno.py
@@ -6,21 +6,21 @@ def histopheno():
return {
"id": "MONDO:0020121",
"items": [
- {"label": "musculature", "count": 2057, "id": "UPHENO:0002816"},
- {"label": "nervous_system", "count": 1113, "id": "UPHENO:0004523"},
- {"label": "head_neck", "count": 595, "id": "UPHENO:0002764"},
- {"label": "skeletal_system", "count": 508, "id": "UPHENO:0002964"},
+ {"label": "musculature", "count": 2068, "id": "UPHENO:0002816"},
+ {"label": "nervous_system", "count": 1126, "id": "UPHENO:0004523"},
+ {"label": "head_neck", "count": 597, "id": "UPHENO:0002764"},
+ {"label": "skeletal_system", "count": 509, "id": "UPHENO:0002964"},
{"label": "eye", "count": 297, "id": "UPHENO:0003020"},
- {"label": "metabolism_homeostasis", "count": 225, "id": "HP:0001939"},
- {"label": "blood", "count": 183, "id": "UPHENO:0004459"},
+ {"label": "metabolism_homeostasis", "count": 228, "id": "HP:0001939"},
+ {"label": "blood", "count": 185, "id": "UPHENO:0004459"},
{"label": "connective_tissue", "count": 175, "id": "UPHENO:0002712"},
- {"label": "respiratory", "count": 157, "id": "UPHENO:0004536"},
- {"label": "digestive_system", "count": 153, "id": "UPHENO:0002833"},
+ {"label": "respiratory", "count": 158, "id": "UPHENO:0004536"},
+ {"label": "digestive_system", "count": 154, "id": "UPHENO:0002833"},
{"label": "integument", "count": 49, "id": "UPHENO:0002635"},
{"label": "genitourinary_system", "count": 49, "id": "UPHENO:0002642"},
{"label": "growth", "count": 32, "id": "UPHENO:0049874"},
{"label": "immune_system", "count": 28, "id": "UPHENO:0002948"},
- {"label": "ear", "count": 26, "id": "HP:0000598"},
+ {"label": "ear", "count": 28, "id": "HP:0000598"},
{"label": "endocrine", "count": 25, "id": "UPHENO:0003116"},
{"label": "prenatal_or_birth", "count": 22, "id": "UPHENO:0075949"},
{"label": "neoplasm", "count": 7, "id": "HP:0002664"},
diff --git a/backend/tests/fixtures/histopheno_query.py b/backend/tests/fixtures/histopheno_query.py
index e2d3dfb4c..c11db3a51 100644
--- a/backend/tests/fixtures/histopheno_query.py
+++ b/backend/tests/fixtures/histopheno_query.py
@@ -33,7 +33,6 @@ def histopheno_query():
'object_closure:"UPHENO:0003013"',
],
"filter_queries": ['subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121"'],
- "facet_mincount": 1,
"query_fields": None,
"def_type": "edismax",
"q_op": "AND",
diff --git a/backend/tests/fixtures/histopheno_response.py b/backend/tests/fixtures/histopheno_response.py
index f9938d00a..30a7cbe26 100644
--- a/backend/tests/fixtures/histopheno_response.py
+++ b/backend/tests/fixtures/histopheno_response.py
@@ -36,31 +36,30 @@ def histopheno_response():
"start": "0",
"q.op": "AND",
"fq": 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121"',
- "facet.mincount": "1",
"rows": "0",
"facet": "true",
},
},
- "response": {"num_found": 4563, "start": 0, "docs": []},
+ "response": {"num_found": 4599, "start": 0, "docs": []},
"facet_counts": {
"facet_fields": {},
"facet_queries": {
- 'object_closure:"UPHENO:0002964"': 508,
- 'object_closure:"UPHENO:0004523"': 1113,
- 'object_closure:"UPHENO:0002764"': 595,
+ 'object_closure:"UPHENO:0002964"': 509,
+ 'object_closure:"UPHENO:0004523"': 1126,
+ 'object_closure:"UPHENO:0002764"': 597,
'object_closure:"UPHENO:0002635"': 49,
'object_closure:"UPHENO:0003020"': 297,
'object_closure:"UPHENO:0080362"': 0,
- 'object_closure:"HP:0001939"': 225,
+ 'object_closure:"HP:0001939"': 228,
'object_closure:"UPHENO:0002642"': 49,
- 'object_closure:"UPHENO:0002833"': 153,
+ 'object_closure:"UPHENO:0002833"': 154,
'object_closure:"HP:0002664"': 7,
- 'object_closure:"UPHENO:0004459"': 183,
+ 'object_closure:"UPHENO:0004459"': 185,
'object_closure:"UPHENO:0002948"': 28,
'object_closure:"UPHENO:0003116"': 25,
- 'object_closure:"UPHENO:0002816"': 2057,
- 'object_closure:"UPHENO:0004536"': 157,
- 'object_closure:"HP:0000598"': 26,
+ 'object_closure:"UPHENO:0002816"': 2068,
+ 'object_closure:"UPHENO:0004536"': 158,
+ 'object_closure:"HP:0000598"': 28,
'object_closure:"UPHENO:0002712"': 175,
'object_closure:"UPHENO:0075949"': 22,
'object_closure:"UPHENO:0049874"': 32,
diff --git a/backend/tests/fixtures/mapping_query.py b/backend/tests/fixtures/mapping_query.py
index b24fa2acc..101a1ad84 100644
--- a/backend/tests/fixtures/mapping_query.py
+++ b/backend/tests/fixtures/mapping_query.py
@@ -12,7 +12,6 @@ def mapping_query():
"facet_fields": [],
"facet_queries": [],
"filter_queries": ['subject_id:"MONDO\\:0020121" OR object_id:"MONDO\\:0020121"'],
- "facet_mincount": 1,
"query_fields": None,
"def_type": "edismax",
"q_op": "AND",
diff --git a/backend/tests/fixtures/mapping_response.py b/backend/tests/fixtures/mapping_response.py
index 630eb4d0a..2862d357d 100644
--- a/backend/tests/fixtures/mapping_response.py
+++ b/backend/tests/fixtures/mapping_response.py
@@ -14,7 +14,6 @@ def mapping_response():
"start": "0",
"q.op": "AND",
"fq": 'subject_id:"MONDO\\:0020121" OR object_id:"MONDO\\:0020121"',
- "facet.mincount": "1",
"rows": "20",
"facet": "true",
},
@@ -30,7 +29,7 @@ def mapping_response():
"object_id": "DOID:9884",
"object_label": "muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "ce156a1f-3e0f-4ffa-939f-14f63a0c16fb",
+ "id": "4f2e79ec-aeeb-4040-b382-ef6269bf2e65",
},
{
"subject_id": "MONDO:0020121",
@@ -39,7 +38,7 @@ def mapping_response():
"object_id": "ICD10CM:G71.0",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "6cc20a75-671a-4495-9c2f-10278696cf96",
+ "id": "63c3a2fa-4183-46ec-a931-84029dccd9c0",
},
{
"subject_id": "MONDO:0020121",
@@ -47,7 +46,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "MEDGEN:44527",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "dbccfe32-a6aa-44a1-8b01-122c4415b2d1",
+ "id": "f6d14347-cb93-467d-9748-2b72e07cfd53",
},
{
"subject_id": "MONDO:0020121",
@@ -56,7 +55,7 @@ def mapping_response():
"object_id": "NCIT:C84910",
"object_label": "Muscular Dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "044c7473-5200-46b0-9882-ab151ddb7375",
+ "id": "3d4a3827-d4fc-42e5-afed-7e33a6cfa8ac",
},
{
"subject_id": "MONDO:0020121",
@@ -65,7 +64,7 @@ def mapping_response():
"object_id": "Orphanet:98473",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "898cbadf-be13-40db-8691-25d61ee4c1da",
+ "id": "9e915435-7914-4115-a06a-65f0052c087b",
},
{
"subject_id": "MONDO:0020121",
@@ -73,7 +72,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "SCTID:73297009",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "da0a14f4-8938-43f2-85b8-c2c4f3c34d25",
+ "id": "0dd46d38-566d-411d-9969-f72477c4979d",
},
{
"subject_id": "MONDO:0020121",
@@ -81,7 +80,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "UMLS:C0026850",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "2fd2bfe8-92de-442c-90d1-ea1b6bad89c4",
+ "id": "a3dfb55d-83e8-4c81-a08d-ca9a856adf3a",
},
{
"subject_id": "MONDO:0020121",
@@ -89,7 +88,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "icd11.foundation:1464662404",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "528e3222-47ef-4753-8322-e7c7534ee984",
+ "id": "633a180e-cd8f-46e9-9501-f86b04efba22",
},
{
"subject_id": "MONDO:0020121",
@@ -97,7 +96,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "MESH:D009136",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "b202ada7-9025-4f54-af8a-e99c008e51cf",
+ "id": "3a648314-ad03-4942-a741-7c181f1e7e5e",
},
],
},
diff --git a/backend/tests/fixtures/mappings.py b/backend/tests/fixtures/mappings.py
index 91e8c4496..12c89a6ae 100644
--- a/backend/tests/fixtures/mappings.py
+++ b/backend/tests/fixtures/mappings.py
@@ -15,7 +15,7 @@ def mappings():
"object_id": "DOID:9884",
"object_label": "muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "ce156a1f-3e0f-4ffa-939f-14f63a0c16fb",
+ "id": "4f2e79ec-aeeb-4040-b382-ef6269bf2e65",
},
{
"subject_id": "MONDO:0020121",
@@ -24,7 +24,7 @@ def mappings():
"object_id": "ICD10CM:G71.0",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "6cc20a75-671a-4495-9c2f-10278696cf96",
+ "id": "63c3a2fa-4183-46ec-a931-84029dccd9c0",
},
{
"subject_id": "MONDO:0020121",
@@ -33,7 +33,7 @@ def mappings():
"object_id": "MEDGEN:44527",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "dbccfe32-a6aa-44a1-8b01-122c4415b2d1",
+ "id": "f6d14347-cb93-467d-9748-2b72e07cfd53",
},
{
"subject_id": "MONDO:0020121",
@@ -42,7 +42,7 @@ def mappings():
"object_id": "NCIT:C84910",
"object_label": "Muscular Dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "044c7473-5200-46b0-9882-ab151ddb7375",
+ "id": "3d4a3827-d4fc-42e5-afed-7e33a6cfa8ac",
},
{
"subject_id": "MONDO:0020121",
@@ -51,7 +51,7 @@ def mappings():
"object_id": "Orphanet:98473",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "898cbadf-be13-40db-8691-25d61ee4c1da",
+ "id": "9e915435-7914-4115-a06a-65f0052c087b",
},
{
"subject_id": "MONDO:0020121",
@@ -60,7 +60,7 @@ def mappings():
"object_id": "SCTID:73297009",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "da0a14f4-8938-43f2-85b8-c2c4f3c34d25",
+ "id": "0dd46d38-566d-411d-9969-f72477c4979d",
},
{
"subject_id": "MONDO:0020121",
@@ -69,7 +69,7 @@ def mappings():
"object_id": "UMLS:C0026850",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "2fd2bfe8-92de-442c-90d1-ea1b6bad89c4",
+ "id": "a3dfb55d-83e8-4c81-a08d-ca9a856adf3a",
},
{
"subject_id": "MONDO:0020121",
@@ -78,7 +78,7 @@ def mappings():
"object_id": "icd11.foundation:1464662404",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "528e3222-47ef-4753-8322-e7c7534ee984",
+ "id": "633a180e-cd8f-46e9-9501-f86b04efba22",
},
{
"subject_id": "MONDO:0020121",
@@ -87,7 +87,7 @@ def mappings():
"object_id": "MESH:D009136",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "b202ada7-9025-4f54-af8a-e99c008e51cf",
+ "id": "3a648314-ad03-4942-a741-7c181f1e7e5e",
},
],
}
diff --git a/backend/tests/fixtures/node.py b/backend/tests/fixtures/node.py
index b623b1b3a..4e3d5a3b8 100644
--- a/backend/tests/fixtures/node.py
+++ b/backend/tests/fixtures/node.py
@@ -76,13 +76,13 @@ def node():
"association_counts": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4115,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation",
},
- {"label": "Causal Gene", "count": 125, "category": "biolink:CausalGeneToDiseaseAssociation"},
- {"label": "Correlated Gene", "count": 150, "category": "biolink:CorrelatedGeneToDiseaseAssociation"},
+ {"label": "Causal Gene", "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation"},
+ {"label": "Correlated Gene", "count": 151, "category": "biolink:CorrelatedGeneToDiseaseAssociation"},
{"label": "Variant to Disease", "count": 1, "category": "biolink:VariantToDiseaseAssociation"},
- {"label": "Disease Model", "count": 238, "category": "biolink:GenotypeToDiseaseAssociation"},
+ {"label": "Disease Model", "count": 237, "category": "biolink:GenotypeToDiseaseAssociation"},
],
"node_hierarchy": {
"super_classes": [
@@ -331,9 +331,9 @@ def node():
"has_phenotype_count": None,
},
{
- "id": "MONDO:0018949",
+ "id": "MONDO:0019950",
"category": "biolink:Disease",
- "name": "distal myopathy",
+ "name": "congenital muscular dystrophy",
"full_name": None,
"deprecated": None,
"description": None,
@@ -353,9 +353,9 @@ def node():
"has_phenotype_count": None,
},
{
- "id": "MONDO:0019950",
+ "id": "MONDO:0018949",
"category": "biolink:Disease",
- "name": "congenital muscular dystrophy",
+ "name": "distal myopathy",
"full_name": None,
"deprecated": None,
"description": None,
diff --git a/backend/tests/fixtures/object_formatted.py b/backend/tests/fixtures/object_formatted.py
index 6714fe423..826b0e593 100644
--- a/backend/tests/fixtures/object_formatted.py
+++ b/backend/tests/fixtures/object_formatted.py
@@ -146,17 +146,17 @@ def node_json():
"association_counts": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4115,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation"
},
{
"label": "Causal Gene",
- "count": 125,
+ "count": 126,
"category": "biolink:CausalGeneToDiseaseAssociation"
},
{
"label": "Correlated Gene",
- "count": 150,
+ "count": 151,
"category": "biolink:CorrelatedGeneToDiseaseAssociation"
},
{
@@ -166,7 +166,7 @@ def node_json():
},
{
"label": "Disease Model",
- "count": 238,
+ "count": 237,
"category": "biolink:GenotypeToDiseaseAssociation"
}
],
@@ -417,9 +417,9 @@ def node_json():
"has_phenotype_count": null
},
{
- "id": "MONDO:0018949",
+ "id": "MONDO:0019950",
"category": "biolink:Disease",
- "name": "distal myopathy",
+ "name": "congenital muscular dystrophy",
"full_name": null,
"deprecated": null,
"description": null,
@@ -439,9 +439,9 @@ def node_json():
"has_phenotype_count": null
},
{
- "id": "MONDO:0019950",
+ "id": "MONDO:0018949",
"category": "biolink:Disease",
- "name": "congenital muscular dystrophy",
+ "name": "distal myopathy",
"full_name": null,
"deprecated": null,
"description": null,
@@ -514,7 +514,7 @@ def node_json():
def node_tsv():
return """
id category name full_name deprecated description xref provided_by in_taxon in_taxon_label symbol synonym uri iri namespace has_phenotype has_phenotype_label has_phenotype_closure has_phenotype_closure_label has_phenotype_count inheritance causal_gene causes_disease mappings external_links provided_by_link association_counts node_hierarchy
-MONDO:0020121 biolink:Disease muscular dystrophy None None Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. ['DOID:9884', 'GARD:7922', 'ICD10CM:G71.0', 'ICD9:359.1', 'MEDGEN:44527', 'MESH:D009136', 'MedDRA:10028356', 'NANDO:1200486', 'NANDO:2100233', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None None http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO None None None None 0 None [] None [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'GARD:7922', 'url': 'https://rarediseases.info.nih.gov/diseases/7922/index'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'ICD9:359.1', 'url': None}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'id': 'NANDO:1200486', 'url': 'http://identifiers.org/NANDO/1200486'}, {'id': 'NANDO:2100233', 'url': 'http://identifiers.org/NANDO/2100233'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Disease to Phenotype', 'count': 4082, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 125, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 150, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}, {'label': 'Variant to Disease', 'count': 1, 'category': 'biolink:VariantToDiseaseAssociation'}, {'label': 'Disease Model', 'count': 238, 'category': 'biolink:GenotypeToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}], 'sub_classes': [{'id': 'MONDO:0008028', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Barnes type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}]}
+MONDO:0020121 biolink:Disease muscular dystrophy None None Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. ['DOID:9884', 'GARD:7922', 'ICD10CM:G71.0', 'ICD9:359.1', 'MEDGEN:44527', 'MESH:D009136', 'MedDRA:10028356', 'NANDO:1200486', 'NANDO:2100233', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None None http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO None None None None 0 None [] None [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'GARD:7922', 'url': 'https://rarediseases.info.nih.gov/diseases/7922/index'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'ICD9:359.1', 'url': None}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'id': 'NANDO:1200486', 'url': 'http://identifiers.org/NANDO/1200486'}, {'id': 'NANDO:2100233', 'url': 'http://identifiers.org/NANDO/2100233'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Disease to Phenotype', 'count': 4115, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 126, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 151, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}, {'label': 'Variant to Disease', 'count': 1, 'category': 'biolink:VariantToDiseaseAssociation'}, {'label': 'Disease Model', 'count': 237, 'category': 'biolink:GenotypeToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}], 'sub_classes': [{'id': 'MONDO:0008028', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Barnes type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}]}
"""
@@ -523,19 +523,19 @@ def node_yaml():
return """
association_counts:
- category: biolink:DiseaseToPhenotypicFeatureAssociation
- count: 4082
+ count: 4115
label: Disease to Phenotype
- category: biolink:CausalGeneToDiseaseAssociation
- count: 125
+ count: 126
label: Causal Gene
- category: biolink:CorrelatedGeneToDiseaseAssociation
- count: 150
+ count: 151
label: Correlated Gene
- category: biolink:VariantToDiseaseAssociation
count: 1
label: Variant to Disease
- category: biolink:GenotypeToDiseaseAssociation
- count: 238
+ count: 237
label: Disease Model
category: biolink:Disease
causal_gene: []
@@ -786,11 +786,11 @@ def node_yaml():
has_phenotype_closure_label: null
has_phenotype_count: null
has_phenotype_label: null
- id: MONDO:0018949
+ id: MONDO:0019950
in_taxon: null
in_taxon_label: null
iri: null
- name: distal myopathy
+ name: congenital muscular dystrophy
namespace: null
provided_by: null
symbol: null
@@ -806,11 +806,11 @@ def node_yaml():
has_phenotype_closure_label: null
has_phenotype_count: null
has_phenotype_label: null
- id: MONDO:0019950
+ id: MONDO:0018949
in_taxon: null
in_taxon_label: null
iri: null
- name: congenital muscular dystrophy
+ name: distal myopathy
namespace: null
provided_by: null
symbol: null
diff --git a/backend/tests/fixtures/object_headers.py b/backend/tests/fixtures/object_headers.py
index b773e874e..47f437478 100644
--- a/backend/tests/fixtures/object_headers.py
+++ b/backend/tests/fixtures/object_headers.py
@@ -51,32 +51,40 @@ def association_headers():
"qualifiers_label",
"qualifiers_namespace",
"qualifiers_category",
+ "qualifiers_closure",
+ "qualifiers_closure_label",
"qualifier",
"qualifier_label",
"qualifier_namespace",
"qualifier_category",
+ "qualifier_closure",
+ "qualifier_closure_label",
"frequency_qualifier_label",
"frequency_qualifier_namespace",
"frequency_qualifier_category",
+ "frequency_qualifier_closure",
+ "frequency_qualifier_closure_label",
"onset_qualifier_label",
"onset_qualifier_namespace",
"onset_qualifier_category",
+ "onset_qualifier_closure",
+ "onset_qualifier_closure_label",
"sex_qualifier_label",
"sex_qualifier_namespace",
"sex_qualifier_category",
+ "sex_qualifier_closure",
+ "sex_qualifier_closure_label",
"stage_qualifier_label",
"stage_qualifier_namespace",
"stage_qualifier_category",
+ "stage_qualifier_closure",
+ "stage_qualifier_closure_label",
"disease_context_qualifier",
"disease_context_qualifier_label",
"disease_context_qualifier_namespace",
"disease_context_qualifier_category",
"disease_context_qualifier_closure",
"disease_context_qualifier_closure_label",
- "species_context_qualifier",
- "species_context_qualifier_label",
- "species_context_qualifier_namespace",
- "species_context_qualifier_category",
]
diff --git a/backend/tests/fixtures/search.py b/backend/tests/fixtures/search.py
index c7dc2b9a0..b7834133c 100644
--- a/backend/tests/fixtures/search.py
+++ b/backend/tests/fixtures/search.py
@@ -50,35 +50,48 @@ def search():
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0100867",
- "HP:0100760",
+ "HP:0000047",
+ "HP:0002575",
+ "HP:0000483",
+ "HP:0000238",
+ "HP:0001249",
+ "HP:0001000",
"HP:0100587",
- "HP:0100542",
"HP:0100026",
"HP:0040071",
+ "HP:0006824",
+ "HP:0005344",
+ "HP:0002414",
+ "HP:0000582",
+ "HP:0000518",
+ "HP:0000508",
+ "HP:0000252",
+ "HP:0010469",
+ "HP:0000377",
+ "HP:0002119",
+ "HP:0001392",
+ "HP:0000864",
+ "HP:0000316",
+ "HP:0000027",
+ "HP:0002863",
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100542",
"HP:0012639",
"HP:0012041",
- "HP:0010469",
"HP:0010293",
"HP:0008678",
- "HP:0000377",
"HP:0008053",
"HP:0007565",
- "HP:0006824",
"HP:0006265",
"HP:0006101",
- "HP:0005344",
"HP:0004349",
"HP:0004209",
"HP:0003022",
- "HP:0002863",
"HP:0002827",
"HP:0002823",
- "HP:0002575",
- "HP:0002414",
"HP:0002251",
"HP:0002245",
- "HP:0002119",
"HP:0002023",
"HP:0002007",
"HP:0001824",
@@ -95,22 +108,16 @@ def search():
"HP:0001537",
"HP:0001511",
"HP:0001510",
- "HP:0001392",
"HP:0001347",
"HP:0001199",
- "HP:0000864",
"HP:0000813",
"HP:0000639",
- "HP:0000582",
"HP:0000568",
"HP:0000520",
- "HP:0000518",
- "HP:0000508",
"HP:0000505",
"HP:0000504",
"HP:0000492",
"HP:0000486",
- "HP:0000483",
"HP:0000478",
"HP:0000453",
"HP:0000365",
@@ -118,20 +125,16 @@ def search():
"HP:0000347",
"HP:0000340",
"HP:0000324",
- "HP:0000316",
"HP:0000286",
"HP:0000268",
- "HP:0000238",
"HP:0000218",
"HP:0000175",
"HP:0000135",
"HP:0000130",
"HP:0000083",
"HP:0000072",
- "HP:0000047",
"HP:0000035",
"HP:0000028",
- "HP:0000027",
"HP:0000010",
"HP:0012745",
"HP:0012210",
@@ -140,8 +143,6 @@ def search():
"HP:0002650",
"HP:0001671",
"HP:0001263",
- "HP:0001249",
- "HP:0000252",
"HP:0000079",
"HP:0007400",
"HP:0006501",
@@ -155,38 +156,50 @@ def search():
"HP:0001871",
"HP:0001172",
"HP:0001053",
- "HP:0001000",
],
"has_phenotype_label": [
- "Duodenal stenosis",
- "Clubbing of toes",
+ "Hypospadias",
+ "Tracheoesophageal fistula",
+ "Astigmatism",
+ "Hydrocephalus",
+ "Intellectual disability",
+ "Abnormality of skin pigmentation",
"Abnormal preputium morphology",
- "Abnormal localization of kidney",
"Arteriovenous malformation",
"Abnormal morphology of ulna",
+ "Cranial nerve paralysis",
+ "Abnormal carotid artery morphology",
+ "Spina bifida",
+ "Upslanted palpebral fissure",
+ "Cataract",
+ "Ptosis",
+ "Microcephaly",
+ "Absent testis",
+ "Abnormal pinna morphology",
+ "Ventriculomegaly",
+ "Abnormality of the liver",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Hypertelorism",
+ "Azoospermia",
+ "Myelodysplasia",
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal localization of kidney",
"Abnormal nervous system morphology",
"Decreased fertility in males",
- "Absent testis",
"Aplasia/Hypoplasia of the uvula",
"Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
"Aplasia/Hypoplasia of the iris",
"Multiple cafe-au-lait spots",
- "Cranial nerve paralysis",
"Aplasia/Hypoplasia of fingers",
"Finger syndactyly",
- "Abnormal carotid artery morphology",
"Reduced bone mineral density",
"Clinodactyly of the 5th finger",
"Hypoplasia of the ulna",
- "Myelodysplasia",
"Hip dislocation",
"Abnormal femur morphology",
- "Tracheoesophageal fistula",
- "Spina bifida",
"Aganglionic megacolon",
"Meckel diverticulum",
- "Ventriculomegaly",
"Anal atresia",
"Frontal bossing",
"Weight loss",
@@ -203,22 +216,16 @@ def search():
"Umbilical hernia",
"Intrauterine growth retardation",
"Growth delay",
- "Abnormality of the liver",
"Hyperreflexia",
"Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
"Bicornuate uterus",
"Nystagmus",
- "Upslanted palpebral fissure",
"Microphthalmia",
"Proptosis",
- "Cataract",
- "Ptosis",
"Visual impairment",
"Abnormality of vision",
"Abnormal eyelid morphology",
"Strabismus",
- "Astigmatism",
"Abnormality of the eye",
"Choanal atresia",
"Hearing impairment",
@@ -226,20 +233,16 @@ def search():
"Micrognathia",
"Sloping forehead",
"Facial asymmetry",
- "Hypertelorism",
"Epicanthus",
"Dolichocephaly",
- "Hydrocephalus",
"High palate",
"Cleft palate",
"Hypogonadism",
"Abnormality of the uterus",
"Renal insufficiency",
"Hydroureter",
- "Hypospadias",
"Abnormal testis morphology",
"Cryptorchidism",
- "Azoospermia",
"Recurrent urinary tract infections",
"Short palpebral fissure",
"Abnormal renal morphology",
@@ -248,8 +251,6 @@ def search():
"Scoliosis",
"Abnormal cardiac septum morphology",
"Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
"Abnormality of the urinary system",
"Irregular hyperpigmentation",
"Aplasia/Hypoplasia of the radius",
@@ -263,16749 +264,17188 @@ def search():
"Abnormality of blood and blood-forming tissues",
"Abnormal thumb morphology",
"Hypopigmented skin patches",
- "Abnormality of skin pigmentation",
],
"has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
- "UPHENO:0077889",
+ "HP:0001010",
+ "HP:0001873",
+ "UPHENO:0080010",
+ "CL:0000457",
"UPHENO:0077373",
- "UPHENO:0077391",
- "HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
+ "CL:0000233",
+ "CL:0000458",
+ "UPHENO:0085344",
+ "HP:0011875",
+ "UPHENO:0086173",
+ "HP:0011893",
"CL:0000738",
+ "UPHENO:0088166",
+ "UPHENO:0035160",
+ "UPHENO:0088319",
+ "UPHENO:0076675",
+ "UBERON:0000179",
"CL:0000255",
- "HP:0001881",
- "UPHENO:0063722",
+ "CL:0000219",
+ "UBERON:0000178",
+ "UPHENO:0077348",
"UPHENO:0085410",
- "UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
+ "UPHENO:0049904",
+ "GO:0008152",
"HP:0003220",
- "HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
"HP:0000002",
+ "UPHENO:0080351",
"UPHENO:0075159",
- "HP:0004322",
- "GO:0034101",
+ "HP:0010972",
+ "GO:0030099",
+ "GO:0030097",
+ "CL:0000988",
+ "GO:0048872",
+ "GO:0042592",
+ "GO:0002376",
+ "GO:0009987",
"HP:0001877",
- "HP:0001903",
- "GO:0030218",
+ "CL:0000232",
+ "HP:0005522",
+ "GO:0048871",
+ "GO:0048869",
+ "UPHENO:0088170",
"CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
"CL:0001035",
- "GO:0042592",
+ "GO:0030218",
+ "UPHENO:0088162",
"HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
- "UPHENO:0080187",
- "HP:0002818",
"UBERON:0015001",
- "UPHENO:0087510",
- "UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
- "HP:0001249",
+ "UPHENO:0080187",
+ "HP:0002650",
"HP:0200005",
- "UPHENO:0075944",
"UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
+ "UPHENO:0069119",
"UPHENO:0046755",
+ "UPHENO:0075198",
"UPHENO:0069562",
- "UBERON:0002405",
+ "HP:0000010",
+ "UPHENO:0002263",
"UPHENO:0002948",
- "UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
- "UPHENO:0052965",
- "UPHENO:0086172",
- "UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
- "UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
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"has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
"decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
+ "Hypopigmentation of the skin",
"Abnormal platelet morphology",
- "biogenic amine secreting cell",
"Thrombocytopenia",
- "Hypopigmented skin patches",
+ "Abnormal platelet count",
+ "decreased number of platelet",
+ "number of platelet phenotype",
"serotonin secreting cell",
- "decreased number of material anatomical entity in the multicellular organism",
- "decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
- "nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
"Abnormal immune system morphology",
- "number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
- "Abnormal leukocyte morphology",
- "homeostatic process phenotype",
- "metabolic process",
+ "Abnormal cellular immune system morphology",
+ "decreased number of hematopoietic cell",
+ "leukocyte",
+ "decreased number of anatomical structure in the multicellular organism",
+ "decreased number of leukocyte in the blood",
+ "decreased number of anatomical structure",
+ "Leukopenia",
+ "nucleate cell",
"motile cell",
- "decreased height of the anatomical entity",
- "Short stature",
+ "decreased number of anatomical entity in the blood",
+ "Abnormality of chromosome stability",
+ "Abnormal cellular physiology",
"decreased height of the multicellular organism",
- "multicellular organism height phenotype",
"decreased size of the multicellular organism",
- "Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
- "blood cell phenotype",
- "bone cell",
+ "size of multicellular organism phenotype",
+ "cellular developmental process",
+ "decreased number of anatomical entity in the multicellular organism",
+ "blood cell",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "Abnormal bone marrow cell morphology",
+ "Sideroblastic anemia",
+ "homeostatic process",
+ "immune system process",
+ "cellular process",
+ "erythrocyte differentiation",
+ "Abnormal erythroid lineage cell morphology",
+ "cell development",
+ "Abnormal myeloid cell morphology",
"Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
+ "hemopoiesis",
"erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
+ "homeostasis of number of cells",
+ "erythrocyte homeostasis",
+ "bone cell",
+ "aplasia or hypoplasia of radius bone",
"Abnormal morphology of the radius",
- "radius endochondral element",
"radius bone phenotype",
- "Abnormality of skull size",
- "cognition",
- "Scoliosis",
- "Almond-shaped palpebral fissure",
- "size of palpebral fissure phenotype",
+ "radius bone morphology phenotype",
+ "Neurodevelopmental delay",
+ "shape palpebral fissure",
+ "Abnormal shape of the palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "decreased size of the orifice",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
"decreased size of the palpebral fissure",
- "Recurrent infections",
- "immune system phenotype",
- "Recurrent urinary tract infections",
- "Abnormality of the immune system",
+ "decreased length of orifice",
+ "decreased length of anatomical conduit",
"immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
- "absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
- "absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
- "absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
- "male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
- "localised anatomical structure",
+ "Unusual infection",
+ "localised male reproductive organ",
+ "localised organ",
"Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
- "male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
- "urethra phenotype",
- "Abnormality of thrombocytes",
- "urethral opening",
+ "localised anatomical structure",
+ "ureter",
+ "excretory tube phenotype",
"Abnormal ureter morphology",
"Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
+ "Hypopigmented skin patches",
"Abnormality of the urinary system physiology",
+ "cavitated compound organ physiology phenotype",
"abdominal segment element physiology phenotype",
"kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
+ "Abnormal renal physiology",
+ "gonad physiology phenotype",
"decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cleft palate",
"incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
+ "Craniofacial cleft",
"incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
"increased size of the structure with developmental contribution from neural crest",
+ "anatomical entity height phenotype",
+ "increased height of the anatomical structure",
"High palate",
+ "increased height of the material anatomical entity",
"increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
+ "increased height of the anatomical entity",
+ "immune system morphology phenotype",
"increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
+ "increased height of the ectoderm-derived structure",
+ "increased size of the neural crest-derived structure",
+ "increased height of the multi-tissue structure",
+ "number of leukocyte phenotype",
+ "increased length of the ectoderm-derived structure",
+ "increased length of the organ part",
+ "increased length of the epicanthal fold",
"Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
+ "upper eyelid",
"skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
+ "head or neck skin",
+ "skin of face",
"zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
+ "increased size of the zone of organ",
+ "skin of head",
"asymmetry of anatomical entity phenotype",
+ "Abnormal leukocyte count",
"Facial asymmetry",
"asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
+ "Sloping forehead",
"forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
+ "sloped anatomical entity",
"lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
+ "dermal bone phenotype",
+ "increased height of the structure with developmental contribution from neural crest",
+ "intramembranous bone phenotype",
+ "bone element hypoplasia in face",
+ "secretory cell",
+ "bone of lower jaw phenotype",
+ "mandible morphology phenotype",
+ "mandible",
"dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
+ "facial bone hypoplasia",
+ "bone of lower jaw",
"anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
+ "skin of eyelid",
"Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
+ "mandible hypoplasia",
+ "sensory perception of sound",
"decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
+ "sloped forehead",
"sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "Hearing abnormality",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased system process",
+ "Hearing impairment",
+ "nose phenotype",
+ "naris",
+ "olfactory organ",
+ "compound organ physiology phenotype",
"posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
"naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
+ "posterior nasal aperture",
"Abnormal conjugate eye movement",
"Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
"visual perception",
- "Abnormality of vision",
+ "sensory perception of light stimulus",
"decreased qualitatively system process",
- "visual perception phenotype",
"decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
+ "sensory perception phenotype",
+ "decreased qualitatively nervous system process",
+ "Abnormality of globe size",
+ "sensory perception of light stimulus phenotype",
"size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
+ "decreased size of the ectoderm-derived structure",
+ "internal ear physiology phenotype",
"eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
+ "vestibulo-ocular reflex phenotype",
"Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
+ "Abnormality of eye movement",
+ "multi organ part structure physiology phenotype",
+ "Abnormal vestibular function",
+ "Aplasia/Hypoplasia of facial bones",
"bicornuate uterus",
- "female reproductive organ",
+ "female organism",
+ "internal female genitalia morphology phenotype",
+ "decreased functionality of the organ",
+ "oviduct",
"uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
+ "bicornuate anatomical entity",
+ "shape uterus",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the uterus",
+ "subdivision of oviduct phenotype",
+ "internal female genitalia",
+ "Abnormal finger phalanx morphology",
+ "Triphalangeal thumb",
+ "manual digitopodium bone",
+ "digit 1",
"manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
+ "decreased sensory perception",
"manual digit bone",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
"manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
+ "ureter morphology phenotype",
+ "skeleton of manual acropodium",
+ "skeleton of manual digitopodium",
+ "Abnormality of the immune system",
+ "manual digit phalanx endochondral element",
+ "facial bone phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "manus bone",
+ "excretory tube",
+ "manual digit 1 phalanx endochondral element",
"phalanx of manus",
"manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
"neuromuscular process",
+ "kinesthetic behavior",
"voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
+ "voluntary movement behavior phenotype",
+ "system process phenotype",
+ "reflex phenotype",
+ "increased response to stimulus",
+ "Recurrent urinary tract infections",
+ "involuntary movement behavior",
"response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
+ "reflex",
+ "increased qualitatively response to stimulus",
+ "Global developmental delay",
+ "reflexive behavior",
+ "behavior phenotype",
+ "Hyperreflexia",
+ "multicellular organismal movement phenotype",
"decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
+ "decreased qualitatively multicellular organismal process",
"anatomical structure development phenotype",
- "decreased qualitatively biological_process",
+ "multicellular organismal process phenotype",
"Growth delay",
- "Intrauterine growth retardation",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
+ "delayed growth",
+ "embryo development rate phenotype",
+ "embryo development phenotype",
+ "Abnormality of vision",
+ "anatomical wall phenotype",
+ "Hernia",
"Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
+ "digit 1 digitopodial skeleton",
+ "tissue phenotype",
"herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
+ "connective tissue",
+ "erythrocyte morphology phenotype",
+ "umbilicus",
+ "abdominal wall phenotype",
"herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
+ "facial skeleton",
+ "abdominal viscera",
+ "incomplete closing of the organ part",
+ "embryo phenotype",
"organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
+ "Renal insufficiency",
"late embryo",
- "bone of jaw phenotype",
+ "Abnormality of prenatal development or birth",
+ "uterus phenotype",
"Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
+ "response to external stimulus",
+ "Abnormality of the amniotic fluid",
+ "embryonic development/birth phenotype",
"cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
+ "metabolic process",
+ "Abnormal cardiac septum morphology",
+ "interatrial septum",
"Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
+ "cardiac septum",
"increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
+ "incomplete closing of the interventricular septum",
+ "Abnormality of thumb phalanx",
"increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
+ "cardiac septum morphology phenotype",
+ "right cardiac chamber phenotype",
+ "cardiac septum phenotype",
+ "increased size of the lateral structure",
"size of cardiac ventricle phenotype",
+ "interventricular septum morphology phenotype",
+ "heart right ventricle morphology phenotype",
+ "cardiac ventricle phenotype",
"septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
+ "incomplete closing of the cardiac septum",
+ "cardiac chamber morphology in the heart phenotype",
+ "hypertrophic cardiac ventricle",
+ "cardiac chamber phenotype",
+ "septum",
+ "increased size of the cardiac chamber",
+ "incomplete closing of the septum",
+ "Intrauterine growth retardation",
"decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
"mesoderm-derived structure physiology phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "decreased nervous system process",
+ "decreased functionality of the organ component layer",
+ "Abnormality of the abdominal wall",
+ "organ component layer physiology phenotype",
+ "heart layer phenotype",
"layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
+ "Abnormal choanae morphology",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "Hypertrophic cardiomyopathy",
+ "Abnormal myocardium morphology",
+ "decreased multicellular organism development",
+ "heart layer",
+ "decreased functionality of the anatomical entity",
+ "decreased multicellular organismal process",
+ "incomplete closing of the trunk blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "systemic artery phenotype",
+ "blood vessel phenotype",
+ "nervous system process phenotype",
+ "incomplete closing of the coronary vessel",
+ "coronary vessel morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
"incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "aplasia or hypoplasia of mandible",
+ "trunk blood vessel",
"trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
"vasculature of organ",
"vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
"heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "sensory perception of sound phenotype",
+ "response to stimulus",
+ "ductus arteriosus",
+ "incomplete closing of the artery",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "myeloid cell",
+ "incomplete closing of the blood vessel",
+ "anatomical entity morphology in the heart phenotype",
+ "Patent ductus arteriosus",
+ "anatomical structure morphology in the heart phenotype",
+ "hematopoietic cell",
"semi-lunar valve",
- "outflow tract of ventricle",
+ "neuromuscular process phenotype",
+ "heart",
+ "aortic valve morphology phenotype",
+ "platelet phenotype",
+ "Abnormal heart morphology",
+ "Abnormal heart valve morphology",
"semi-lunar valve morphology phenotype",
"heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
+ "internal ear",
+ "heart left ventricle",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "outflow part of left ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "cardiac valve",
+ "bone of jaw",
"aortic system",
- "aorta phenotype",
- "mandible",
+ "aortic valve",
+ "thoracic cavity blood vessel",
+ "great vessel of heart",
+ "Abnormal aortic morphology",
"aorta morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "great vessel of heart morphology phenotype",
"aorta",
- "great vessel of heart",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "longitudinal arch of pes",
+ "Pes planus",
"flat anatomical entity",
+ "flattened anatomical entity",
"shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
+ "trunk region element physiology phenotype",
+ "Toe syndactyly",
"fused anatomical entity and pedal digit",
+ "incomplete closing of the anatomical wall",
+ "pedal digit phenotype",
"anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
+ "platelet",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
"growth",
- "anatomical entity mass phenotype",
+ "radius bone",
+ "growth phenotype",
"Weight loss",
- "developmental process rate phenotype",
+ "obsolete cell",
+ "material anatomical entity mass phenotype",
+ "Decreased body weight",
"Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "anatomical structure mass phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal calvaria morphology",
+ "frontal cortex morphology phenotype",
+ "neurocranium morphology phenotype",
+ "olfactory system morphology phenotype",
+ "cranium morphology phenotype",
+ "Puberty and gonadal disorders",
+ "central nervous system cell part cluster",
+ "hypertrophic multicellular anatomical structure",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "shape of frontal cortex phenotype",
+ "primary subdivision of skull",
+ "cranium",
+ "frontal cortex",
+ "gray matter",
+ "dermal bone",
+ "aplasia or hypoplasia of skull",
+ "frontal lobe",
+ "pallium",
+ "prominent forehead",
+ "brain gray matter phenotype",
+ "forehead",
+ "tetrapod frontal bone",
"neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
+ "gray matter of forebrain phenotype",
+ "decreased number of cell",
+ "gray matter phenotype",
+ "cortex of cerebral lobe",
+ "primary subdivision of cranial skeletal system",
+ "vault of skull",
+ "cardiovascular system physiology phenotype",
+ "prominent anatomical entity",
+ "neurocranium",
+ "bone of craniocervical region",
+ "cranial bone",
+ "intramembranous bone",
+ "membrane bone",
"heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
+ "gray matter of forebrain",
"anus",
- "membrane bone",
- "zeugopodial skeleton",
+ "closing of the multicellular anatomical structure",
+ "material anatomical entity atresia",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "closing of the anatomical structure",
+ "anus morphology phenotype",
+ "bone marrow",
+ "anus atresia",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "Abnormal ileum morphology",
+ "parasympathetic nervous system",
+ "large intestine morphology phenotype",
+ "autonomic nervous system",
+ "Abnormal peripheral nervous system ganglion morphology",
+ "Abnormal autonomic nervous system morphology",
+ "ganglion of peripheral nervous system",
+ "Abnormal large intestine morphology",
+ "interatrial septum morphology phenotype",
+ "Abnormality of the autonomic nervous system",
+ "haemolymphatic fluid",
+ "ganglion morphology phenotype",
+ "enteric nervous system",
+ "Aganglionic megacolon",
+ "enteric ganglion",
+ "Megacolon",
+ "lower digestive tract",
+ "Abnormal ganglion morphology",
+ "stylopod",
+ "late embryo phenotype",
+ "valve",
+ "Abnormal femur morphology",
+ "decreased qualitatively pigmentation",
+ "increased length of the head or neck skin",
"innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
+ "hip joint morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "protruding anatomical entity",
+ "Abnormal pelvic girdle bone morphology",
+ "pelvic region of trunk",
"hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
+ "appendage girdle region",
+ "girdle skeleton",
+ "trunk bone",
+ "Lower extremity joint dislocation",
+ "Abnormal hip bone morphology",
+ "skeletal joint morphology phenotype",
+ "heart layer morphology phenotype",
+ "hip dislocation",
+ "skeletal joint phenotype",
+ "synovial joint morphology phenotype",
+ "girdle bone/zone",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "Hip dislocation",
+ "outflow part of left ventricle morphology phenotype",
+ "vertebral column",
+ "tube closure phenotype",
+ "ileum",
+ "embryonic tissue",
+ "forehead phenotype",
+ "neural tube closure",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "Vertebral arch anomaly",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "decreased pigmentation in multicellular organism",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
"anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
+ "Abnormal ear physiology",
"ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
+ "Abnormality of the vasculature",
+ "incomplete closing of the anatomical entity",
+ "postcranial axial skeleton",
+ "localised multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis",
+ "tube formation",
"eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "tissue morphogenesis",
+ "incomplete closing of the vessel",
+ "presumptive structure",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "entire sense organ system",
+ "formed organ part",
+ "bony vertebral centrum",
+ "cranial neuron projection bundle",
+ "Clubbing",
+ "head bone",
+ "shape digit",
+ "peripheral nervous system morphology phenotype",
+ "Abnormal spinal cord morphology",
+ "nerve phenotype",
+ "developmental process",
+ "increased size of the heart right ventricle",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "abdominal segment bone",
+ "Cranial nerve paralysis",
+ "increased number of multicellular anatomical structure",
+ "Spinal dysraphism",
+ "Frontal bossing",
+ "nerve",
+ "esophagus morphology phenotype",
+ "cranial nerve",
+ "internal naris atresia",
+ "musculature of body",
+ "nerve of head region",
+ "phenotype",
+ "anatomical space",
+ "pelvic appendage",
+ "body part movement",
+ "cranial nerve phenotype",
+ "artery phenotype",
+ "autopodial extension",
+ "Abnormal cranial nerve physiology",
+ "appendage girdle complex",
"Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
+ "reproductive process",
+ "kidney phenotype",
+ "limb morphology phenotype",
+ "cognition",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
"nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
+ "decreased functionality of the myocardium",
+ "limb bone phenotype",
+ "face",
+ "multicellular anatomical structure mass phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "bone of pectoral complex morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "vertebral column phenotype",
+ "Hernia of the abdominal wall",
+ "autopodial extension phenotype",
+ "Abnormal forearm bone morphology",
+ "forelimb zeugopod morphology phenotype",
+ "limb skeleton subdivision",
+ "femur",
+ "skull",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "vault of skull phenotype",
+ "epithelium development",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Abnormal peripheral nervous system morphology",
+ "arm bone phenotype",
+ "olfactory organ phenotype",
+ "multi-limb segment region phenotype",
+ "Nystagmus",
+ "esophagus",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "endochondral element phenotype",
+ "forelimb bone phenotype",
+ "bone element",
+ "decreased reproductive process",
"skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
+ "zeugopod",
+ "system development",
+ "pectoral appendage",
+ "deviation of manual digit 5 towards the middle",
+ "bony vertebral centrum morphology phenotype",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "olfactory system",
+ "Neoplasm by anatomical site",
+ "limb",
+ "increased size of the material anatomical entity",
+ "respiratory system",
"hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
+ "Small intestinal stenosis",
+ "flat longitudinal arch of pes",
+ "neuron projection bundle phenotype",
+ "Abnormal morphology of ulna",
+ "multicellular organismal reproductive process",
+ "Abnormality of the musculoskeletal system",
+ "Microcephaly",
+ "pectoral appendage skeleton",
+ "alimentary part of gastrointestinal system phenotype",
+ "ulna endochondral element",
+ "localised gonad",
+ "paired limb/fin",
+ "incomplete closing of the skeletal element",
+ "absent sperm",
+ "subdivision of skeleton",
+ "shape of forehead phenotype",
"endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
+ "decreased number of anatomical entity",
+ "Abnormal forebrain morphology",
+ "Abnormal forearm morphology",
"vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "vertebral element",
+ "pelvic region element phenotype",
+ "viscus",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "bone of free limb or fin",
+ "arch of centrum of vertebra phenotype",
+ "limb endochondral element",
+ "neural tube formation",
+ "neuron projection bundle",
+ "digestive system gland phenotype",
+ "increased length of the skin of eyelid",
"internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
+ "Abnormal appendicular skeleton morphology",
"paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
"Abnormal internal genitalia",
+ "localised testis",
+ "decreased qualitatively sensory perception of light stimulus",
+ "forelimb morphology phenotype",
+ "Myelodysplasia",
+ "Abnormal blood vessel morphology",
+ "parasympathetic ganglion",
+ "formed ectoderm-derived structure",
+ "decreased size of the arm bone",
+ "cardiovascular system phenotype",
+ "anatomical cluster phenotype",
+ "blood",
+ "Abnormal morphology of female internal genitalia",
+ "anatomical cluster",
+ "Functional abnormality of male internal genitalia",
+ "acropodium region",
+ "coronary vessel",
+ "cranial nerve physiology phenotype",
+ "ventricle of nervous system",
+ "paralysed anatomical entity",
+ "multi-limb segment region",
+ "blood vessel",
+ "compound organ",
+ "eye",
+ "venous system",
+ "outflow tract",
+ "germ cell",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "upper urinary tract phenotype",
+ "Abnormal jaw morphology",
+ "Meckel diverticulum",
+ "irregular bone",
+ "organism",
+ "secondary palate",
+ "male reproductive organ morphology phenotype",
"skeleton of digitopodium",
- "anatomical entity atresia",
+ "myeloid cell homeostasis",
+ "glans penis",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "Abnormal preputium morphology",
+ "penis morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "mouth phenotype",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
+ "cornea morphology phenotype",
+ "leg bone",
+ "Abnormal skin morphology",
+ "multi-tissue structure phenotype",
+ "opaque anatomical entity",
+ "decreased anatomical structure mass",
+ "forelimb zeugopod bone phenotype",
+ "pigmentation",
+ "developing anatomical structure",
+ "skeleton of limb",
+ "Abnormality of skin pigmentation",
+ "female reproductive system",
+ "dermal skeleton",
+ "phenotypic effect",
+ "aplasia or hypoplasia of iris",
+ "pigmentation phenotype",
+ "heart left ventricle morphology phenotype",
"individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
+ "Umbilical hernia",
+ "Arteriovenous malformation",
+ "increased size of the multi-tissue structure",
+ "head bone morphology phenotype",
+ "Abnormal eye morphology",
+ "incomplete closing of the secondary palate",
+ "increased length of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "integument",
+ "Abnormal connection of the cardiac segments",
+ "leg phenotype",
+ "cardiac atrium",
+ "Abnormality of the integument",
+ "genitourinary system phenotype",
+ "Abnormality of the forehead",
"mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
+ "multicellular organismal process",
+ "bone of pelvic complex",
+ "system process",
+ "sensory perception",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "process",
+ "Abnormal shape of the frontal region",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "autopod endochondral element",
"shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
+ "mandible phenotype",
+ "autonomic ganglion",
+ "axial skeletal system",
+ "brain",
+ "ventricular system of central nervous system",
+ "neural crest-derived structure, curved phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "musculature phenotype",
+ "reproductive system physiology phenotype",
+ "myeloid cell differentiation",
+ "increased number of organ part",
+ "decreased biological_process in skin of body",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "decreased length of forelimb zeugopod bone",
+ "digit 1 plus metapodial segment",
+ "Abnormality of the anus",
+ "cerebrospinal fluid morphology phenotype",
+ "synovial joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "facial bone",
+ "increased number of brain ventricle",
+ "Recurrent infections",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "size of heart right ventricle phenotype",
+ "Abnormality of the urinary system",
+ "incomplete closing of the neural crest-derived structure",
+ "Abnormal cerebrospinal fluid morphology",
+ "external soft tissue zone",
+ "Abnormal mandible morphology",
+ "skeletal system phenotype",
+ "male gamete generation phenotype",
"digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
+ "head",
+ "internal genitalia phenotype",
"bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
+ "Abnormal esophagus morphology",
+ "increased number of anatomical structure in the cerebrospinal fluid",
"organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
+ "multicellular organismal-level homeostasis",
"chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
+ "anterior segment of eyeball",
+ "Abnormal morphology of the great vessels",
+ "pectoral complex",
+ "Abnormality of the peripheral nervous system",
+ "trunk region element",
+ "endoderm-derived structure",
+ "lateral structure",
"Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
+ "digestive system element",
+ "Abnormal digestive system morphology",
+ "Tracheoesophageal fistula",
+ "spinal cord morphology phenotype",
+ "Abnormal cardiac atrium morphology",
+ "Neoplasm",
+ "Abnormal intestine morphology",
+ "nervous system process",
+ "limb bone morphology phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "Abnormal gastrointestinal tract morphology",
+ "embryonic morphogenesis",
+ "phalanx of pes morphology phenotype",
+ "body proper",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "tunica fibrosa of eyeball",
+ "anatomical structure physiology phenotype",
+ "mesoderm-derived structure phenotype",
+ "appendage",
+ "Abnormal facial shape",
+ "location of anatomical entity phenotype",
+ "tube morphogenesis",
+ "camera-type eye morphology phenotype",
+ "brain gray matter",
+ "embryo development",
+ "Abnormal tracheobronchial morphology",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "size of brain ventricle phenotype",
+ "limb phenotype",
+ "Abnormal anterior eye segment morphology",
+ "organ subunit",
+ "absent sperm in the semen",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "connective tissue phenotype",
"increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
+ "digestive tract",
+ "face morphology phenotype",
+ "Abnormal external genitalia",
+ "arm phenotype",
+ "digestive system phenotype",
+ "Abnormal respiratory system physiology",
+ "reproductive structure physiology phenotype",
+ "Short stature",
+ "Abnormality of the vertebral column",
+ "reproductive organ physiology phenotype",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "male reproductive organ",
+ "sensory perception of mechanical stimulus phenotype",
+ "internal naris phenotype",
+ "disconnected anatomical group",
+ "cerebral cortex",
+ "tracheobronchial tree",
+ "decreased size of the forelimb bone",
+ "tube development",
+ "multicellular anatomical structure phenotype",
+ "Abnormal toe morphology",
+ "Anemia",
+ "morphological feature",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Abnormality of the urethra",
+ "immaterial entity",
+ "Abnormal systemic arterial morphology",
+ "renal system",
"peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
+ "Abnormal anterior chamber morphology",
+ "zeugopodial skeleton",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "immune system",
+ "endocrine system",
+ "sense organ physiology phenotype",
+ "ear physiology phenotype",
+ "uterus morphology phenotype",
+ "Abnormal neural tube morphology",
+ "Abnormal enteric ganglion morphology",
+ "excretory system",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "male reproductive system",
+ "forelimb endochondral element",
+ "physiologic nystagmus",
+ "hemolymphoid system",
+ "organ subunit phenotype",
+ "respiratory tract",
+ "amniotic fluid phenotype",
+ "respiratory tube",
+ "glans",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "developmental process phenotype",
+ "limb endochondral element phenotype",
+ "blood vasculature",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "increased reflex",
+ "long bone",
+ "material entity",
"cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
+ "number of sperm phenotype",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Slanting of the palpebral fissure",
+ "decreased length of limb bone",
+ "structure with developmental contribution from neural crest",
+ "intromittent organ phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "pelvic girdle bone/zone morphology phenotype",
+ "Neural tube defect",
+ "prepuce",
+ "decreased male gamete generation",
+ "organ system subdivision",
"Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
+ "skeletal system morphology phenotype",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "Abnormal peripheral nerve morphology by anatomical site",
+ "independent continuant",
+ "anatomical line between pupils",
+ "reproductive system",
+ "thoracic cavity element",
+ "skeleton",
+ "multicellular organism",
+ "Abnormality of the orbital region",
"decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
+ "roof of mouth",
+ "neural tube development",
+ "external genitalia",
+ "camera-type eye",
+ "decreased number of myeloid cell",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "forelimb zeugopod bone",
"head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "penis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "Abnormal form of the vertebral bodies",
+ "upper urinary tract",
+ "right cardiac chamber",
+ "manual digitopodium region",
+ "gray matter of telencephalon",
+ "urethral meatus",
"dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
+ "Abnormality of the cardiovascular system",
+ "central nervous system gray matter layer",
+ "pedal digit bone",
+ "increased length of the non-material anatomical boundary",
+ "chamber of eyeball",
+ "Clinodactyly",
+ "palatine uvula",
+ "reproductive structure phenotype",
+ "quality",
+ "central nervous system cell part cluster phenotype",
+ "anatomical collection phenotype",
+ "Abnormal toe phalanx morphology",
+ "arch of centrum of vertebra",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "increased length of the skin of face",
+ "decreased size of the limb bone",
+ "central nervous system morphology phenotype",
+ "shape of external ear phenotype",
+ "anatomical conduit phenotype",
+ "skeleton of lower jaw",
+ "common carotid artery plus branches morphology phenotype",
+ "eyelid",
"endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
+ "Abnormality of the ear",
+ "decreased qualitatively developmental process involved in reproduction",
+ "Abnormal male urethral meatus morphology",
+ "reproductive structure",
+ "epithelial tube",
+ "decreased height of the anatomical entity",
+ "decreased developmental process involved in reproduction",
+ "Abnormality of the eye",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "anatomical system",
"upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
+ "sense organ phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "Abnormality of reproductive system physiology",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "pedal digit phalanx endochondral element",
+ "organ",
+ "pedal digit plus metapodial segment",
+ "Phenotypic abnormality",
+ "multicellular anatomical structure physiology phenotype",
+ "increased number of organ component layer",
+ "nervous system",
+ "anatomical projection phenotype",
+ "anatomical system physiology phenotype",
+ "Displacement of the urethral meatus",
+ "organ part physiology phenotype",
+ "skin of body morphology phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "Abnormality of immune system physiology",
+ "localised anatomical entity",
+ "organ system subdivision phenotype",
"simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
+ "homeostatic process phenotype",
+ "behavior",
+ "abdomen element",
+ "protruding eyeball of camera-type eye",
+ "embryonic epithelial tube formation",
+ "respiratory airway",
+ "subdivision of trunk",
+ "multicellular organismal movement",
+ "fused anatomical entity and anatomical entity",
"neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
+ "male urethra",
+ "organ part",
+ "Decreased bone element mass density",
+ "material anatomical entity phenotype",
+ "Short palpebral fissure",
+ "umbilicus morphology phenotype",
+ "Abnormal skeletal morphology",
+ "increased pigmentation",
+ "Abnormality of the genital system",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "Abnormal ventriculoarterial connection",
"alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
+ "shape of continuant phenotype",
+ "deviation of digit towards the middle",
+ "lower urinary tract",
"Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
+ "jaw region",
+ "artery",
+ "telencephalon phenotype",
+ "curved anatomical entity",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "subdivision of organism along appendicular axis",
+ "decreased length of endochondral element",
+ "Abnormal cell morphology",
+ "Abnormal palate morphology",
+ "articulation",
+ "cornea, curved phenotype",
+ "mesoderm-derived structure",
+ "autopod bone",
+ "system",
+ "anatomical structure, curved phenotype",
+ "brain morphology phenotype",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "musculoskeletal movement phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "transparent eye structure",
+ "dentary",
+ "behavior process phenotype",
+ "femur endochondral element",
+ "organ component layer phenotype",
+ "subdivision of tube",
+ "Abnormality of the inner ear",
+ "vertebra morphology phenotype",
+ "Decreased fertility in males",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "subdivision of oviduct",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "cerebral cortex morphology phenotype",
+ "urethra phenotype",
+ "Abnormality of the lower urinary tract",
+ "Hypogonadism",
+ "urethral opening",
+ "arm bone",
+ "skeleton of pectoral complex",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "increased size of the zone of skin",
+ "cornea phenotype",
+ "formed chamber of eyeball",
+ "Decreased head circumference",
+ "anatomical entity",
+ "localised material anatomical entity",
+ "ear phenotype",
+ "musculoskeletal movement",
+ "decreased qualitatively biological_process",
+ "increased volume of anatomical entity",
+ "forelimb bone",
+ "Abnormal uvula morphology",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "Intellectual disability",
+ "embryonic structure",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "proximo-distal subdivision of respiratory tract",
+ "Abnormal penis morphology",
+ "appendage phenotype",
+ "Hypoplastic facial bones",
+ "organism subdivision phenotype",
+ "arm",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "ocular surface region",
+ "thoracic segment of trunk",
+ "bone of jaw phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
"tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
"pes bone",
+ "renal pelvis/ureter",
+ "male urethral meatus",
+ "primary neural tube formation",
+ "Abnormality of the respiratory system",
+ "segment of autopod",
+ "ductus arteriosus morphology phenotype",
+ "increased pigmentation in skin of body",
+ "cranial neuron projection bundle phenotype",
+ "Abnormal male reproductive system physiology",
+ "reproductive organ",
+ "Abnormality of the digestive system",
+ "anatomical structure development",
+ "arterial blood vessel",
+ "decreased spermatogenesis",
+ "limb segment",
+ "external genitalia phenotype",
+ "nervous system cell part layer",
+ "aplasia or hypoplasia of uvea",
+ "size of palpebral fissure phenotype",
+ "vestibulo-ocular reflex",
"neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
+ "Abnormality of refraction",
+ "digit 5",
+ "Abnormal curvature of the vertebral column",
+ "multi cell part structure phenotype",
+ "ureter phenotype",
+ "hematopoietic system",
+ "multicellular anatomical structure",
+ "reproductive system phenotype",
+ "hindlimb endochondral element",
+ "ventricular system of brain",
+ "innominate bone morphology phenotype",
+ "eye phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal vertebral morphology",
+ "Abnormal male external genitalia morphology",
+ "localised reproductive organ",
+ "glandular system",
+ "myocardium",
+ "external ear",
+ "decreased length of bone of appendage girdle complex",
+ "bone of appendage girdle complex",
+ "anatomical wall",
+ "closing of the material anatomical entity",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "sensory system",
+ "Scoliosis",
+ "multicellular anatomical structure, curved phenotype",
+ "Almond-shaped palpebral fissure",
+ "response to stimulus phenotype",
+ "Abdominal wall defect",
"material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere",
- ],
- "has_phenotype_count": 106,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:1011503",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, dog",
- "full_name": None,
- "deprecated": None,
- "description": "Fanconi syndrome that occurs in dog.",
- "xref": ["OMIA:000366-9615"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": None,
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0007600",
- "category": "biolink:Disease",
- "name": "primary Fanconi syndrome",
- "full_name": None,
- "deprecated": None,
- "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.",
- "xref": ["GARD:9118", "MEDGEN:341765", "NCIT:C123229", "Orphanet:3337", "UMLS:C1857395"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0002206",
- "HP:0001943",
- "HP:0003774",
- "HP:0002150",
- "HP:0001944",
- "HP:0012622",
- "HP:0012606",
- "HP:0004912",
- "HP:0003537",
- "HP:0003234",
- "HP:0003081",
- "HP:0002900",
- "HP:0002749",
- "HP:0002659",
- "HP:0002653",
- "HP:0002148",
- "HP:0001824",
- "HP:0001324",
- "HP:0032943",
- "HP:0004918",
- "HP:0004910",
- "HP:0003646",
- "HP:0003149",
- "HP:0003126",
- "HP:0003076",
- "HP:0002909",
- "HP:0002049",
- "HP:0001510",
- "HP:0000117",
- ],
- "has_phenotype_label": [
- "Pulmonary fibrosis",
- "Hypoglycemia",
- "Stage 5 chronic kidney disease",
- "Hypercalciuria",
- "Dehydration",
- "Chronic kidney disease",
- "Renal sodium wasting",
- "Hypophosphatemic rickets",
- "Hypouricemia",
- "Decreased circulating carnitine concentration",
- "Increased urinary potassium",
- "Hypokalemia",
- "Osteomalacia",
- "Increased susceptibility to fractures",
- "Bone pain",
- "Hypophosphatemia",
- "Weight loss",
- "Muscle weakness",
- "Abnormal urine pH",
- "Hyperchloremic metabolic acidosis",
- "Bicarbonate-wasting renal tubular acidosis",
- "Bicarbonaturia",
- "Hyperuricosuria",
- "Low-molecular-weight proteinuria",
- "Glycosuria",
- "Generalized aminoaciduria",
- "Proximal renal tubular acidosis",
- "Growth delay",
- "Renal phosphate wasting",
- ],
- "has_phenotype_closure": [
- "HP:0000117",
- "UPHENO:0000541",
- "UPHENO:0051739",
- "HP:0040156",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "HP:0012072",
- "UPHENO:0046286",
- "CHEBI:33839",
- "HP:0020129",
- "CHEBI:15841",
- "HP:0000093",
- "HP:0003126",
- "HP:0001992",
- "CHEBI:33256",
- "CHEBI:37622",
- "UPHENO:0051608",
- "UPHENO:0068024",
- "UPHENO:0051714",
- "CHEBI:17544",
- "UPHENO:0051619",
- "CHEBI:35604",
- "UPHENO:0024906",
- "CHEBI:16541",
- "UPHENO:0004791",
- "UPHENO:0003430",
- "UBERON:0000479",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066964",
- "UBERON:0009773",
- "UBERON:0007684",
- "UPHENO:0066927",
- "UPHENO:0066913",
- "UPHENO:0002564",
- "UPHENO:0066951",
- "UBERON:0006555",
- "UPHENO:0003381",
- "UPHENO:0005201",
- "UBERON:0004819",
- "UPHENO:0066946",
- "HP:0004910",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0000483",
- "UPHENO:0003941",
- "HP:0004360",
- "HP:0001942",
- "HP:0001941",
- "UPHENO:0003047",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0001824",
- "UPHENO:0010799",
- "HP:0001995",
- "UPHENO:0010795",
- "GO:0040007",
- "UPHENO:0054315",
- "HP:0002653",
- "CHEBI:36914",
- "CHEBI:36915",
- "HP:0010930",
- "HP:0002900",
- "UPHENO:0089756",
- "UPHENO:0068296",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0003081",
- "CHEBI:33674",
- "CHEBI:22563",
- "UPHENO:0005285",
- "GO:0043227",
- "UPHENO:0089739",
- "UPHENO:0084541",
- "HP:0010966",
- "HP:0002909",
- "CHEBI:36586",
- "CHEBI:18059",
- "UPHENO:0082794",
- "CHEBI:64709",
- "HP:0003287",
- "CHEBI:17126",
- "GO:0005737",
- "GO:0043226",
- "HP:0003234",
- "UPHENO:0034319",
- "UPHENO:0084537",
- "CHEBI:33608",
- "CHEBI:25696",
- "CHEBI:24651",
- "CHEBI:33273",
- "CHEBI:25741",
- "HP:0011279",
- "GO:0043231",
- "UPHENO:0051979",
- "CHEBI:24835",
- "GO:0110165",
- "CHEBI:35284",
- "UPHENO:0046337",
- "UPHENO:0082761",
- "HP:0012531",
- "CHEBI:36587",
- "HP:0012610",
- "CHEBI:51151",
- "CHEBI:35406",
- "GO:0005575",
- "HP:0004359",
- "CHEBI:24833",
- "UPHENO:0051881",
- "CHEBI:26469",
- "HP:0002749",
- "CHEBI:35281",
- "CHEBI:35366",
- "CHEBI:33575",
- "UPHENO:0089745",
- "HP:0002157",
- "UPHENO:0010850",
- "HP:0011843",
- "CHEBI:35605",
- "HP:0004364",
- "UBERON:0001630",
- "HP:0025142",
- "CHEBI:33672",
- "CHEBI:24532",
- "CHEBI:33659",
- "HP:0010932",
- "CHEBI:25810",
- "UPHENO:0068251",
- "UPHENO:0046383",
- "HP:6000531",
- "UPHENO:0051736",
- "CHEBI:72695",
- "CHEBI:35875",
- "UPHENO:0068442",
- "CHEBI:33655",
- "CHEBI:33636",
- "UPHENO:0068064",
- "CHEBI:33832",
- "CHEBI:27171",
- "CHEBI:33833",
- "CHEBI:38101",
- "UPHENO:0010808",
- "UPHENO:0066781",
- "HP:0002049",
- "CHEBI:24867",
- "CHEBI:37577",
- "UPHENO:0002964",
- "CHEBI:33635",
- "HP:0033127",
- "HP:0025354",
- "HP:0003330",
- "UBERON:0001434",
- "HP:0011849",
- "HP:0004912",
- "UPHENO:0004459",
- "UPHENO:0050433",
- "UPHENO:0002554",
- "UPHENO:0066921",
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- ],
- "has_phenotype_closure_label": [
- "Abnormal urine phosphate concentration",
- "Renal phosphate wasting",
- "delayed biological_process",
- "Growth delay",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "increased level of carboxylic acid in urine",
- "Glycosuria",
- "increased level of monosaccharide in urine",
- "primary amide",
- "organic amino compound",
- "Proximal renal tubular acidosis",
- "polypeptide",
- "Hyperuricosuria",
- "macromolecule",
- "increased level of purines",
- "Abnormal urinary organic compound level",
- "urine organic anion level phenotype",
- "hydrogencarbonate level phenotype",
- "decreased functionality of the material anatomical entity",
- "decreased functionality of the anatomical structure",
- "Renal tubular acidosis",
- "epithelial tube phenotype",
- "excretory tube physiology phenotype",
- "tissue phenotype",
- "tube physiology phenotype",
- "Bicarbonate-wasting renal tubular acidosis",
- "anatomical conduit physiology phenotype",
- "decreased functionality of the tissue",
- "renal tubule",
- "decreased functionality of the multicellular anatomical structure",
- "anatomical entity dysfunction in independent continuant",
- "nephron tubule phenotype",
- "Renal tubular dysfunction",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "excretory tube",
- "kidney epithelium",
- "tissue",
- "excretory tube phenotype",
- "epithelium phenotype",
- "decreased functionality of the kidney epithelium",
- "Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Abnormal urine pH",
- "muscle structure",
- "protein polypeptide chain",
- "muscle organ physiology phenotype",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Aciduria",
- "muscle organ phenotype",
- "Muscle weakness",
- "Decreased body weight",
- "material anatomical entity mass phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "Growth abnormality",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "hydrogencarbonate",
- "multicellular anatomical structure mass phenotype",
- "multicellular organism mass phenotype",
- "Pain",
- "Constitutional symptom",
- "musculoskeletal system physiology phenotype",
- "Abnormal musculoskeletal physiology",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "Osteomalacia",
- "cation",
- "blood potassium atom level phenotype",
- "blood cation level phenotype",
- "blood monovalent inorganic cation level phenotype",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "Generalized aminoaciduria",
- "Abnormal blood potassium concentration",
- "monovalent inorganic cation",
- "potassium atom level phenotype",
- "potassium atom",
- "urine glucose level phenotype",
- "Decreased anatomical entity mass",
- "Abnormality of mitochondrial metabolism",
- "polyatomic ion",
- "fatty acid level phenotype",
- "carnitine",
- "amino acid",
- "Abnormal circulating carnitine concentration",
- "Abnormality of the mitochondrion",
- "cell phenotype",
- "carbonyl compound",
- "urine phosphate level phenotype",
- "zwitterion",
- "organic acid",
- "blood carboxylic acid level phenotype",
- "epithelium",
- "Abnormal circulating monocarboxylic acid concentration",
- "decreased level of amino-acid betaine",
- "cytoplasm",
- "amino-acid betaine level phenotype",
- "monocarboxylic acid",
- "cellular_component",
- "amino-acid betaine",
- "Abnormal circulating fatty-acid concentration",
- "Abnormal circulating lipid concentration",
- "onium betaine",
- "fatty acid",
- "carboxylic acid",
- "fatty acid anion",
- "hydrogen molecular entity",
- "Abnormal cellular phenotype",
- "organic anion",
- "Abnormal circulating carboxylic acid concentration",
- "polyatomic anion",
- "oxide",
- "intracellular membrane-bounded organelle",
- "obsolete cell",
- "dipolar compound",
- "carboxylic acid anion",
- "Abnormality of body weight",
- "oxoacid",
- "increased level of hydrogencarbonate in urine",
- "carbon oxoacid",
- "oxoanion",
- "cellular anatomical entity",
- "Weight loss",
- "cellular_component phenotype",
- "Bone pain",
- "uric acid",
- "increased level of nitrogen molecular entity in blood",
- "nephron epithelium phenotype",
- "oxopurine",
- "hydroxides",
- "purines",
- "decreased level of purines",
- "heteropolycyclic compound",
- "heterobicyclic compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "nucleobase",
- "imidazopyrimidine",
- "Low-molecular-weight proteinuria",
- "intracellular anatomical structure",
- "organonitrogen heterocyclic compound",
- "urine hydrogencarbonate level phenotype",
- "decreased muscle organ strength",
- "organic heterobicyclic compound",
- "cyclic compound",
- "decreased functionality of the epithelium",
- "Decreased multicellular organism mass",
- "organic molecule",
- "Hyperchloremic metabolic acidosis",
- "quaternary nitrogen compound",
- "polycyclic compound",
- "aromatic compound",
- "decreased anatomical structure mass",
- "heterocyclic compound",
- "nitrogen molecular entity",
- "musculature",
- "musculature of body",
- "decreased level of phosphate in blood",
- "Abnormal urine carboxylic acid level",
- "blood carnitine level phenotype",
- "Reduced bone mineral density",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "bone element mass density phenotype",
- "musculoskeletal system phenotype",
- "monoatomic ion",
- "monoatomic entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "Abnormality of bone mineral density",
- "Hypouricemia",
- "musculoskeletal system",
- "anatomical entity mass density phenotype",
- "phosphoric acid derivative",
- "Abnormal circulating nucleobase concentration",
- "monosaccharide",
- "haemolymphatic fluid",
- "nephron tubule",
- "blood nucleobase level phenotype",
- "heteroarene",
- "organism substance",
- "occurrent",
- "decreased functionality of the epithelial tube",
- "Abnormal circulating fatty-acid anion concentration",
- "blood oxygen molecular entity level phenotype",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "process",
- "glucose homeostasis phenotype",
- "musculature of body phenotype",
- "Abnormality of blood and blood-forming tissues",
- "epithelium physiology phenotype",
- "abdominal segment of trunk",
- "excreta",
- "chemical entity",
- "molecular entity",
- "lung morphology phenotype",
- "organic ion",
- "kidney physiology phenotype",
- "organic molecular entity",
- "Pulmonary fibrosis",
- "main group molecular entity",
- "blood carbohydrate level phenotype",
- "anatomical collection phenotype",
- "mitochondrion phenotype",
- "blood chemical entity level phenotype",
- "heteroorganic entity",
- "increased level of potassium atom in urine",
- "trunk phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "lateral structure phenotype",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "endoderm-derived structure",
- "inorganic molecular entity",
- "metabolic process",
- "urine potassium atom level phenotype",
- "anatomical system",
- "Abnormal glucose homeostasis",
- "Abnormality of urine calcium concentration",
- "tube",
- "anatomical entity physiology phenotype",
- "carboxamide",
- "compound organ",
- "organic heteropolycyclic compound",
- "trunk region element",
- "quality",
- "Abnormal cellular physiology",
- "subdivision of trunk phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of organism along main body axis",
- "anatomical entity morphology in the respiratory system phenotype",
- "renal tubule phenotype",
- "organ",
- "aldose",
- "epithelial tube physiology phenotype",
- "ion",
- "nephron",
- "cell",
- "material anatomical entity phenotype",
- "decreased level of uric acid in blood",
- "Abnormal circulating organic compound concentration",
- "Abnormal muscle physiology",
- "blood organic molecular entity level phenotype",
- "carbon group molecular entity",
- "regulation of body fluid levels phenotype",
- "Abnormality of the musculoskeletal system",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "Abnormal lung morphology",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "blood monoatomic ion level phenotype",
- "material anatomical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "skeletal system",
- "carbohydrate",
- "blood fatty acid anion level phenotype",
- "subdivision of organism along main body axis phenotype",
- "Hypophosphatemia",
- "tube phenotype",
- "genitourinary system phenotype",
- "increased level of protein polypeptide chain in urine",
- "Increased urinary potassium",
- "Abnormal urine potassium concentration",
- "organic oxo compound",
- "Abnormality of metabolism/homeostasis",
- "organism subdivision phenotype",
- "increased level of chemical entity in blood",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "bicyclic compound",
- "renal system physiology phenotype",
- "Abnormal respiratory system physiology",
- "urine chemical entity level phenotype",
- "organ phenotype",
- "ossification",
- "Abnormal respiratory system morphology",
- "Abnormality of the respiratory system",
- "peptide",
- "Acidosis",
- "phenotype",
- "thoracic segment organ",
- "biological_process",
- "thoracic segment organ phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "Abnormal bone ossification",
- "homeostatic process",
- "carbohydrate homeostasis phenotype",
- "respiratory system phenotype",
- "carbon oxoanion",
- "anatomical conduit",
- "acid bodily fluid level phenotype",
- "lung fibrosis",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "haemolymphatic fluid phenotype",
- "urine uric acid level phenotype",
- "thoracic cavity element phenotype",
- "anatomical structure",
- "anion",
- "organ physiology phenotype",
- "nephron epithelium",
- "lipid",
- "homeostatic process phenotype",
- "organism subdivision",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "oxoacid derivative",
- "respiration organ",
- "thoracic cavity element",
- "proximo-distal subdivision of respiratory tract",
- "subdivision of tube",
- "anatomical conduit phenotype",
- "viscus",
- "organ system subdivision",
- "decreased functionality of the anatomical entity",
- "organic cyclic compound",
- "organ part phenotype",
- "molecule",
- "hematopoietic system phenotype",
- "trunk",
- "s-block element atom",
- "multicellular anatomical structure phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "cavitated compound organ physiology phenotype",
- "pair of lungs",
- "atom",
- "anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "Abnormal circulating nitrogen compound concentration",
- "viscus phenotype",
- "organ part",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "carbohydrates and carbohydrate derivatives",
- "alkaline earth metal atom",
- "subdivision of tube phenotype",
- "upper urinary tract phenotype",
- "specifically dependent continuant",
- "Abnormal pulmonary interstitial morphology",
- "inorganic cation",
- "urine sodium atom level phenotype",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "taxon specific phenotype",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "entity",
- "body proper",
- "respiration organ phenotype",
- "independent continuant",
- "organism substance phenotype",
- "regulation of body fluid levels",
- "multicellular organism",
- "lateral structure",
- "Hypoglycemia",
- "lower respiratory tract",
- "heteroatomic molecular entity",
- "All",
- "bodily fluid",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "respiratory system",
- "respiratory airway",
- "respiratory system physiology phenotype",
- "anatomical system phenotype",
- "organooxygen compound",
- "glucose homeostasis",
- "biological regulation",
- "bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "Abnormal circulating metabolite concentration",
- "multicellular organism chemical entity level phenotype",
- "increased level of uric acid in urine",
- "decreased functionality of the excretory tube",
- "carbohydrate homeostasis",
- "abdomen element phenotype",
- "decreased functionality of the anatomical conduit",
- "hexose",
- "blood glucose level phenotype",
- "Abnormal circulating carbohydrate concentration",
- "Abnormal renal physiology",
- "Abnormal urine sodium concentration",
- "chemical homeostasis phenotype",
- "uriniferous tubule",
- "abdomen",
- "kidney",
- "Abnormal blood glucose concentration",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "thoracic segment of trunk",
- "chemical homeostasis",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "epithelial tube",
- "blood lipid level phenotype",
- "blood fatty acid level phenotype",
- "Abnormality of the upper urinary tract",
- "abdominal segment element physiology phenotype",
- "amino acid derivative",
- "phosphorus oxoacids and derivatives",
- "aldohexose",
- "mitochondrion",
- "compound organ physiology phenotype",
- "calcium atom level phenotype",
- "organic heterocyclic compound",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "Chronic kidney disease",
- "monocarboxylic acid anion",
- "abdominal segment element",
- "cavitated compound organ",
- "material entity",
- "abdomen element",
- "renal system phenotype",
- "tissue physiology phenotype",
- "cavitated compound organ phenotype",
- "renal system",
- "growth",
- "inorganic ion",
- "Hypophosphatemic rickets",
- "lateral structure physiology phenotype",
- "decreased level of chemical entity in blood",
- "Decreased circulating carnitine concentration",
- "intracellular organelle",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element physiology phenotype",
- "Renal insufficiency",
- "decreased anatomical entity strength",
- "glucose",
- "sodium atom level phenotype",
- "renal/urinary system phenotype",
- "Renal sodium wasting",
- "trunk region element physiology phenotype",
- "Abnormal skeletal morphology",
- "regulation of biological quality phenotype",
- "decreased role blood level",
- "kidney phenotype",
- "anatomical entity",
- "upper urinary tract",
- "calcium atom",
- "decreased level of carnitine in blood",
- "lung phenotype",
- "Dehydration",
- "abdominal segment element phenotype",
- "amino acid derivative level phenotype",
- "phosphate",
- "blood monocarboxylic acid level phenotype",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormality of the kidney",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "urine calcium atom level phenotype",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "Stage 5 chronic kidney disease",
- "increased level of calcium atom in urine",
- "Hypokalemia",
- "Hypercalciuria",
- "respiratory system morphology phenotype",
- "increased level of chemical entity",
- "Abnormality of fluid regulation",
- "amide",
- "Abnormality of urine bicarbonate level",
- "phosphorus oxoacid derivative",
- "regulation of biological quality",
- "urine",
- "biological regulation phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "ammonium betaine",
- "sodium atom",
- "alkali metal atom",
- "phosphate level phenotype",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "Abnormality of urinary uric acid level",
- "Bicarbonaturia",
- "decreased level of chemical entity",
- "Abnormal bone structure",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "organic aromatic compound",
- "elemental molecular entity",
- "blood uric acid level phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "Organic aciduria",
- "membrane-bounded organelle",
- "blood phosphate level phenotype",
- "blood phenotype",
- "multicellular organismal process",
- "organelle",
- "skeletal system phenotype",
- ],
- "has_phenotype_count": 29,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0060779",
- "category": "biolink:Disease",
- "name": "acquired Fanconi syndrome",
- "full_name": None,
- "deprecated": None,
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- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": ["acquired Fanconi syndrome"],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "full_name": None,
- "deprecated": None,
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- "DOID:1062",
- "GARD:9120",
- "MEDGEN:4653",
- "MESH:D005198",
- "NANDO:2100027",
- "NANDO:2200187",
- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624",
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0009217",
- "category": "biolink:Disease",
- "name": "Fanconi-like syndrome",
- "full_name": None,
- "deprecated": None,
- "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
- "xref": [
- "DOID:0090066",
- "MEDGEN:56237",
- "MESH:C536855",
- "OMIM:227850",
- "SCTID:236469003",
- "UMLS:C0151638",
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": ["Fanconi-like syndrome"],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": ["HP:0002754", "HP:0001876", "HP:0005939", "HP:0002783", "HP:0007606"],
- "has_phenotype_label": [
- "Osteomyelitis",
- "Pancytopenia",
- "Multiple bilateral pneumothoraces",
- "Recurrent lower respiratory tract infections",
- "Multiple cutaneous malignancies",
- ],
- "has_phenotype_closure": [
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- "HP:0002664",
- "UPHENO:0003811",
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- "HP:0032101",
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- "UBERON:0001434",
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- "UBERON:0001062",
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- "OBI:0100026",
- "GO:0050896",
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- "eukaryotic cell",
- "hematopoietic system",
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- ],
- "has_phenotype_count": 5,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:1011504",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, horse",
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- "symbol": None,
- "synonym": None,
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- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0060778",
- "category": "biolink:Disease",
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- "provided_by": "phenio_nodes",
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- "in_taxon_label": None,
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- "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
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- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:1011502",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, cattle",
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- "deprecated": None,
- "description": "Fanconi syndrome that occurs in cattle.",
- "xref": ["OMIA:000366-9913"],
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- "symbol": None,
- "synonym": None,
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
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- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0013247",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 2",
- "full_name": None,
- "deprecated": None,
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.",
- "xref": ["DOID:0080758", "GARD:15655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FRTS2",
- "Fanconi renotubular syndrome 2",
- "Fanconi renotubular syndrome type 2",
- "Fanconi syndrome caused by mutation in SLC34A1",
- "SLC34A1 Fanconi syndrome",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
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- "HP:0000114",
- "HP:0002757",
- "HP:0002749",
- "HP:0000117",
- "HP:0002748",
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- "has_phenotype_closure_label": [
- "Renal insufficiency",
- "Hypercalciuria",
- "increased level of calcium atom in urine",
- "s-block element atom",
- "urine calcium atom level phenotype",
- "calcium atom",
- "atom",
- "calcium atom level phenotype",
- "Abnormality of urine calcium concentration",
- "Abnormal glomerular filtration rate",
- "Decreased glomerular filtration rate",
- "Bone pain",
- "Pain",
- "Constitutional symptom",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "growth phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "decreased size of the multicellular organism",
- "blood protein polypeptide chain level phenotype",
- "blood organic amino compound level phenotype",
- "non-connected functional system",
- "increased level of chemical entity in blood serum",
- "protein level phenotype",
- "Abnormal circulating hormone concentration",
- "Hyperproteinemia",
- "Abnormal circulating organic compound concentration",
- "increased level of parathyroid hormone in blood",
- "Abnormal circulating protein concentration",
- "role blood serum level phenotype",
- "Abnormal circulating organic amino compound concentration",
- "increased blood serum role level",
- "Abnormal circulating nitrogen compound concentration",
- "blood serum chemical entity level phenotype",
- "increased blood serum base level",
- "endocrine system",
- "blood serum",
- "glandular system",
- "protein-containing molecular entity",
- "Acute phase response",
- "amino acid chain",
- "disconnected anatomical group",
- "blood plasma chemical entity level phenotype",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormality of the endocrine system",
- "Abnormal urinary organic compound level",
- "increased level of monosaccharide in urine",
- "alkaline earth metal atom",
- "carbohydrates and carbohydrate derivatives",
- "biomacromolecule",
- "macromolecule",
- "polypeptide",
- "protein polypeptide chain",
- "metabolic process phenotype",
- "small molecule metabolic process phenotype",
- "small molecule metabolic process",
- "hormone blood level phenotype",
- "size of multicellular organism phenotype",
- "increased level of chemical entity in blood plasma",
- "steroid metabolic process",
- "fat-soluble vitamin metabolic process",
- "increased bodily fluid role level",
- "D3 vitamins",
- "increased level of lipid in blood",
- "organic hydroxy compound metabolic process phenotype",
- "organic polycyclic compound",
- "polyol",
- "hydroxy steroid",
- "increased level of chemical entity in bodily fluid",
- "increased blood role level",
- "primary amide",
- "vitamin D level phenotype",
- "increased level of chemical entity in blood",
- "lipid metabolic process",
- "vitamin D metabolic process",
- "increased level of lipid",
- "glucose",
- "seco-steroid",
- "vitamin D",
- "hydroxycalciol",
- "vitamin D metabolic process phenotype",
- "hydroxy seco-steroid",
- "cyclic compound",
- "increased level of nitrogen molecular entity in blood",
- "Abnormal metabolism",
- "increased level of vitamin D",
- "blood organic molecular entity level phenotype",
- "polycyclic compound",
- "increased level of chemical entity",
- "Aciduria",
- "increased level of parathyroid hormone in blood serum",
- "Abnormal urine pH",
- "role urine level phenotype",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "organ phenotype",
- "renal system",
- "renal system physiology phenotype",
- "renal system phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "excretory tube",
- "multicellular anatomical structure physiology phenotype",
- "blood plasma",
- "genitourinary system phenotype",
- "tube phenotype",
- "organic hydroxy compound metabolic process",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "mesoderm-derived structure phenotype",
- "Abnormality of vitamin metabolism",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "kidney phenotype",
- "kidney",
- "amino acid",
- "blood lipid level phenotype",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "primary metabolic process phenotype",
- "trunk phenotype",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "tissue",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "decreased functionality of the kidney epithelium",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "decreased level of phosphate in blood",
- "Abnormality of vitamin D metabolism",
- "metabolic process",
- "excretory tube physiology phenotype",
- "Abnormal circulating calcium-phosphate regulating hormone concentration",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "nephron phenotype",
- "organic hydroxy compound",
- "nitrogen molecular entity",
- "Abnormal urine amino acid level",
- "vitamin metabolic process phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "occurrent",
- "nephron tubule",
- "organism substance",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "phosphate",
- "blood parathyroid hormone level phenotype",
- "abdominal segment element phenotype",
- "molecular entity",
- "multicellular organism",
- "process",
- "epithelium",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "Recurrent fractures",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "increased level of protein",
- "Abnormality of the genitourinary system",
- "Generalized aminoaciduria",
- "compound organ physiology phenotype",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "organic oxo compound",
- "decreased level of chemical entity",
- "main group molecular entity",
- "abdomen element",
- "material entity",
- "subdivision of organism along main body axis",
- "homeostatic process",
- "Abnormal bone ossification",
- "primary metabolic process",
- "anatomical structure",
- "organ physiology phenotype",
- "elemental molecular entity",
- "carbon oxoacid",
- "Abnormality of blood and blood-forming tissues",
- "organism substance phenotype",
- "endocrine system phenotype",
- "information biomacromolecule",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organ part",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "multicellular organism chemical entity level phenotype",
- "increased level of calcitriol in blood",
- "cavitated compound organ physiology phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "growth",
- "lateral structure physiology phenotype",
- "decreased level of chemical entity in blood",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "haemolymphatic fluid phenotype",
- "peptide",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "lipid metabolic process phenotype",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "blood oxygen molecular entity level phenotype",
- "decreased functionality of the epithelial tube",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "increased level of protein in blood",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "vitamin metabolic process",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "specifically dependent continuant",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "biological_process",
- "anatomical system",
- "quality",
- "Osteomalacia",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "steroid metabolic process phenotype",
- "material anatomical entity",
- "bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "Elevated circulating parathyroid hormone level",
- "Abnormal circulating metabolite concentration",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "parathyroid hormone",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "triol",
- "trunk region element physiology phenotype",
- "lipid",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "musculoskeletal system physiology phenotype",
- "anatomical entity physiology phenotype",
- "Proximal tubulopathy",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "main body axis",
- "musculature",
- "steroid",
- "organonitrogen compound",
- "metal atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "calcitriol",
- "urine chemical entity level phenotype",
- "carbonyl compound",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "organic cyclic compound",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "role bodily fluid level phenotype",
- "decreased functionality of the nephron epithelium",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "hydrogen molecular entity",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "trunk region element",
- "increased level of carboxylic acid in urine",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "abdominal segment of trunk",
- "excreta",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "increased level of amino acid in urine",
- "musculature of body phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal musculoskeletal physiology",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "carbohydrate",
- "skeletal system",
- "bone element phenotype",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "increased bodily fluid base level",
- "skeletal system morphology phenotype",
- "Abnormal skeletal morphology",
- "blood phenotype",
- "multicellular organismal process",
- "oxoacid",
- "ossification",
- "Renal phosphate wasting",
- "urine",
- "Abnormal urine phosphate concentration",
- "continuant",
- "Osteopenia",
- "organic molecular entity",
- "organic amino compound",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "hydroxides",
- "anatomical system phenotype",
- "organooxygen compound",
- "carboxylic acid",
- "increased level of organic acid in urine",
- "Abnormal blood ion concentration",
- "nitrogen molecular entity level phenotype",
- "Elevated urinary carboxylic acid",
- "amino acid level phenotype",
- "heteroorganic entity",
- "organic acid",
- "High serum calcitriol",
- "urine amino acid level phenotype",
- "polyatomic entity",
- "oxygen molecular entity",
- "Abnormal urine metabolite level",
- ],
- "has_phenotype_count": 17,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0014275",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 3",
- "full_name": None,
- "deprecated": None,
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
- "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "EHHADH Fanconi syndrome",
- "FRTS3",
- "Fanconi renotubular syndrome 3",
- "Fanconi renotubular syndrome type 3",
- "Fanconi syndrome caused by mutation in EHHADH",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
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- "HP:0003259",
- "HP:0001942",
- "HP:0001510",
- "HP:0003109",
- "HP:0002748",
- "HP:0002979",
- "HP:0003076",
- "HP:0000083",
- "HP:0004322",
- "HP:0003355",
- "HP:0003126",
- ],
- "has_phenotype_label": [
- "Elevated circulating creatinine concentration",
- "Metabolic acidosis",
- "Growth delay",
- "Hyperphosphaturia",
- "Rickets",
- "Bowing of the legs",
- "Glycosuria",
- "Renal insufficiency",
- "Short stature",
- "Aminoaciduria",
- "Low-molecular-weight proteinuria",
- ],
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- ],
- "has_phenotype_closure_label": [
- "macromolecule",
- "Proteinuria",
- "polypeptide",
- "protein polypeptide chain",
- "Aciduria",
- "Abnormal urine pH",
- "Organic aciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "decreased size of the multicellular organism",
- "trunk phenotype",
- "Abnormality of the kidney",
- "organ physiology phenotype",
- "trunk region element",
- "subdivision of trunk phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element phenotype",
- "main body axis",
- "subdivision of organism along main body axis",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "Abnormality of the upper urinary tract",
- "cavitated compound organ",
- "abdominal segment element",
- "abdomen",
- "cavitated compound organ physiology phenotype",
- "compound organ physiology phenotype",
- "glucose",
- "role urine level phenotype",
- "hexose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "material anatomical entity, curved phenotype",
- "anatomical collection phenotype",
- "lateral structure phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "shape long bone",
- "limb skeleton subdivision phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "skeleton phenotype",
- "bone of appendage girdle complex phenotype",
- "lateral structure",
- "multi-limb segment region phenotype",
- "Abnormal limb bone morphology",
- "pelvic appendage phenotype",
- "posterior region of body",
- "organism subdivision phenotype",
- "long bone phenotype",
- "limb morphology phenotype",
- "shape anatomical entity",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "growth phenotype",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "Growth delay",
- "renal system phenotype",
- "renal system physiology phenotype",
- "creatinine",
- "urine chemical entity level phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "increased level of chemical entity in blood serum",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "increased level of creatinine in blood serum",
- "Abnormal circulating organic compound concentration",
- "role blood serum level phenotype",
- "Abnormality of blood and blood-forming tissues",
- "abdominal segment of trunk",
- "excreta",
- "anatomical entity mass density phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "imidazolidinone",
- "imidazolidines",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "increased urine role level",
- "Abnormal urinary electrolyte concentration",
- "independent continuant",
- "increased level of creatinine in blood",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "phenotypic effect",
- "system",
- "Abnormality of the genitourinary system",
- "quality",
- "heteromonocyclic compound",
- "Abnormal circulating nitrogen compound concentration",
- "phosphorus oxoacid derivative",
- "amide",
- "increased level of chemical entity in blood",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "blood chemical entity level phenotype",
- "bodily fluid",
- "All",
- "heteroatomic molecular entity",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "Renal insufficiency",
- "organ, curved phenotype",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "musculature",
- "limb endochondral element phenotype",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "blood creatinine level phenotype",
- "role bodily fluid level phenotype",
- "heteroorganic entity",
- "increased level of nitrogen molecular entity in blood",
- "subdivision of organism along appendicular axis",
- "lower limb segment, curved phenotype",
- "lateral structure physiology phenotype",
- "growth",
- "Abnormal circulating metabolite concentration",
- "limb",
- "genitourinary system",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "chemical entity",
- "subdivision of trunk",
- "organochalcogen compound",
- "increased blood role level",
- "multicellular organism",
- "nitrogen molecular entity",
- "endochondral element phenotype",
- "process",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "organic molecule",
- "increased blood serum role level",
- "Abnormality of limbs",
- "increased bodily fluid role level",
- "carbohydrates and carbohydrate derivatives",
- "limb bone",
- "organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "anatomical structure, curved phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "blood plasma chemical entity level phenotype",
- "compound organ",
- "carboxamide",
- "multi-limb segment region",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "haemolymphatic fluid phenotype",
- "size of multicellular organism phenotype",
- "limb bone morphology phenotype",
- "increased level of chemical entity in blood plasma",
- "organ system subdivision",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "paired limb/fin skeleton phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin segment",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "heterocyclic compound",
- "anatomical system",
- "zone of organ",
- "organic molecular entity",
- "body proper",
- "entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormality of the calf",
- "organism substance",
- "blood plasma",
- "genitourinary system phenotype",
- "Abnormality of bone mineral density",
- "lower limb segment",
- "peptide",
- "Acidosis",
- "hindlimb zeugopod phenotype",
- "phenotype",
- "leg",
- "cyclic amide",
- "Elevated circulating creatinine concentration",
- "subdivision of organism along appendicular axis, curved phenotype",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "monocyclic compound",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "blood organic molecular entity level phenotype",
- "lactam",
- "metabolic process",
- "hindlimb",
- "hemolymphoid system",
- "role blood level phenotype",
- "cyclic compound",
- "delayed biological_process",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system",
- "limb segment",
- "taxon specific phenotype",
- "Low-molecular-weight proteinuria",
- "organonitrogen heterocyclic compound",
- "primary amide",
- "blood oxygen molecular entity level phenotype",
- "Metabolic acidosis",
- "occurrent",
- "limb segment, curved phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Abnormality of urine homeostasis",
- "oxoacid derivative",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "homeostatic process phenotype",
- "organism subdivision",
- "kidney phenotype",
- "leg phenotype",
- "increased level of chemical entity",
- "biological_process",
- "trunk",
- "molecule",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "multicellular organism chemical entity level phenotype",
- "pelvic complex",
- "excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "decreased size of the multicellular anatomical structure",
- "hindlimb zeugopod",
- "anatomical entity phenotype",
- "phosphate",
- "urine",
- "renal system",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "appendage phenotype",
- "Abnormal urine phosphate concentration",
- "phosphoric acid derivative",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "anatomical entity physiology phenotype",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "appendage",
- "Abnormal circulating creatinine concentration",
- "urine phosphate level phenotype",
- "Abnormality of the urinary system physiology",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "multicellular anatomical structure",
- "Azotemia",
- "blood",
- "Hyperphosphaturia",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure physiology phenotype",
- "limb endochondral element",
- "Abnormality of the skeletal system",
- "diazolidine",
- "blood serum chemical entity level phenotype",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "organic heterocyclic compound",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "organ",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "organic heteromonocyclic compound",
- "musculature of body",
- "blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "skeletal system phenotype",
- "bone element mass density phenotype",
- "skeleton",
- "organ phenotype",
- "ossification",
- "zeugopod phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organic cyclic compound",
- "organism subdivision, curved phenotype",
- "endochondral bone phenotype",
- "organ part",
- "chalcogen molecular entity",
- "zone of bone organ",
- "bodily fluid phenotype",
- "pelvic appendage",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "skeletal element, curved phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "anatomical collection",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "blood serum",
- "endochondral element",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "paired limb/fin phenotype",
- "curved hindlimb zeugopod",
- "long bone",
- "limb segment phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
- ],
- "has_phenotype_count": 11,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0024525",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
- "full_name": None,
- "deprecated": None,
- "description": None,
- "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001942",
- "HP:0002148",
- "HP:0000124",
- "HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
- "HP:0002748",
- "HP:0034359",
- "HP:0003076",
- "HP:0003155",
- "HP:0000083",
- "HP:0003355",
- "HP:0004322",
- "HP:0003126",
- "HP:0001324",
- ],
- "has_phenotype_label": [
- "Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
- "Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
- "Impaired renal tubular reabsorption of phosphate",
- "Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
- "Renal insufficiency",
- "Aminoaciduria",
- "Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness",
- ],
- "has_phenotype_closure": [
- "UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
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- "CHEBI:15841",
- "CHEBI:16670",
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- ],
- "has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
- "skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
- "ossification",
- "carbohydrate",
- "skeletal system",
- ],
- "has_phenotype_count": 16,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0100238",
- "category": "biolink:Disease",
- "name": "inherited Fanconi renotubular syndrome",
- "full_name": None,
- "deprecated": None,
- "description": "An instance of Fanconi renotubular syndrome that is inherited.",
- "xref": ["OMIMPS:134600"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": ["hereditary Fanconi renotubular syndrome"],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0030056",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 5",
- "full_name": None,
- "deprecated": None,
- "description": None,
- "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FANCONI RENOTUBULAR SYNDROME 5",
- "FRTS5",
- "Fanconi Renotubular Syndrome, Acadian Variant",
- "Fanconi renotubular syndrome 5",
- ],
- "uri": None,
- "iri": None,
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- "HP:0003355",
- "HP:0005576",
- "HP:0003774",
- "HP:0000822",
- ],
- "has_phenotype_label": [
- "Hypophosphatemia",
- "Pulmonary fibrosis",
- "Hypophosphatemic rickets",
- "Genu valgum",
- "Hyperchloremic metabolic acidosis",
- "Decreased DLCO",
- "Proteinuria",
- "Glycosuria",
- "Emphysema",
- "Lung adenocarcinoma",
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- "Stage 5 chronic kidney disease",
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- ],
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- "has_phenotype_closure_label": [
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- "vessel",
- "vascular system",
- "Increased blood pressure",
- "disconnected anatomical group",
- "organ physiology phenotype",
- "Stage 5 chronic kidney disease",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Chronic kidney disease",
- "cavitated compound organ physiology phenotype",
- "Tubulointerstitial fibrosis",
- "renal system morphology phenotype",
- "epithelial tube phenotype",
- "Abnormal renal insterstitial morphology",
- "Abnormal tubulointerstitial morphology",
- "renal tubule",
- "kidney morphology phenotype",
- "nephron morphology phenotype",
- "epithelium",
- "Renal fibrosis",
- "abdomen element phenotype",
- "cavitated compound organ phenotype",
- "Abnormal renal morphology",
- "Abnormal nephron morphology",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "Abnormal cardiovascular system physiology",
- "excretory tube",
- "cavitated compound organ",
- "abdominal segment element",
- "uriniferous tubule",
- "abdomen",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "tissue",
- "Aciduria",
- "Abnormal urine pH",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "organic molecule",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Non-small cell lung carcinoma",
- "Neoplasm",
- "process of degenerative change",
- "cell and tissue damage process",
- "tissue specific degenerative process",
- "pathological phenotype observation",
- "glucose",
- "hexose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "abdominal segment of trunk",
- "excreta",
- "role urine level phenotype",
- "genitourinary system",
- "blood vessel",
- "macromolecule",
- "Abnormality of the urinary system physiology",
- "heteroorganic entity",
- "organonitrogen compound",
- "renal system",
- "urine",
- "circulatory system phenotype",
- "renal system physiology phenotype",
- "renal system phenotype",
- "primary amide",
- "polypeptide",
- "genitourinary system phenotype",
- "Abnormality of urine homeostasis",
- "increased urine role level",
- "organic molecular entity",
- "anatomical cluster phenotype",
- "nitrogen molecular entity",
- "protein polypeptide chain",
- "Abnormal DLCO",
- "Decreased DLCO",
- "tissue phenotype",
- "Abnormality on pulmonary function testing",
- "Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Hyperchloremic metabolic acidosis",
- "Abnormality of the genitourinary system",
- "system",
- "material anatomical entity, curved phenotype",
- "skeletal joint morphology phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "articular system",
- "appendicular skeleton phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "bone of appendage girdle complex phenotype",
- "cardiovascular system",
- "limb bone morphology phenotype",
- "multi organ part structure phenotype",
- "skeletal joint phenotype",
- "Abnormal limb bone morphology",
- "nephron epithelium phenotype",
- "pelvic appendage phenotype",
- "appendage",
- "Abnormal renal tubule morphology",
- "posterior region of body",
- "long bone phenotype",
- "renal tubule phenotype",
- "organ",
- "knee",
- "increased level of chemical entity",
- "respiratory system morphology phenotype",
- "ion",
- "organochalcogen compound",
- "subdivision of trunk",
- "Abnormal systemic blood pressure",
- "main body axis",
- "musculature",
- "organism subdivision phenotype",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "anatomical entity physiology phenotype",
- "tube",
- "proximo-distal subdivision of respiratory tract",
- "thoracic cavity element",
- "Abnormal pulmonary interstitial morphology",
- "limb endochondral element phenotype",
- "limb skeleton subdivision phenotype",
- "lower respiratory tract",
- "pnictogen molecular entity",
- "Abnormality of lower limb joint",
- "anatomical entity morphology in the respiratory system phenotype",
- "subdivision of organism along main body axis",
- "main group molecular entity",
- "abdomen element",
- "material entity",
- "Abnormality of the kidney",
- "hindlimb joint phenotype",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "skeleton",
- "organ phenotype",
- "abdominal segment element phenotype",
- "lung phenotype",
- "pair of lungs",
- "anatomical collection",
- "viscus phenotype",
- "thoracic cavity element phenotype",
- "haemolymphatic fluid phenotype",
- "respiration organ",
- "phosphoric acid derivative",
- "subdivision of tube",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "anatomical conduit",
- "oxoacid derivative",
- "kidney phenotype",
- "leg phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "multi-limb segment region phenotype",
- "decreased level of phosphate in blood",
- "metabolic process",
- "hindlimb",
- "skeletal system phenotype",
- "monoatomic entity",
- "blood chemical entity level phenotype",
- "anatomical collection phenotype",
- "occurrent",
- "limb segment, curved phenotype",
- "nephron tubule",
- "organism substance",
- "appendage phenotype",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "limb morphology phenotype",
- "lung morphology phenotype",
- "phosphate",
- "molecular entity",
- "lateral structure",
- "bone element mass density phenotype",
- "multicellular organism",
- "process",
- "subdivision of organism along main body axis phenotype",
- "vasculature",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "Hypophosphatemia",
- "organooxygen compound",
- "subdivision of organism along appendicular axis, curved phenotype",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "cardiovascular system phenotype",
- "respiratory system phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "respiration organ phenotype",
- "decreased level of chemical entity",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "nephron epithelium",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "organism subdivision",
- "homeostatic process phenotype",
- "limb endochondral element",
- "elemental molecular entity",
- "Abnormality of blood and blood-forming tissues",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "lower limb segment",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "endochondral bone phenotype",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "skeleton phenotype",
- "lung fibrosis",
- "continuant",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "Emphysema",
- "thoracic segment organ",
- "viscus",
- "organ system subdivision",
- "shape long bone",
- "decreased level of chemical entity in blood",
- "phosphate level phenotype",
- "monoatomic ion",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "cardiovascular system physiology phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "anatomical cluster",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "haemolymphatic fluid",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "thoracic segment of trunk",
- "shape anatomical entity",
- "Neoplasm of the lung",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "anatomical system",
- "zone of organ",
- "quality",
- "leg",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "carbohydrates and carbohydrate derivatives",
- "subdivision of tube phenotype",
- "limb bone",
- "organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "epithelium phenotype",
- "anatomical structure, curved phenotype",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Lung adenocarcinoma",
- "pelvic appendage",
- "bodily fluid phenotype",
- "Abnormality of limbs",
- "hemolymphoid system",
- "Renal insufficiency",
- "organ, curved phenotype",
- "Abnormal circulating metabolite concentration",
- "limb",
- "independent continuant",
- "entity",
- "body proper",
- "excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "hindlimb zeugopod",
- "Abnormality of the vasculature",
- "multicellular anatomical structure",
- "blood",
- "pelvic complex",
- "endoderm-derived structure",
- "anatomical entity phenotype",
- "Neoplasm of the respiratory system",
- "urine chemical entity level phenotype",
- "Abnormal respiratory system physiology",
- "multicellular organism chemical entity level phenotype",
- "trunk region element",
- "carboxamide",
- "compound organ",
- "respiratory system physiology phenotype",
- "respiratory system",
- "respiratory airway",
- "Abnormality of the respiratory system",
- "biological_process",
- "thoracic segment organ phenotype",
- "lateral structure phenotype",
- "paired limb/fin segment",
- "anatomical conduit phenotype",
- "articulation",
- "Pulmonary fibrosis",
- "subdivision of trunk phenotype",
- "hindlimb joint",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "Abnormality of the skeletal system",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "Decreased anatomical entity mass density",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormal bone structure",
- "skeletal system morphology phenotype",
- "excretory tube phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormality of the knee",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "Hypertension",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "lateral structure physiology phenotype",
- "Hypophosphatemic rickets",
- "anatomical entity mass density phenotype",
- "musculoskeletal system",
- "limb segment",
- "Abnormal respiratory system morphology",
- "ossification",
- "zeugopod phenotype",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "nephron",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organ part phenotype",
- "organism subdivision, curved phenotype",
- "multi organ part structure",
- "chalcogen molecular entity",
- "zone of bone organ",
- "compound organ physiology phenotype",
- "nephron tubule morphology phenotype",
- "articulation phenotype",
- "skeletal joint",
- "subdivision of organism along appendicular axis",
- "nephron tubule phenotype",
- "lower limb segment, curved phenotype",
- "organic oxo compound",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "long bone",
- "limb segment phenotype",
- "limb joint",
- "pathological process",
- "skeletal element, curved phenotype",
- "knee morphology phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "vasculature phenotype",
- "urine amino acid level phenotype",
- "Abnormal knee morphology",
- "blood vasculature",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "peptide",
- "Acidosis",
- "phenotype",
- "hindlimb zeugopod phenotype",
- "Genu valgum",
- "multi-limb segment region",
- "kidney epithelium morphology phenotype",
- "endochondral element",
- "paired limb/fin phenotype",
- "circulatory system",
- "Abnormal lung morphology",
- "curved hindlimb zeugopod",
- "Abnormal joint morphology",
- "kidney epithelium",
- "emphysema",
- "Abnormality of the calf",
- "knee phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "endochondral element phenotype",
- "long bone morphology phenotype",
- "endoderm-derived structure phenotype",
- "paired limb/fin skeleton",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
- ],
- "has_phenotype_count": 14,
- "highlight": None,
- "score": None,
- },
- {
- "id": "HP:0001994",
- "category": "biolink:PhenotypicFeature",
- "name": "Renal Fanconi syndrome",
- "full_name": None,
- "deprecated": None,
- "description": None,
- "xref": None,
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"],
- "uri": None,
- "iri": None,
- "namespace": "HP",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0012186",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group I",
- "full_name": None,
- "deprecated": None,
- "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
- "xref": [
- "DOID:0111091",
- "GARD:15448",
- "MEDGEN:323016",
- "MESH:C563802",
- "NCIT:C129026",
- "OMIM:609053",
- "UMLS:C1836861",
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FANCI",
- "Fanconi Anemia, complementation Group 1",
- "Fanconi Anemia, complementation group type 1",
- "Fanconi anaemia complementation group type I",
- "Fanconi anemia complementation group I",
- "Fanconi anemia complementation group type I",
- "Fanconi anemia, complementation group I",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
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- "HP:0001875",
- "HP:0000325",
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- "has_phenotype_label": [
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- "Anemia",
- "Ventricular septal defect",
- "Short 1st metacarpal",
- "Abnormal renal morphology",
- "Small pituitary gland",
- "Horseshoe kidney",
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- "Short stature",
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- "Hearing impairment",
- "Astigmatism",
- "Decreased body weight",
- "Absent septum pellucidum",
- "Bone marrow hypocellularity",
- ],
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- "UPHENO:0080164",
- "UPHENO:0002916",
- "UPHENO:0033579",
- "UBERON:0007798",
- "UPHENO:0033580",
- "UPHENO:0003031",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "UBERON:0001691",
- "UPHENO:0063596",
- "UPHENO:0033609",
- "UPHENO:0074348",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0063645",
- "UBERON:0001352",
- "UPHENO:0008678",
- "UPHENO:0025547",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "HP:0009825",
- "UPHENO:0008604",
- "UPHENO:0026640",
- "UPHENO:0025136",
- "UPHENO:0026128",
- "UPHENO:0050435",
- "UPHENO:0026811",
- "UPHENO:0009399",
- "UPHENO:0026023",
- "UPHENO:0081451",
- "UPHENO:0076765",
- "UBERON:0034925",
- "HP:0005918",
- "UPHENO:0025955",
- "GO:0050789",
- "UBERON:0013702",
- "UPHENO:0008865",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UPHENO:0011533",
- "UPHENO:0026074",
- "UPHENO:0008686",
- "GO:0060255",
- "UBERON:0002417",
- "UPHENO:0026096",
- "UPHENO:0025546",
- "UPHENO:0009366",
- "UPHENO:0025509",
- "UPHENO:0008703",
- "UPHENO:0087501",
- "UPHENO:0002546",
- "UPHENO:0011492",
- "HP:0002011",
- "UPHENO:0025808",
- "HP:0001671",
- "UPHENO:0005029",
- "UPHENO:0025883",
- "CL:0000775",
- "UPHENO:0076805",
- "UPHENO:0026808",
- "UPHENO:0026239",
- "UPHENO:0082761",
- "UPHENO:0069272",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0084820",
- "UPHENO:0088186",
- "UPHENO:0005596",
- "UBERON:0000160",
- "UPHENO:0002764",
- "UPHENO:0076755",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UPHENO:0087334",
- "UPHENO:0026506",
- "HP:0003117",
- "UBERON:0002114",
- "UBERON:0015042",
- "UPHENO:0002988",
- "UBERON:0004111",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0076703",
- "UPHENO:0078089",
- "UPHENO:0081594",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0086173",
- "UBERON:0002285",
- "UPHENO:0002994",
- "UBERON:0012357",
- "UPHENO:0002652",
- "UBERON:0004921",
- "UPHENO:0053330",
- "UBERON:0000020",
- "GO:0030252",
- "UBERON:0001007",
- "UPHENO:0002303",
- "UPHENO:0031142",
- "UPHENO:0025587",
- "HP:0002247",
- "HP:0030962",
- "UPHENO:0002689",
- "UPHENO:0088020",
- "UPHENO:0002377",
- "UBERON:0005409",
- "UBERON:0003103",
- "UPHENO:0003952",
- "UPHENO:0074228",
- "UPHENO:0063558",
- "UPHENO:0001002",
- "UPHENO:0002239",
- "HP:0002973",
- "UPHENO:0063569",
- "HP:0002246",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "UBERON:0010230",
- "UPHENO:0069125",
- "UPHENO:0074229",
- "HP:0030048",
- "GO:0050877",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UPHENO:0063586",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0010740",
- "UPHENO:0003227",
- "UPHENO:0002945",
- "UBERON:0000025",
- "HP:0001098",
- "HP:0025461",
- "UPHENO:0046483",
- "HP:0006496",
- "UPHENO:0002751",
- "UPHENO:0046397",
- "UPHENO:0076720",
- "HP:0032251",
- "UPHENO:0081204",
- "UPHENO:0084763",
- "UPHENO:0046490",
- "UPHENO:0081313",
- "UPHENO:0046554",
- "HP:0000483",
- "UBERON:0019261",
- "UBERON:0002049",
- "UBERON:0005181",
- "UPHENO:0002544",
- "HP:0000085",
- "UPHENO:0004909",
- "UPHENO:0002880",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0002538",
- "HP:0006501",
- "CL:0000766",
- "UPHENO:0050034",
- "UPHENO:0046403",
- "HP:0012759",
- "UPHENO:0075933",
- "UPHENO:0068912",
- "UBERON:0015061",
- "GO:0010817",
- "HP:0009826",
- "HP:0025015",
- "UPHENO:0066905",
- "UPHENO:0003936",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0069328",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UPHENO:0026486",
- "UPHENO:0009209",
- "UBERON:0006058",
- "UPHENO:0074237",
- "UPHENO:0046552",
- "UPHENO:0081091",
- "UPHENO:0076718",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0026181",
- "UBERON:0005281",
- "UPHENO:0012274",
- "UPHENO:0087750",
- "UPHENO:0003095",
- "UPHENO:0003514",
- "UPHENO:0026146",
- "UPHENO:0002785",
- "HP:0000152",
- "UPHENO:0068838",
- "HP:0012145",
- "UPHENO:0046540",
- "UPHENO:0002467",
- "HP:0002817",
- "UPHENO:0003030",
- "UBERON:0004732",
- "UPHENO:0002562",
- "UPHENO:0046472",
- "UBERON:0008962",
- "UBERON:0004453",
- "UBERON:0015001",
- "HP:0100240",
- "UPHENO:0025135",
- "UPHENO:0068848",
- "UBERON:0006717",
- "UPHENO:0002593",
- "UPHENO:0002550",
- "HP:0011991",
- "UPHENO:0068898",
- "UPHENO:0002746",
- "UPHENO:0002954",
- "UBERON:0010712",
- "UBERON:0011249",
- "UPHENO:0011546",
- "UPHENO:0008707",
- "RO:0002577",
- "UBERON:0004765",
- "UPHENO:0002246",
- "UBERON:0010703",
- "HP:0010993",
- "UBERON:0002428",
- "UPHENO:0026095",
- "UPHENO:0002648",
- "UPHENO:0002719",
- "HP:0030680",
- "UPHENO:0087349",
- "UPHENO:0002870",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0005927",
- "UPHENO:0074310",
- "UBERON:0001981",
- "CL:0000000",
- "UPHENO:0002725",
- "UPHENO:0026010",
- "UBERON:0010538",
- "HP:0005773",
- "UBERON:0003221",
- "UPHENO:0002594",
- "HP:0009815",
- "UBERON:0002495",
- "HP:0005528",
- "UPHENO:0003065",
- "UPHENO:0002650",
- "UPHENO:0049894",
- "HP:0001167",
- "UBERON:0000026",
- "UPHENO:0002800",
- "UBERON:0003645",
- "HP:0005561",
- "UPHENO:0025166",
- "UBERON:0004120",
- "UBERON:0011584",
- "UPHENO:0052178",
- "HP:0003422",
- "HP:0040070",
- "UPHENO:0012312",
- "UBERON:0002405",
- "HP:0011017",
- "GO:0006810",
- "UPHENO:0046396",
- "UBERON:0004714",
- "HP:0000818",
- "HP:0006503",
- "UBERON:0003544",
- "UBERON:0013768",
- "UPHENO:0002969",
- "HP:0002715",
- "GO:0023052",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UPHENO:0009295",
- "UPHENO:0046741",
- "UPHENO:0087518",
- "UPHENO:0002211",
- "UBERON:0000060",
- "UPHENO:0002717",
- "UPHENO:0075944",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0075195",
- "UPHENO:0004523",
- "UPHENO:0046445",
- "UBERON:0006314",
- "UPHENO:0046594",
- "UBERON:0002390",
- "BFO:0000040",
- "UBERON:0000941",
- "UPHENO:0011544",
- "CL:0000255",
- "HP:0001172",
- "UPHENO:0011572",
+ "Abnormal involuntary eye movements",
+ "Abnormal tracheal morphology",
+ "cerebrospinal fluid",
+ "main body axis",
+ "tissue development",
+ "venous blood vessel",
+ "camera-type eye phenotype",
+ "physiologic nystagmus phenotype",
+ "increased size of the immaterial anatomical entity",
+ "manus",
+ "chemosensory system",
+ "organ physiology phenotype",
+ "Microphthalmia",
+ "absent anatomical entity in the multicellular organism",
+ "renal system phenotype",
+ "bone marrow cell",
+ "multicellular organism phenotype",
+ "upper limb segment",
+ "biological_process",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "camera-type eye physiology phenotype",
+ "blood vessel morphology phenotype",
+ "zone of skin morphology phenotype",
+ "ganglion",
+ "subdivision of head phenotype",
+ "Abnormality of the curvature of the cornea",
+ "cell",
+ "Abnormality of the mouth",
+ "Finger syndactyly",
+ "lower respiratory tract",
+ "visual system",
+ "uvea morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal system physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "Hypermelanotic macule",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "zone of organ phenotype",
+ "trachea",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Abnormal respiratory system morphology",
+ "Multiple cafe-au-lait spots",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal lens morphology",
+ "simple eye physiology phenotype",
+ "Anal atresia",
+ "anatomical conduit",
+ "Abnormality of the head",
+ "Abnormal enteric nervous system morphology",
+ "future central nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "fused pedal digit and pedal digit",
+ "ocular surface region morphology phenotype",
+ "decreased length of anatomical structure",
+ "cornea",
+ "abdominal wall",
+ "3-D shape anatomical entity",
+ "external male genitalia",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "orifice",
+ "shape cornea",
+ "multicellular organism development phenotype",
+ "Abnormal eye physiology",
+ "asymmetrically curved anatomical entity",
+ "Dolichocephaly",
+ "common carotid artery plus branches",
+ "drooping eyelid",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "decreased length of bone of pectoral complex",
+ "ventricle of nervous system phenotype",
+ "increased number of anatomical structure",
+ "delayed biological_process",
+ "systemic artery",
+ "organism substance",
+ "Abnormality of body height",
+ "decreased size of the mesoderm-derived structure",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "non-material anatomical boundary",
+ "Abnormality of head or neck",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "lower urinary tract phenotype",
+ "non-connected functional system",
+ "increased number of anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Clinodactyly of the 5th finger",
+ "sense organ",
+ "orbital region",
+ "hypertrophic heart right ventricle",
+ "vasculature phenotype",
+ "Abnormality of the endocrine system",
+ "forelimb",
+ "skeleton of pelvic complex",
+ "anterior segment of eyeball morphology phenotype",
+ "face phenotype",
+ "Abnormal frontal bone morphology",
+ "Abnormality of lower limb joint",
+ "curvature anatomical entity",
+ "increased number of material anatomical entity",
+ "skeletal system",
+ "hindlimb skeleton",
+ "protein-containing material entity",
+ "anatomical entity phenotype",
+ "gamete generation",
+ "organ part phenotype",
+ "male organism",
+ "fused pedal digit and anatomical entity",
+ "Irregular hyperpigmentation",
+ "lateral structure phenotype",
+ "pelvic girdle region",
+ "paired limb/fin segment",
+ "multicellular organism development",
+ "Ventriculomegaly",
+ "urethra",
+ "thoracic segment organ",
+ "Astigmatism",
+ "Abnormal carotid artery morphology",
+ "anterior region of body",
+ "Abnormal reproductive system morphology",
+ "lateral structure physiology phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "upper leg bone",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "asymmetrically curved cornea",
+ "decreased qualitatively reproductive process",
+ "dermal skeletal element phenotype",
+ "neural crest-derived structure",
+ "incomplete closing of the interatrial septum",
+ "epithelial tube formation",
+ "digestive system element phenotype",
+ "brain ventricle morphology phenotype",
+ "Abnormal umbilicus morphology",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormal joint morphology",
+ "transudate",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "multi cell part structure",
+ "vein",
+ "limb long bone morphology phenotype",
+ "bodily fluid",
+ "multi-tissue structure",
+ "facial skeleton morphology phenotype",
+ "limb long bone phenotype",
+ "All",
+ "Abnormal bone structure",
+ "naris phenotype",
+ "lens of camera-type eye morphology phenotype",
+ "nervous system phenotype",
+ "postcranial axial skeletal system",
+ "Clubbing of toes",
+ "arterial system",
+ "bone of pelvic complex morphology phenotype",
+ "kidney morphology phenotype",
+ "dorsum",
+ "nervous system development",
+ "tube formation phenotype",
+ "peripheral nervous system phenotype",
+ "tissue",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
+ "brain ventricle",
+ "future nervous system",
+ "regional part of nervous system phenotype",
+ "Reduced bone mineral density",
+ "circulatory system",
+ "Spina bifida",
+ "embryo development ending in birth or egg hatching",
+ "epithelial tube morphogenesis",
+ "morphogenesis of an epithelium",
+ "appendicular skeleton",
+ "spinal cord",
+ "Abnormal facial skeleton morphology",
+ "multi organ part structure",
+ "increased length of the anatomical line between pupils",
+ "manual digit 1 phalanx",
+ "orifice phenotype",
+ "neocortex morphology phenotype",
+ "gamete",
+ "upper jaw region",
+ "palpebral fissure phenotype",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
+ "Abnormal bone ossification",
+ "Abnormal testis morphology",
+ "deviation of anatomical entity towards the middle",
+ "Abnormal eyelid morphology",
+ "palpebral fissure",
+ "female reproductive organ",
+ "ocular adnexa",
+ "opaque lens of camera-type eye",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "lens of camera-type eye phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "transparent eye structure phenotype",
+ "Cataract",
+ "heart right ventricle",
+ "increased size of the anatomical entity",
+ "lens of camera-type eye",
+ "Atrial septal defect",
+ "drooping anatomical entity",
+ "eyelid phenotype",
+ "large intestine",
+ "Ptosis",
+ "Abnormal cornea morphology",
+ "gland",
+ "clavate digit",
+ "decreased size of the anatomical structure",
+ "shape eyelid",
+ "decreased qualitatively sensory perception",
+ "incomplete closing of the multicellular anatomical structure",
+ "Hydrocephalus",
+ "telencephalon morphology phenotype",
+ "hindlimb morphology phenotype",
+ "anatomical projection",
+ "number of hematopoietic cell phenotype",
+ "Eumetazoa",
+ "phalanx morphology phenotype",
+ "Eukaryota",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "forebrain morphology phenotype",
+ "root",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormality of the male genitalia",
+ "increased size of the organ part",
+ "cellular organisms",
+ "size of skull phenotype",
+ "increased length of the multicellular anatomical structure",
+ "Bicornuate uterus",
+ "regional part of brain phenotype",
+ "limb long bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "size of anatomical entity phenotype",
+ "female reproductive system morphology phenotype",
+ "telencephalon",
+ "cranial skeletal system",
+ "nose",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "tube closure",
+ "ocular adnexa phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autonomic nervous system phenotype",
+ "Abnormality of the abdominal organs",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "Deviation of the 5th finger",
+ "regional part of brain",
+ "regional part of nervous system",
+ "interventricular septum",
+ "increased length of the anatomical line",
+ "ganglion of peripheral nervous system morphology phenotype",
+ "Abnormal midface morphology",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
+ "oral cavity",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "testis",
+ "left cardiac chamber",
+ "Aplasia/Hypoplasia of the testes",
+ "Abnormality of the testis size",
+ "gonad",
+ "palatine uvula morphology phenotype",
+ "Decreased anatomical entity mass density",
+ "embryo",
+ "Absent testis",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "decreased length of forelimb bone",
+ "long bone phenotype",
+ "Abnormality of the outer ear",
+ "number of myeloid cell phenotype",
+ "absent germ cell",
+ "ear morphology phenotype",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "vestibulo-auditory system",
+ "anterior uvea",
+ "Abnormality of blood and blood-forming tissues",
+ "external ear phenotype",
+ "Abnormal cerebral cortex morphology",
+ "forebrain",
+ "increased qualitatively biological_process",
+ "increased size of the non-material anatomical boundary",
+ "incomplete closing of the organ",
+ "Abnormal pinna morphology",
+ "Abnormal ear morphology",
+ "ear",
+ "artery morphology phenotype",
+ "developmental process involved in reproduction phenotype",
+ "male reproductive organ physiology phenotype",
+ "internal male genitalia",
+ "anatomical entity morphology in the brain phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "multi organ part structure phenotype",
+ "increased size of the ventricle of nervous system",
+ "epicanthal fold",
+ "hindlimb long bone",
+ "decreased length of multicellular anatomical structure",
+ "abdomen element phenotype",
+ "increased size of the organ component layer",
+ "Abnormal nasal morphology",
+ "internal male genitalia physiology phenotype",
+ "duodenum morphology phenotype",
+ "Abnormality of the nervous system",
+ "pedal digit digitopodial skeleton",
+ "paralysed cranial nerve",
+ "increased size of the ectoderm-derived structure",
+ "abdomen element physiology phenotype",
+ "increased length of the zone of organ",
+ "absent anatomical structure",
+ "trunk",
+ "manual digit 5 plus metapodial segment",
+ "female reproductive system phenotype",
+ "zone of organ",
+ "skull phenotype",
+ "increased size of the brain ventricle",
+ "increased size of the multicellular anatomical structure",
+ "visual perception phenotype",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "digestive system morphology phenotype",
+ "exocrine gland phenotype",
+ "Decreased fertility",
+ "Abnormality of the genitourinary system",
+ "exocrine system",
+ "decreased length of forelimb endochondral element",
+ "intromittent organ",
+ "respiratory system morphology phenotype",
+ "gland phenotype",
+ "Abnormality of the liver",
+ "fused anatomical entity and manual digit",
+ "incomplete closing of the roof of mouth",
+ "liver",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Visual impairment",
+ "ulna",
+ "deviation of manual digit towards the middle",
+ "abdomen",
+ "trunk region element phenotype",
+ "Conotruncal defect",
+ "digestive system gland",
+ "musculoskeletal system",
+ "abdominal segment element",
+ "gonad phenotype",
+ "internal ear phenotype",
+ "liver phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "gamete generation phenotype",
+ "subdivision of skeletal system",
+ "hepatobiliary system",
+ "male germ cell",
+ "Aplasia/Hypoplasia of the uvula",
+ "behavior process",
+ "cardiovascular system morphology phenotype",
+ "anterior chamber of eyeball",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "increased size of the right cardiac chamber",
+ "hypothalamus-pituitary axis phenotype",
+ "posterior nasal aperture phenotype",
+ "hypothalamus-pituitary axis",
+ "Abnormal reflex",
+ "hindlimb joint",
+ "anatomical line phenotype",
+ "penis",
+ "increased size of the anatomical line",
+ "tube phenotype",
+ "Hypertelorism",
+ "increased length of the anatomical entity",
+ "anatomical line",
+ "immaterial anatomical entity phenotype",
+ "non-material anatomical boundary phenotype",
+ "increased length of the immaterial anatomical entity",
+ "Decreased multicellular organism mass",
+ "Aplasia/Hypoplasia of the ulna",
+ "intestine",
+ "ectoderm-derived structure phenotype",
+ "immaterial anatomical entity",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "location of eyeball of camera-type eye phenotype",
+ "decreased size of the sense organ",
+ "vessel",
+ "spermatogenesis phenotype",
+ "anatomical entity atresia",
+ "Abnormal spermatogenesis",
+ "absent material anatomical entity in the multicellular organism",
+ "morphogenesis of embryonic epithelium",
+ "haploid cell",
+ "germ line cell",
+ "Cafe-au-lait spot",
+ "gamete phenotype",
+ "absent material anatomical entity",
+ "spermatogenesis",
+ "internal naris",
+ "sperm",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "decreased qualitatively developmental process",
+ "reproductive process phenotype",
+ "male gamete",
+ "prepuce of penis morphology phenotype",
+ "absent gamete",
+ "decreased sensory perception of mechanical stimulus",
+ "iris",
+ "integumental system",
+ "semen",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "decreased gamete generation",
+ "absent anatomical entity in the semen",
+ "subdivision of skeleton phenotype",
+ "male reproductive system physiology phenotype",
+ "conceptus",
+ "decreased multicellular organismal reproductive process",
+ "Abnormal cellular phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "absent anatomical entity",
+ "internal genitalia",
+ "skeleton of pes",
+ "pes morphology phenotype",
+ "organ part morphology in the heart phenotype",
+ "reproduction",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
+ "epithelium",
+ "autopodial skeleton",
+ "outflow tract of ventricle",
+ "increased size of the brain ventricle/choroid plexus",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "Abnormality of the palpebral fissures",
+ "obsolete multicellular organism reproduction",
+ "decreased developmental process",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "multicellular organismal reproductive process phenotype",
+ "Abnormality of the nose",
+ "developmental process involved in reproduction",
+ "sexual reproduction",
+ "male gamete generation",
+ "fused anatomical entity and digit",
+ "hematopoietic system phenotype",
+ "small intestine morphology phenotype",
+ "small intestine",
+ "cavitated compound organ",
+ "Abnormal duodenum morphology",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "Abnormal foot morphology",
+ "Duodenal stenosis",
+ "testis phenotype",
+ "Abnormality of movement",
+ "intestine morphology phenotype",
+ "subdivision of tube phenotype",
+ "increased length of the skin of head",
+ "Azoospermia",
+ "Abnormal small intestine morphology",
+ "clavate anatomical entity",
+ "Hydroureter",
+ "membrane bone phenotype",
+ "Abnormal uterus morphology",
+ "myocardium phenotype",
+ "Abnormal oral morphology",
+ "Choanal atresia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "continuant",
+ "hindlimb",
+ "Functional abnormality of the inner ear",
+ "pedal digit",
+ "leg",
+ "neoplasm phenotype",
+ "phalanx of pes",
+ "cardiac valve morphology phenotype",
+ "orifice atresia",
+ "digitopodium bone",
+ "phalanx",
+ "Abnormality of the lower limb",
+ "jaw skeleton",
+ "exocrine gland",
+ "hindlimb bone",
+ "phalanx endochondral element",
+ "skeleton of pedal digitopodium",
+ "skeleton of pedal acropodium",
+ "vertebral centrum element",
+ "pelvic appendage skeleton",
+ "pes",
+ "segment of pes",
+ "voluntary movement behavior",
+ "Renal hypoplasia/aplasia",
+ "localised reproductive structure",
+ "digitopodium region",
+ "fused manual digit and manual digit",
+ "pedal digitopodium region",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "lower limb segment",
+ "increased length of the anatomical structure",
+ "pedal digitopodium bone",
+ "prepuce of penis",
+ "concave 3-D shape anatomical entity",
+ "digit morphology phenotype",
+ "pelvic complex",
+ "duodenum",
+ "formed organ subunit",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "joint of girdle morphology phenotype",
+ "Proptosis",
+ "hindlimb stylopod",
+ "lower limb segment phenotype",
+ "pelvic girdle skeleton",
+ "pedal digit morphology phenotype",
+ "posterior region of body",
+ "Abnormal lower limb bone morphology",
+ "incomplete closing of the arch of centrum of vertebra",
+ "renal/urinary system phenotype",
+ "Abnormality of the upper urinary tract",
+ "radius endochondral element",
+ "skin of face morphology phenotype",
+ "Abnormal renal morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal cardiovascular system morphology",
+ "Abnormal ocular adnexa morphology",
+ "cavitated compound organ phenotype",
+ "Abnormal localization of kidney",
+ "Ocular anterior segment dysgenesis",
+ "Abnormal anus morphology",
+ "compound organ phenotype",
+ "decreased functionality of the reproductive organ",
+ "Abnormality of the female genitalia",
+ "cardiac ventricle morphology phenotype",
+ "renal system morphology phenotype",
+ "male reproductive system morphology phenotype",
+ "orbital region phenotype",
+ "Abnormality of the kidney",
+ "neural tube closure phenotype",
+ "kidney",
+ "mouth",
+ "Aplasia/Hypoplasia of the iris",
+ "midface morphology phenotype",
+ "oral cavity morphology phenotype",
+ "morphological feature phenotype",
+ "myocardium morphology phenotype",
+ "incomplete closing of the anatomical structure",
+ "Abnormal oral cavity morphology",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal aortic valve morphology",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "soft palate",
+ "soft palate morphology phenotype",
+ "Abnormal soft palate morphology",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "malformed anatomical entity",
+ "subdivision of organism along main body axis",
+ "formed anterior chamber of eyeball",
+ "Abnormal hip joint morphology",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "fused digit and digit",
+ "decreased length of organ",
+ "formed multicellular anatomical structure",
+ "iris phenotype",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "formed anatomical structure",
+ "formed material anatomical entity",
+ "decreased length of mesoderm-derived structure",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "palatine uvula phenotype",
+ "Joint dislocation",
+ "Abnormal uvea morphology",
+ "Abnormality iris morphology",
+ "circulatory organ",
+ "uvea",
+ "anatomical collection",
+ "Macule",
+ "increased biological_process in skin of body",
+ "posterior nasal aperture atresia",
+ "cerebral hemisphere morphology phenotype",
+ "Hypospadias",
+ "fused manual digit and anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "musculature",
+ "Localized skin lesion",
+ "Abnormal 5th finger morphology",
+ "Abnormal thumb morphology",
+ "aplasia or hypoplasia of ulna",
+ "Abnormal size of the palpebral fissures",
+ "autopod region phenotype",
+ "Finger clinodactyly",
+ "anatomical entity morphology in the manus phenotype",
+ "manual digit",
+ "skeleton phenotype",
+ "manus morphology phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "Abnormality of the hand",
+ "bone of hip region",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "amniotic fluid",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "neural crest-derived structure phenotype",
+ "manual digit morphology in the manus phenotype",
+ "decreased pigmentation in skin of body",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia involving the skeleton",
+ "fused digit and anatomical entity",
+ "anatomical entity mass density phenotype",
+ "pelvic girdle bone/zone",
+ "eye movement phenotype",
+ "respiratory system phenotype",
+ "Abnormality of bone mineral density",
+ "brain ventricle/choroid plexus phenotype",
+ "bone element mass density phenotype",
+ "biogenic amine secreting cell",
+ "ossification",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "deviation of anatomical entity",
+ "digit 1 or 5",
+ "cranial nerve related reflex",
+ "manual digit 5 morphology phenotype",
+ "manual digit 5",
+ "spatial pattern of anatomical entity phenotype",
+ "digit 1 or 5 phenotype",
+ "digit 5 plus metapodial segment",
+ "digestive system",
+ "decreased length of endochondral bone",
+ "Deviation of the hand or of fingers of the hand",
+ "appendicular skeletal system",
+ "deviation of manual digit 5",
+ "deviation of manual digit",
+ "decreased functionality of the organ part",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "ulna phenotype",
+ "increased height of the secondary palate",
+ "Tetralogy of Fallot",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "genitourinary system",
+ "Limb undergrowth",
+ "decreased size of the forelimb endochondral element",
+ "cardiac ventricle morphology in the heart phenotype",
+ "decreased size of the anatomical entity",
+ "Upper limb undergrowth",
+ "decreased length of material anatomical entity",
+ "decreased length of skeletal element",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the endochondral bone",
+ "Hematological neoplasm",
+ "decreased size of the organ",
+ "ulna hypoplasia",
+ "head bone phenotype",
+ "decreased size of the bone of pectoral complex",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "decreased size of the bone of free limb or fin",
+ "increased response to external stimulus",
+ "forelimb zeugopod bone hypoplasia",
+ "forelimb long bone phenotype",
+ "paired limb/fin skeleton",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "Hypoplasia of the ulna",
+ "decreased size of the bone element",
+ "Short forearm",
+ "decreased length of limb endochondral element",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased size of the bone of appendage girdle complex",
+ "increased length of the zone of skin",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Cardiomyopathy",
+ "flat bone",
+ "pelvic region element",
+ "Hyperpigmentation of the skin",
+ "limb joint",
+ "anatomical conduit atresia",
+ "joint of girdle",
+ "manus phenotype",
+ "hindlimb joint phenotype",
+ "zone of bone organ",
+ "skeletal joint",
+ "articulation phenotype",
+ "Micrognathia",
+ "anatomical entity dislocation",
+ "skeletal joint dislocation",
+ ],
+ "has_phenotype_count": 106,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:1011502",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, cattle",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Fanconi syndrome that occurs in cattle.",
+ "xref": ["OMIA:000366-9913"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": None,
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0001083",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
+ "xref": [
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624",
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
+ "adult Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0009217",
+ "category": "biolink:Disease",
+ "name": "Fanconi-like syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
+ "xref": [
+ "DOID:0090066",
+ "MEDGEN:56237",
+ "MESH:C536855",
+ "OMIM:227850",
+ "SCTID:236469003",
+ "UMLS:C0151638",
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": ["Fanconi-like syndrome"],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": ["HP:0005939", "HP:0002754", "HP:0001876", "HP:0002783", "HP:0007606"],
+ "has_phenotype_label": [
+ "Multiple bilateral pneumothoraces",
+ "Osteomyelitis",
+ "Pancytopenia",
+ "Recurrent lower respiratory tract infections",
+ "Multiple cutaneous malignancies",
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:3000003",
+ "HP:0001574",
+ "UBERON:0004121",
+ "HP:0011793",
+ "HP:0007606",
+ "UBERON:0002097",
+ "UBERON:0002199",
+ "UBERON:0002416",
+ "UPHENO:0002635",
+ "HP:0002664",
+ "HP:0032101",
+ "HP:0011947",
+ "HP:0002783",
+ "HP:0002719",
+ "UPHENO:0011498",
+ "UPHENO:0086172",
+ "UPHENO:0080010",
"CL:0000738",
- "UBERON:0011138",
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- "UBERON:0002193",
- "HP:0001871",
- "HP:0006265",
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- "UPHENO:0074245",
- "UPHENO:0063794",
- "UBERON:0007811",
- "UPHENO:0071308",
- "UPHENO:0076799",
- "UBERON:0002099",
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- "HP:0010026",
- "UPHENO:0063722",
- "UBERON:0015203",
- "UBERON:0000475",
- "UPHENO:0008743",
- "HP:0010034",
- "UPHENO:0046528",
- "UPHENO:0085356",
- "UPHENO:0011573",
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- "UPHENO:0002792",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0085371",
- "UPHENO:0049642",
- "UPHENO:0087369",
- "CL:0000988",
- "GO:0051179",
- "HP:0000470",
- "HP:0000118",
- "UBERON:0004710",
- "HP:0001881",
- "HP:0040195",
- "UPHENO:0046618",
- "UPHENO:0033596",
- "UPHENO:0068914",
- "UPHENO:0069327",
- "UPHENO:0002632",
- "UBERON:0000489",
- "UPHENO:0002603",
- "HP:0011994",
- "UBERON:0005177",
- "UPHENO:0010763",
- "HP:0000325",
- "UPHENO:0002570",
- "UPHENO:0005573",
- "HP:0000413",
- "UPHENO:0025961",
- "UPHENO:0026098",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "CL:0002242",
- "UPHENO:0002910",
- "UPHENO:0002559",
- "UPHENO:0005214",
- "UPHENO:0003799",
- "UPHENO:0003815",
- "UPHENO:0002568",
- "HP:0002948",
- "UPHENO:0080204",
- "HP:0008057",
- "UPHENO:0086797",
- "UBERON:0011216",
- "HP:0011452",
- "UBERON:0018707",
- "UPHENO:9002003",
- "UPHENO:0002643",
- "GO:0008152",
- "UBERON:0004088",
- "UPHENO:0071310",
- "HP:0011282",
- "UPHENO:0071317",
- "UPHENO:0076810",
- "UPHENO:0063565",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0046684",
+ "UBERON:0000479",
+ "UPHENO:0087123",
+ "HP:0011842",
+ "UPHENO:0063794",
+ "HP:0011873",
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+ "CL:0000232",
+ "UPHENO:0076675",
+ "HP:0005561",
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+ "HP:0001876",
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+ "UBERON:0002193",
+ "CL:0001035",
+ "CL:0000255",
+ "CL:0002242",
+ "CL:0000219",
+ "CL:0000225",
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+ "UPHENO:0085302",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "UPHENO:0076703",
+ "CL:0000457",
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+ "UPHENO:0077391",
+ "HP:0032251",
+ "HP:0012145",
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+ "HP:0025354",
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+ "HP:0011893",
+ "HP:0020047",
+ "UPHENO:0011536",
+ "HP:0001872",
+ "UPHENO:0063722",
+ "UPHENO:0011531",
+ "UPHENO:0074682",
"UBERON:0001015",
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- "UPHENO:0002736",
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+ "UBERON:0003103",
+ "UPHENO:0076692",
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- "UPHENO:0002600",
- "UPHENO:0009337",
- "HP:0001507",
- "UPHENO:0002430",
+ "UBERON:0004119",
+ "BFO:0000001",
+ "HP:0008069",
+ "UBERON:0001474",
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+ "UBERON:0000061",
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+ "UBERON:0000171",
+ "UBERON:0000481",
+ "UBERON:0000468",
+ "UPHENO:0083263",
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+ "NCBITaxon:1",
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+ "UBERON:0005906",
+ "UBERON:0015203",
+ "UBERON:0011676",
+ "UBERON:0000072",
+ "UPHENO:0002267",
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- "UPHENO:0002308",
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- "UPHENO:0081598",
- "UPHENO:0069335",
- "HP:0012130",
- "HP:0000924",
+ "GO:0006952",
+ "UPHENO:0002525",
+ "GO:0008150",
+ "HP:0002795",
+ "UBERON:0005181",
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+ "UBERON:0000077",
+ "NCBITaxon:33154",
+ "UBERON:0015212",
+ "BFO:0000040",
+ "UPHENO:0074624",
+ "UBERON:0000170",
+ "UBERON:0034925",
+ "UBERON:0000064",
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"UBERON:0000062",
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- "UPHENO:0008622",
- "UPHENO:0004831",
- "HP:0001331",
- "UPHENO:0063615",
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+ "UPHENO:0002816",
+ "HP:0011843",
+ "UBERON:0009778",
+ "UBERON:0002075",
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+ "UPHENO:0001003",
+ "UPHENO:0074681",
+ "BFO:0000004",
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+ "UPHENO:0077348",
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+ "UBERON:0001558",
+ "UPHENO:0087433",
+ "UBERON:0001004",
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+ "PATO:0000001",
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+ "UPHENO:0049584",
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+ "UPHENO:0001001",
+ "UPHENO:0002263",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "UBERON:0002390",
+ "GO:0006954",
+ ],
+ "has_phenotype_closure_label": [
+ "Multiple cutaneous malignancies",
+ "Neoplasm of the skin",
+ "integument phenotype",
+ "Neoplasm",
+ "skin of body phenotype",
+ "Neoplasm by anatomical site",
+ "Respiratory tract infection",
+ "Recurrent lower respiratory tract infections",
+ "Recurrent infections",
+ "Unusual infection",
+ "Abnormal immune system morphology",
+ "Abnormal platelet morphology",
+ "decreased number of hematopoietic cell",
+ "decreased number of cell",
+ "leukocyte",
+ "Pancytopenia",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal bone marrow cell morphology",
+ "number of platelet phenotype",
+ "number of myeloid cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormal myeloid cell morphology",
+ "secretory cell",
+ "Abnormal leukocyte count",
+ "cell phenotype",
+ "skeletal element",
+ "blood cell phenotype",
+ "cell",
+ "decreased number of anatomical structure",
+ "integumental system",
+ "immune system morphology phenotype",
+ "Abnormal skeletal morphology",
+ "number of hematopoietic cell phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "bone marrow cell",
+ "Abnormal cellular immune system morphology",
+ "erythrocyte",
+ "ectoderm-derived structure phenotype",
+ "hematopoietic system phenotype",
+ "platelet",
+ "Abnormal cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "serotonin secreting cell",
+ "hematopoietic cell",
+ "number of cell phenotype",
+ "bone marrow",
+ "decreased number of material anatomical entity",
+ "hemolymphoid system",
+ "bone cell",
+ "integument",
+ "eukaryotic cell",
+ "nucleate cell",
+ "anucleate cell",
+ "increased defense response in bone element",
+ "Abnormality of the respiratory system",
+ "oxygen accumulating cell",
+ "material anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "Abnormal respiratory system physiology",
+ "organism",
+ "Abnormality of thrombocytes",
+ "organ",
+ "anatomical system",
+ "tissue",
+ "continuant",
+ "thoracic segment of trunk",
+ "anatomical entity morphology phenotype",
+ "Abnormality of the integument",
+ "protein-containing material entity",
+ "multicellular organism",
+ "anatomical entity physiology phenotype",
+ "skin of body",
+ "skeletal system",
+ "Metazoa",
+ "trunk region element",
+ "blood cell",
+ "respiration organ",
+ "body proper",
+ "tube",
+ "Pneumothorax",
+ "increased response to stress in bone element",
+ "mesoderm-derived structure",
+ "decreased number of platelet",
+ "phenotypic effect",
+ "anatomical system physiology phenotype",
+ "neoplasm phenotype",
+ "Increased inflammatory response",
+ "decreased number of myeloid cell",
+ "thoracic cavity element",
+ "respiratory system morphology phenotype",
+ "anatomical entity",
+ "lateral structure",
+ "hematopoietic system",
+ "Abnormality of the skeletal system",
+ "cellular organisms",
+ "Opisthokonta",
+ "mixed endoderm/mesoderm-derived structure",
+ "ectoderm-derived structure",
+ "proximo-distal subdivision of respiratory tract",
+ "entity",
+ "disconnected anatomical group",
+ "Abnormal platelet count",
+ "material anatomical entity",
+ "compound organ",
+ "increased inflammatory response in bone element",
+ "organ phenotype",
+ "pleura morphology phenotype",
+ "pleural sac",
+ "increased qualitatively biological_process",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "anatomical entity phenotype",
+ "anatomical structure physiology phenotype",
+ "Eukaryota",
+ "Abnormality of the musculoskeletal system",
+ "serous membrane",
+ "multicellular organism morphology phenotype",
+ "respiratory system phenotype",
+ "material entity",
+ "multi-tissue structure",
+ "Abnormality of the immune system",
+ "phenotype",
+ "Abnormal pleura morphology",
+ "musculoskeletal system",
+ "quality",
+ "endoderm-derived structure",
+ "multicellular anatomical structure phenotype",
+ "defense response",
+ "Eumetazoa",
+ "material anatomical entity physiology phenotype",
+ "Multiple bilateral pneumothoraces",
+ "Recurrent respiratory infections",
+ "respiratory system",
+ "response to stress phenotype",
+ "subdivision of trunk",
+ "Abnormal respiratory system morphology",
+ "organ part",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "leukocyte morphology phenotype",
+ "serous sac",
+ "erythroid lineage cell",
+ "multicellular anatomical structure",
+ "taxon specific phenotype",
+ "anatomical collection",
+ "biological_process rate phenotype",
+ "thoracic segment organ",
+ "biogenic amine secreting cell",
+ "Abnormal musculoskeletal physiology",
+ "decreased number of anatomical entity",
+ "viscus",
+ "anatomical structure",
+ "musculoskeletal system phenotype",
+ "anatomical conduit",
+ "musculature",
+ "increased qualitatively response to stimulus",
+ "Thrombocytopenia",
+ "Abnormality of immune system physiology",
+ "trunk",
+ "myeloid cell",
+ "root",
+ "immune system",
+ "response to stress",
+ "organ system subdivision",
+ "All",
+ "Abnormal lung morphology",
+ "motile cell",
+ "independent continuant",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "respiratory tract",
+ "organism subdivision",
+ "main body axis",
+ "biological_process phenotype",
+ "anatomical structure phenotype",
+ "defense response phenotype",
+ "respiratory airway",
+ "lower respiratory tract",
+ "anatomical wall",
+ "subdivision of tube",
+ "non-connected functional system",
+ "increased qualitatively inflammatory response",
+ "respiratory system physiology phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "lung",
+ "increased inflammatory response",
+ "Abnormal inflammatory response",
+ "specifically dependent continuant",
+ "inflammatory response",
+ "increased response to stimulus in bone element",
+ "Osteomyelitis",
+ "biological_process",
+ "increased biological_process in bone element",
+ "skeletal system phenotype",
+ "inflammatory response phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "Abnormal leukocyte morphology",
+ "response to stimulus",
+ "platelet phenotype",
+ "increased response to stimulus",
+ "immune system physiology phenotype",
+ "occurrent",
+ "pleura",
+ "process",
+ "Abnormality of the skin",
+ "musculature of body",
+ "organ system subdivision phenotype",
+ "response to stimulus phenotype",
+ "increased biological_process",
+ "immune system phenotype",
+ "pair of lungs",
+ "musculoskeletal system physiology phenotype",
+ ],
+ "has_phenotype_count": 5,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0060779",
+ "category": "biolink:Disease",
+ "name": "acquired Fanconi syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Fanconi Syndrome caused by exposure to noxious agents.",
+ "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": ["acquired Fanconi syndrome"],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0060778",
+ "category": "biolink:Disease",
+ "name": "adult Fanconi syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
+ "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": ["HP:0003581"],
+ "has_phenotype_label": None,
+ "has_phenotype_closure": ["HP:0003581"],
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 1,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:1011504",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, horse",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Fanconi syndrome that occurs in horse.",
+ "xref": ["OMIA:000366-9796"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": None,
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0007600",
+ "category": "biolink:Disease",
+ "name": "primary Fanconi syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.",
+ "xref": ["GARD:9118", "MEDGEN:341765", "NCIT:C123229", "Orphanet:3337", "UMLS:C1857395"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0000117",
+ "HP:0003774",
+ "HP:0004918",
+ "HP:0002206",
+ "HP:0001943",
+ "HP:0002150",
+ "HP:0001944",
+ "HP:0012622",
+ "HP:0012606",
+ "HP:0004912",
+ "HP:0003537",
+ "HP:0003234",
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+ "HP:0002900",
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+ "HP:0003126",
+ "HP:0003076",
+ "HP:0002909",
+ "HP:0002049",
+ "HP:0001510",
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Renal phosphate wasting",
+ "Stage 5 chronic kidney disease",
+ "Hyperchloremic metabolic acidosis",
+ "Pulmonary fibrosis",
+ "Hypoglycemia",
+ "Hypercalciuria",
+ "Dehydration",
+ "Chronic kidney disease",
+ "Renal sodium wasting",
+ "Hypophosphatemic rickets",
+ "Hypouricemia",
+ "Decreased circulating carnitine concentration",
+ "Increased urinary potassium",
+ "Hypokalemia",
+ "Increased susceptibility to fractures",
+ "Bone pain",
+ "Hypophosphatemia",
+ "Weight loss",
+ "Muscle weakness",
+ "Abnormal urine pH",
+ "Bicarbonate-wasting renal tubular acidosis",
+ "Bicarbonaturia",
+ "Hyperuricosuria",
+ "Low-molecular-weight proteinuria",
+ "Glycosuria",
+ "Generalized aminoaciduria",
+ "Proximal renal tubular acidosis",
+ "Growth delay",
+ ],
+ "has_phenotype_closure": [
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+ "CHEBI:33318",
+ "HP:0003111",
+ ],
+ "has_phenotype_closure_label": [
+ "Growth delay",
+ "delayed growth",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "amino acid",
+ "urine amino acid level phenotype",
+ "urine glucose level phenotype",
+ "macromolecule",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "organic amino compound",
+ "urine uric acid level phenotype",
+ "increased level of purines",
+ "Hyperuricosuria",
+ "urine hydrogencarbonate level phenotype",
+ "Abnormality of urine bicarbonate level",
+ "hydrogencarbonate level phenotype",
+ "increased level of hydrogencarbonate in urine",
+ "hydrogencarbonate",
+ "decreased functionality of the nephron epithelium",
+ "tissue physiology phenotype",
+ "increased level of uric acid in urine",
+ "nephron tubule phenotype",
+ "decreased functionality of the nephron tubule",
+ "decreased functionality of the epithelium",
+ "nephron",
+ "excretory tube",
+ "decreased functionality of the anatomical structure",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "decreased functionality of the tissue",
+ "decreased functionality of the renal tubule",
+ "Renal tubular acidosis",
+ "Renal tubular dysfunction",
+ "tube phenotype",
+ "decreased functionality of the tube",
+ "epithelium",
+ "decreased functionality of the material anatomical entity",
+ "renal tubule",
+ "decreased functionality of the multicellular anatomical structure",
+ "epithelial tube phenotype",
+ "uriniferous tubule",
+ "nephron epithelium",
+ "renal tubule phenotype",
+ "muscle structure phenotype",
+ "decreased anatomical entity strength",
+ "multicellular organism mass phenotype",
+ "multicellular anatomical structure mass phenotype",
+ "Weight loss",
+ "anatomical entity mass phenotype",
+ "Decreased body weight",
+ "decreased anatomical structure mass",
+ "multicellular organism phenotype",
+ "Abnormality of body weight",
+ "Decreased multicellular organism mass",
+ "tube physiology phenotype",
+ "Constitutional symptom",
+ "Pain",
+ "anatomical entity dysfunction in independent continuant",
+ "Abnormal musculoskeletal physiology",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "monovalent inorganic cation",
+ "Abnormal blood cation concentration",
+ "inorganic molecular entity",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
+ "urine potassium atom level phenotype",
+ "s-block molecular entity",
+ "intracellular organelle",
+ "membrane-bounded organelle",
+ "cellular_component phenotype",
+ "Abnormality of the mitochondrion",
+ "musculoskeletal system phenotype",
+ "Abnormal circulating fatty-acid concentration",
+ "blood monocarboxylic acid level phenotype",
+ "nephron tubule",
+ "hydrogen molecular entity",
+ "hydroxides",
+ "oxide",
+ "intracellular membrane-bounded organelle",
+ "Abnormal circulating carnitine concentration",
+ "muscle organ",
+ "Increased urinary potassium",
+ "dipolar compound",
+ "oxoanion",
+ "muscle organ physiology phenotype",
+ "Abnormal cellular phenotype",
+ "amino acid derivative level phenotype",
+ "Abnormal circulating carboxylic acid concentration",
+ "increased level of organic acid in urine",
+ "amino-acid betaine",
+ "monocarboxylic acid",
+ "cell",
+ "Abnormal blood potassium concentration",
+ "carbon oxoacid",
+ "monocarboxylic acid anion",
+ "carbonyl compound",
+ "zwitterion",
+ "blood fatty acid anion level phenotype",
+ "Decreased circulating carnitine concentration",
+ "amino acid derivative",
+ "nephron epithelium phenotype",
+ "quaternary nitrogen compound",
+ "polyatomic anion",
+ "fatty acid anion",
+ "carboxylic acid",
+ "muscle structure physiology phenotype",
+ "lipid level phenotype",
+ "Abnormality of mitochondrial metabolism",
+ "molecule",
+ "cation",
+ "decreased level of purines",
+ "blood nitrogen molecular entity level phenotype",
+ "increased level of chemical entity in blood",
+ "blood nucleobase level phenotype",
+ "Azotemia",
+ "cyclic compound",
+ "organic molecule",
+ "polycyclic compound",
+ "nitrogen molecular entity",
+ "aromatic compound",
+ "Abnormal circulating nitrogen compound concentration",
+ "blood uric acid level phenotype",
+ "decreased level of uric acid in blood",
+ "imidazopyrimidine",
+ "growth",
+ "heteropolycyclic compound",
+ "heterobicyclic compound",
+ "organic heterocyclic compound",
+ "increased level of nitrogen molecular entity in blood",
+ "decreased functionality of the excretory tube",
+ "organonitrogen heterocyclic compound",
+ "Hypouricemia",
+ "increased level of chemical entity in bodily fluid",
+ "monoatomic entity",
+ "monoatomic ion",
+ "decreased level of chemical entity in blood",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "Hypophosphatemic rickets",
+ "Abnormal urine carboxylic acid level",
+ "decreased level of chemical entity",
+ "ion",
+ "cavitated compound organ",
+ "skeletal element",
+ "Abnormal circulating lipid concentration",
+ "Phenotypic abnormality",
+ "organic heteropolycyclic compound",
+ "blood organic molecular entity level phenotype",
+ "trunk region element phenotype",
+ "mitochondrion phenotype",
+ "abdominal segment of trunk",
+ "trunk region element",
+ "amide",
+ "chemical entity level phenotype",
+ "decreased functionality of the anatomical conduit",
+ "Chronic kidney disease",
+ "muscle structure",
+ "lipid",
+ "material anatomical entity",
+ "Hypoglycemia",
+ "Abnormality of the kidney",
+ "cavitated compound organ physiology phenotype",
+ "organic molecular entity",
+ "abdomen element",
+ "abdominal segment element physiology phenotype",
+ "Abnormality of urinary uric acid level",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "main body axis",
+ "decreased level of carnitine in blood",
+ "Renal sodium wasting",
+ "intracellular anatomical structure",
+ "heteroatomic molecular entity",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "amino-acid betaine level phenotype",
+ "excretory system",
+ "abdomen element phenotype",
+ "p-block molecular entity",
+ "excretory tube physiology phenotype",
+ "homeostatic process",
+ "material anatomical entity mass phenotype",
+ "Abnormal respiratory system physiology",
+ "Abnormal muscle physiology",
+ "Increased susceptibility to fractures",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "renal system physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "decreased level of amino-acid betaine",
+ "multicellular organism morphology phenotype",
+ "trunk",
+ "chemical entity",
+ "phosphorus molecular entity",
+ "organic oxo compound",
+ "excreta",
+ "carboxylic acid anion",
+ "multicellular anatomical structure physiology phenotype",
+ "genitourinary system",
+ "atom",
+ "regulation of body fluid levels",
+ "Abnormality of the urinary system physiology",
+ "Abnormality of the respiratory system",
+ "respiration organ phenotype",
+ "uric acid",
+ "metal atom",
+ "organism substance",
+ "trunk region element physiology phenotype",
+ "homeostatic process phenotype",
+ "viscus",
+ "main group molecular entity",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "polyatomic entity",
+ "Abnormal blood ion concentration",
+ "taxon specific phenotype",
+ "aldohexose",
+ "tissue",
+ "anatomical system physiology phenotype",
+ "Bone pain",
+ "Abnormality of the upper urinary tract",
+ "phosphate level phenotype",
+ "Proteinuria",
+ "protein-containing material entity",
+ "thoracic segment organ phenotype",
+ "phosphate",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "musculoskeletal system physiology phenotype",
+ "Abnormal skeletal morphology",
+ "alkaline earth metal atom",
+ "skeletal system phenotype",
+ "protein polypeptide chain",
+ "Abnormal circulating nucleobase concentration",
+ "continuant",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "decreased role blood level",
+ "musculature",
+ "polypeptide",
+ "organic ion",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "musculature of body",
+ "organic cyclic compound",
+ "Hyperchloremic acidosis",
+ "Abnormal bone structure",
+ "entity",
+ "Decreased anatomical entity mass density",
+ "main group element atom",
+ "Abnormality of the musculoskeletal system",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "Hypokalemia",
+ "mitochondrion",
+ "anatomical structure phenotype",
+ "urine organic anion level phenotype",
+ "Abnormality of the genitourinary system",
+ "phosphoric acid derivative",
+ "quality",
+ "Reduced bone mineral density",
+ "Renal insufficiency",
+ "anatomical entity fibrosis",
+ "Abnormality of metabolism/homeostasis",
+ "polyatomic ion",
+ "Dehydration",
+ "heteroarene",
+ "anatomical system phenotype",
+ "kidney epithelium",
+ "obsolete cell",
+ "Abnormal blood phosphate concentration",
+ "compound organ",
+ "phosphorus oxoacids and derivatives",
+ "anion",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "lateral structure",
+ "purines",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "bone element",
+ "abdomen element physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "organonitrogen compound",
+ "anatomical entity phenotype",
+ "mesoderm-derived structure phenotype",
+ "increased level of calcium atom in urine",
+ "chemical homeostasis",
+ "organic anion",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "nucleobase",
+ "Abnormal urine phosphate concentration",
+ "Generalized aminoaciduria",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "heterocyclic compound",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "cavitated compound organ phenotype",
+ "cellular anatomical entity",
+ "blood carboxylic acid level phenotype",
+ "Renal phosphate wasting",
+ "Glycosuria",
+ "abdominal segment element",
+ "Abnormal bone ossification",
+ "increased level of potassium atom in urine",
+ "blood",
+ "kidney physiology phenotype",
+ "multicellular organismal process",
+ "Muscle weakness",
+ "organ part",
+ "multicellular anatomical structure",
+ "lung morphology phenotype",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "Decreased bone element mass density",
+ "decreased functionality of the epithelial tube",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "acid bodily fluid level phenotype",
+ "carbohydrate",
+ "biological_process",
+ "material entity",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "oxopurine",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "independent continuant",
+ "Proximal renal tubular acidosis",
+ "abdomen",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "lung fibrosis",
+ "material anatomical entity phenotype",
+ "calcium atom level phenotype",
+ "Bicarbonate-wasting renal tubular acidosis",
+ "cell phenotype",
+ "skeletal system morphology phenotype",
+ "decreased material anatomical entity mass",
+ "subdivision of organism along main body axis",
+ "ammonium betaine",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "musculature phenotype",
+ "regulation of body fluid levels phenotype",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "subdivision of trunk",
+ "growth phenotype",
+ "blood lipid level phenotype",
+ "Abnormal respiratory system morphology",
+ "organism subdivision",
+ "epithelium phenotype",
+ "organ system subdivision phenotype",
+ "respiratory tract",
+ "organelle",
+ "upper urinary tract phenotype",
+ "Acidosis",
+ "excretory tube phenotype",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "kidney",
+ "urine sodium atom level phenotype",
+ "Abnormal circulating carbohydrate concentration",
+ "aldose",
+ "glucose",
+ "bodily fluid",
+ "thoracic cavity element phenotype",
+ "Abnormal glucose homeostasis",
+ "onium betaine",
+ "Hyperchloremic metabolic acidosis",
+ "Metabolic acidosis",
+ "organic aromatic compound",
+ "Abnormality of acid-base homeostasis",
+ "fatty acid level phenotype",
+ "tube",
+ "process",
+ "urine calcium atom level phenotype",
+ "multicellular organism",
+ "hematopoietic system",
+ "thoracic cavity element",
+ "blood carnitine level phenotype",
+ "carnitine",
+ "cytoplasm",
+ "musculoskeletal system",
+ "respiratory system morphology phenotype",
+ "decreased multicellular anatomical structure mass",
+ "fatty acid",
+ "All",
+ "anatomical collection",
+ "thoracic segment organ",
+ "lower respiratory tract",
+ "lung phenotype",
+ "endoderm-derived structure",
+ "regulation of biological quality",
+ "pair of lungs",
+ "Bicarbonaturia",
+ "respiration organ",
+ "Abnormality of the musculature",
+ "thoracic segment of trunk",
+ "carbohydrates and carbohydrate derivatives",
+ "metabolic process",
+ "endoderm-derived structure phenotype",
+ "decreased muscle organ strength",
+ "cellular_component",
+ "bicyclic compound",
+ "biological regulation phenotype",
+ "respiratory system phenotype",
+ "Pulmonary fibrosis",
+ "carbon group molecular entity",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "tissue phenotype",
+ "Abnormal circulating organic compound concentration",
+ "epithelial tube",
+ "respiratory system",
+ "anatomical system",
+ "Abnormal lung morphology",
+ "haemolymphatic fluid",
+ "Abnormal pulmonary interstitial morphology",
+ "respiratory airway",
+ "subdivision of tube",
+ "monosaccharide",
+ "glucose homeostasis",
+ "carbon oxoanion",
+ "renal system phenotype",
+ "respiratory system physiology phenotype",
+ "potassium atom level phenotype",
+ "viscus phenotype",
+ "Rickets",
+ "hemolymphoid system",
+ "chemical homeostasis phenotype",
+ "carbohydrate homeostasis",
+ "blood carbohydrate level phenotype",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
+ "Abnormal circulating fatty-acid anion concentration",
+ "hematopoietic system phenotype",
+ "kidney phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "decreased functionality of the anatomical entity",
+ "lateral structure phenotype",
+ "role blood level phenotype",
+ "sodium atom",
+ "heteroorganic entity",
+ "organooxygen compound",
+ "Abnormal urinary electrolyte concentration",
+ "Stage 5 chronic kidney disease",
+ "mesoderm-derived structure",
+ "organic heterobicyclic compound",
+ "glucose homeostasis phenotype",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "Abnormality of the skeletal system",
+ "lung",
+ "Abnormality of fluid regulation",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "role bodily fluid level phenotype",
+ "hexose",
+ "epithelium physiology phenotype",
+ "blood glucose level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal blood glucose concentration",
+ "Abnormal circulating monocarboxylic acid concentration",
+ "Hypophosphatemia",
+ "role urine level phenotype",
+ "Decreased anatomical entity mass",
+ "s-block element atom",
+ "Hypercalciuria",
+ "inorganic cation",
+ "Abnormal cellular physiology",
+ "increased level of chemical entity",
+ "increased urine role level",
+ "decreased functionality of the kidney epithelium",
+ "calcium atom",
+ "Abnormality of urine calcium concentration",
+ "anatomical structure mass phenotype",
+ "increased level of chemical entity in urine",
+ "proximo-distal subdivision of respiratory tract",
+ "biological regulation",
+ "Abnormal urinary organic compound level",
+ "blood fatty acid level phenotype",
+ "regulation of biological quality phenotype",
+ "multicellular anatomical structure phenotype",
+ "Abnormal urine sodium concentration",
+ "sodium atom level phenotype",
+ "Abnormal urine potassium concentration",
+ "bone element mass density phenotype",
+ "carbohydrate homeostasis phenotype",
+ "alkali metal atom",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "blood phosphate level phenotype",
+ "primary amide",
+ "elemental molecular entity",
+ ],
+ "has_phenotype_count": 29,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:1011503",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, dog",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Fanconi syndrome that occurs in dog.",
+ "xref": ["OMIA:000366-9615"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": None,
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0030056",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 5",
+ "full_name": None,
+ "deprecated": None,
+ "description": None,
+ "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "FANCONI RENOTUBULAR SYNDROME 5",
+ "FRTS5",
+ "Fanconi Renotubular Syndrome, Acadian Variant",
+ "Fanconi renotubular syndrome 5",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0003774",
+ "HP:0004918",
+ "HP:0002148",
+ "HP:0002206",
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+ "HP:0000093",
+ "HP:0003076",
+ "HP:0002097",
+ "HP:0030078",
+ "HP:0003355",
+ "HP:0005576",
+ "HP:0000822",
+ ],
+ "has_phenotype_label": [
+ "Stage 5 chronic kidney disease",
+ "Hyperchloremic metabolic acidosis",
+ "Hypophosphatemia",
+ "Pulmonary fibrosis",
+ "Hypophosphatemic rickets",
+ "Genu valgum",
+ "Decreased DLCO",
+ "Proteinuria",
+ "Glycosuria",
+ "Emphysema",
+ "Lung adenocarcinoma",
+ "Aminoaciduria",
+ "Tubulointerstitial fibrosis",
+ "Hypertension",
+ ],
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],
"has_phenotype_closure_label": [
- "number of anatomical enitites of type tissue phenotype",
- "tissue phenotype",
- "gray matter of forebrain",
- "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
- "cell layer phenotype",
- "absent septum pellucidum",
- "gray matter",
- "septum pellucidum phenotype",
- "absent anatomical structure in the brain ventricle/choroid plexus",
- "gray matter phenotype",
- "gray matter of telencephalon",
- "number of anatomical enitites of type lamina phenotype",
- "septum pellucidum",
- "absent material anatomical entity in the brain ventricle",
- "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
- "absent multicellular anatomical structure in the brain",
- "absent cell layer",
- "brain gray matter phenotype",
- "cell layer",
- "absent anatomical entity in the brain ventricle",
- "Abnormal septum pellucidum morphology",
- "absent multicellular anatomical structure in the brain ventricle",
- "decreased anatomical structure mass",
- "material anatomical entity mass phenotype",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "multicellular organism mass phenotype",
- "Decreased anatomical entity mass",
- "cornea phenotype",
- "neural crest-derived structure",
- "tunica fibrosa of eyeball",
- "ectoderm-derived structure, curved phenotype",
- "asymmetrically curved cornea",
- "Abnormal cornea morphology",
- "curved anatomical entity",
- "anatomical structure, asymmetrically curved phenotype",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "curvature anatomical entity",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "Abnormality of the curvature of the cornea",
- "Astigmatism",
- "cornea",
- "anterior segment of eyeball morphology phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Renal hypoplasia",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "brain white matter phenotype",
- "axon tract phenotype",
- "corpus callosum morphology phenotype",
- "intercerebral commissure phenotype",
- "absent corpus callosum",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "cerebral hemisphere",
- "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
- "Thin corpus callosum",
- "number of anatomical enitites of type commissure of telencephalon phenotype",
- "absent axon tract",
- "absent commissure of telencephalon",
- "number of anatomical enitites of type central nervous system cell part cluster phenotype",
- "nervous system commissure phenotype",
- "multicellular anatomical structure, curved phenotype",
- "absent anatomical entity in the brain",
- "cerebral hemisphere white matter phenotype",
- "number of anatomical enitites of type nervous system commissure phenotype",
- "number of anatomical enitites of type multi cell part structure phenotype",
- "absent tissue",
- "brain commissure morphology phenotype",
- "brain commissure",
- "number of anatomical enitites of type tract of brain phenotype",
- "absent intercerebral commissure",
- "Agenesis of corpus callosum",
- "white matter",
- "absent tract of brain",
- "intercerebral commissure",
- "dorsal telencephalic commissure",
- "Aplasia/Hypoplasia of the corpus callosum",
- "white matter phenotype",
- "cerebral subcortex",
- "absent anatomical structure in the brain",
- "absent anatomical entity in the nervous system",
- "aplasia or hypoplasia of corpus callosum",
- "absent central nervous system cell part cluster",
- "dorsal telencephalic commissure morphology phenotype",
- "tract of brain phenotype",
- "brain white matter",
- "tract of brain",
- "number of anatomical enitites of type corpus callosum phenotype",
- "brain commissure phenotype",
- "Aplasia/Hypoplasia of the cerebral white matter",
- "shape of continuant phenotype",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "brain gray matter",
- "Horseshoe kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "reproductive system morphology phenotype",
- "reproductive system phenotype",
- "Abnormal size of pituitary gland",
- "gland of diencephalon phenotype",
- "diencephalon phenotype",
- "decreased size of the reproductive gland",
- "hypothalamus-pituitary axis phenotype",
- "reproductive structure phenotype",
- "decreased size of the structure with developmental contribution from neural crest",
- "decreased size of the reproductive organ",
- "decreased size of the endocrine gland",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "Abnormal pituitary gland morphology",
- "pituitary gland phenotype",
- "reproductive organ",
- "size of pituitary gland phenotype",
- "reproductive gland morphology phenotype",
- "diencephalon morphology phenotype",
- "reproductive organ phenotype",
- "hypothalamus-pituitary axis",
- "Abnormality of the kidney",
- "renal system morphology phenotype",
- "kidney phenotype",
- "abdomen element phenotype",
+ "Abnormality of the vasculature",
+ "Abnormal systemic blood pressure",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "Hypertension",
+ "disconnected anatomical group",
+ "cardiovascular system",
+ "cardiovascular system physiology phenotype",
+ "kidney morphology phenotype",
+ "excretory tube",
+ "Renal fibrosis",
+ "Abnormal renal insterstitial morphology",
+ "kidney epithelium morphology phenotype",
"Abnormal renal morphology",
- "abdomen",
- "phalanx phenotype",
- "decreased size of the manus bone",
- "metacarpal bone of digit 1 morphology phenotype",
- "decreased size of the forelimb long bone",
- "decreased length of autopod endochondral element",
- "decreased length of manual digitopodium bone",
- "decreased size of the autopod endochondral element",
- "Aplasia/Hypoplasia of the phalanges of the thumb",
- "anatomical entity morphology in the skeleton of manus phenotype",
- "Aplasia/Hypoplasia of the phalanges of the hand",
- "abdomen element",
- "aplasia or hypoplasia of phalanx of manus",
- "decreased size of the digitopodium bone",
- "metacarpus skeleton phenotype",
- "decreased length of manual digit 1 phalanx endochondral element",
- "decreased length of manual digit bone",
- "phalanx endochondral element phenotype",
- "manus bone phenotype",
- "skeleton of digitopodium",
- "decreased length of phalanx of manus",
- "Small pituitary gland",
- "metapodium bone 1 phenotype",
- "Short metacarpal",
- "phalanx of manus phenotype",
- "Abnormal metacarpal morphology",
- "Short 1st metacarpal",
- "phalanx endochondral element",
- "manual digit phalanx endochondral element",
- "manual digit 1 digitopodial skeleton",
- "decreased length of phalanx",
- "Aplasia/Hypoplasia involving the metacarpal bones",
- "decreased length of manus bone",
- "absent anatomical structure in the brain ventricle",
- "decreased size of the phalanx endochondral element",
- "manual digit bone phenotype",
- "manual digit 1 metacarpus endochondral element phenotype",
- "manual digit phalanx endochondral element phenotype",
- "Short phalanx of the thumb",
- "Aplasia/Hypoplasia of the 1st metacarpal",
- "ocular surface region",
- "metacarpus skeleton",
- "digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "skeleton of manual acropodium",
- "skeleton of manual digitopodium",
- "metacarpal bone of digit 1 phenotype",
- "manual digit bone",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "metacarpus region",
- "metacarpal bone of digit 1",
- "manual digitopodium bone",
- "decreased size of the phalanx",
- "manual digit metacarpus endochondral element phenotype",
- "manual digit 1 phalanx endochondral element phenotype",
- "metacarpal bone",
- "metacarpal bone morphology phenotype",
- "manual digit 1 metacarpus endochondral element",
- "metapodium bone",
- "decreased length of manual digit metacarpus endochondral element",
- "decreased length of autopod bone",
- "metacarpal bone phenotype",
- "autopod bone phenotype",
- "decreased length of manual digit 1 metacarpus endochondral element",
- "phalanx morphology phenotype",
- "manual digitopodium bone phenotype",
- "manual digit 1 phalanx phenotype",
- "cardiac ventricle morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "interventricular septum",
- "cardiac ventricle",
- "Abnormal erythrocyte morphology",
- "Abnormal 1st metacarpal morphology",
- "erythroid lineage cell",
- "Irregular hyperpigmentation",
- "integumental system",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "incomplete closing of the thoracic segment blood vessel",
- "Abnormality of the integument",
- "outflow tract phenotype",
- "incomplete closing of the vessel",
- "Abnormal vascular morphology",
- "Renal hypoplasia/aplasia",
- "Abnormal morphology of the great vessels",
- "incomplete closing of the systemic artery",
- "vessel",
- "vascular system",
- "conceptus",
- "incomplete closing of the ductus arteriosus",
- "blood vessel phenotype",
- "U-shaped kidney",
- "artery morphology phenotype",
- "blood vessel",
- "coronary vessel",
- "vessel phenotype",
- "incomplete closing of the heart blood vessel",
- "multicellular anatomical structure morphology in the heart phenotype",
- "blood vessel morphology phenotype",
- "vascular system morphology phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "systemic arterial system",
- "trunk blood vessel phenotype",
- "coronary vessel morphology phenotype",
- "vasculature of organ phenotype",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
+ "Abnormal nephron morphology",
+ "nephron morphology phenotype",
+ "Increased blood pressure",
+ "Tubulointerstitial fibrosis",
+ "renal tubule",
+ "uriniferous tubule",
+ "nephron epithelium",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "oxoacid",
+ "increased level of organic acid in urine",
+ "renal system morphology phenotype",
+ "amino acid",
+ "increased level of carboxylic acid in urine",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Neoplasm",
+ "Neoplasm of the respiratory system",
+ "neoplasm phenotype",
+ "pathological process",
+ "Emphysema",
+ "tissue specific degenerative process",
"blood vasculature",
- "vasculature of trunk",
- "trunk blood vessel",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "great vessel of heart",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "vasculature",
- "systemic artery",
- "Abnormal blood vessel morphology",
- "Abnormality of the vasculature",
- "incomplete closing of the trunk blood vessel",
- "great vessel of heart morphology phenotype",
- "arterial blood vessel phenotype",
- "incomplete closing of the coronary vessel",
- "Abnormal auditory canal morphology",
- "external acoustic meatus atresia",
- "external acoustic meatus phenotype",
- "closing of the endoderm-derived structure",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "absent endochondral element",
- "absent neuron projection bundle",
- "absent radius endochondral element",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "absent bone element",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "Abnormal cerebral white matter morphology",
- "hormone secretion",
- "absent skeletal element",
- "paired limb/fin",
- "Aplasia involving forearm bones",
- "absent forelimb bone",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "Hearing impairment",
- "bone of dorsum",
- "absent limb long bone",
- "kidney hypoplasia",
- "thyroid gland phenotype",
- "absent bone of pectoral complex",
- "decreased length of metacarpal bone of digit 1",
- "number of anatomical enitites of type organ phenotype",
- "absent organ in the multicellular organism",
- "absent bone of free limb or fin",
- "absent anatomical entity in the skeletal system",
- "absent multicellular anatomical structure",
- "absent anatomical entity in the forelimb",
- "autopod bone",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity",
- "number of anatomical enitites of type neuron projection bundle phenotype",
- "acropodium region",
- "Absent radius",
- "decreased biological_process",
- "absent bone element in the forelimb",
- "absent arm bone",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent bone of pectoral complex in the forelimb",
- "middle ear phenotype",
- "absent ectoderm-derived structure in the brain",
- "absent bone of pectoral complex in the limb",
- "middle ear",
- "pigmentation",
- "small intestine phenotype",
- "absent bone of free limb or fin in the limb",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "closing of the multicellular anatomical structure",
- "circulatory system",
- "digestive system element",
+ "pathological phenotype observation",
+ "Lung adenocarcinoma",
+ "increased level of monosaccharide in urine",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "macromolecule",
+ "vascular system",
+ "increased level of chemical entity in urine",
+ "carbon group molecular entity",
+ "organic molecular entity",
+ "nitrogen molecular entity",
+ "peptide",
+ "organic oxo compound",
+ "excreta",
+ "organooxygen compound",
+ "heteroorganic entity",
+ "Abnormal urine protein level",
+ "increased urine role level",
+ "increased level of chemical entity",
+ "urine",
+ "organic amino compound",
+ "role urine level phenotype",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
+ "organism subdivision, curved phenotype",
+ "long bone phenotype",
+ "limb morphology phenotype",
+ "nephron tubule",
+ "Abnormal renal tubule morphology",
+ "hydrogen molecular entity",
+ "endochondral bone phenotype",
+ "bone of appendage girdle complex phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "aldohexose",
+ "zone of organ",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "Abnormality of limbs",
+ "organism subdivision phenotype",
+ "appendicular skeleton",
+ "limb skeleton subdivision",
+ "appendicular skeletal system",
+ "endochondral element",
+ "epithelium",
+ "system",
+ "limb endochondral element phenotype",
+ "appendage girdle complex",
+ "lower limb segment, curved phenotype",
+ "pelvic complex",
+ "multi-limb segment region phenotype",
+ "endochondral element phenotype",
+ "blood vessel",
+ "multi-limb segment region",
+ "skeletal joint phenotype",
+ "Bowing of the long bones",
+ "shape hindlimb zeugopod",
+ "decreased level of chemical entity in blood",
+ "Abnormal urine carboxylic acid level",
+ "decreased level of chemical entity",
+ "blood monoatomic ion level phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "trunk",
+ "hindlimb joint",
+ "amide",
+ "Abnormality of limb bone",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "phosphorus molecular entity",
+ "primary amide",
"limb bone morphology phenotype",
- "small intestine morphology phenotype",
- "biogenic amine secreting cell",
- "closing of the anatomical system",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "cranial nerve II hypoplasia",
- "closing of the organ part",
+ "elemental molecular entity",
+ "main group molecular entity",
+ "haemolymphatic fluid",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "homeostatic process",
+ "Abnormal respiratory system physiology",
+ "cardiovascular system phenotype",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "ion",
+ "chemical entity",
+ "Hyperchloremic metabolic acidosis",
+ "zone of long bone",
+ "mesoderm-derived structure phenotype",
+ "organonitrogen compound",
+ "appendage",
+ "anatomical entity phenotype",
+ "bone element",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "organism substance",
+ "process",
+ "homeostatic process phenotype",
+ "Abnormal knee morphology",
+ "trunk region element physiology phenotype",
+ "viscus",
+ "articulation",
+ "skeletal joint morphology phenotype",
+ "kidney",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Abnormal tubulointerstitial morphology",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "Genu valgum",
+ "process of degenerative change",
+ "lower limb segment phenotype",
+ "organ phenotype",
+ "lung fibrosis",
+ "hematopoietic system phenotype",
+ "Abnormal limb bone morphology",
+ "blood chemical entity level phenotype",
+ "mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "abdomen element phenotype",
+ "circulatory system",
+ "long bone morphology phenotype",
+ "excretory system",
+ "main body axis",
+ "organism subdivision",
+ "limb segment phenotype",
+ "bone of appendage girdle complex",
+ "multicellular anatomical structure phenotype",
+ "skeletal system",
+ "subdivision of trunk",
+ "monoatomic entity",
+ "Abnormality of the lower limb",
+ "paired limb/fin segment, curved phenotype",
+ "blood",
+ "subdivision of organism along main body axis",
+ "Bowing of the legs",
+ "Abnormality of the skeletal system",
+ "lung",
+ "skeletal system morphology phenotype",
+ "carbohydrate",
+ "biological_process",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "limb bone phenotype",
+ "Hypophosphatemia",
+ "articular system",
+ "material entity",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "Decreased DLCO",
+ "blood phosphate level phenotype",
+ "body proper",
+ "biological_process phenotype",
+ "abdominal segment element phenotype",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "Phenotypic abnormality",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "Renal insufficiency",
+ "hindlimb zeugopod phenotype",
+ "respiration organ phenotype",
+ "anatomical structure",
+ "hindlimb zeugopod morphology phenotype",
"anatomical conduit",
- "Abnormal intestine morphology",
- "duodenum atresia",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "phosphate level phenotype",
+ "Proteinuria",
+ "material anatomical entity, curved phenotype",
+ "protein-containing material entity",
+ "hindlimb",
+ "Abnormality of the upper urinary tract",
+ "phosphate",
+ "thoracic segment organ phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "emphysema",
+ "lateral structure phenotype",
+ "polyatomic entity",
+ "Chronic kidney disease",
+ "material anatomical entity",
+ "posterior region of body",
+ "multicellular anatomical structure",
+ "lung morphology phenotype",
+ "kidney physiology phenotype",
+ "respiratory tract",
+ "organ system subdivision phenotype",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "Abnormality of the kidney",
+ "limb segment, curved phenotype",
+ "trunk region element phenotype",
+ "lateral structure",
+ "abdomen element",
+ "protein polypeptide chain",
+ "continuant",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical entity fibrosis",
+ "specifically dependent continuant",
+ "abdominal segment element physiology phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "zeugopod",
+ "skeletal element",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "zeugopod, curved phenotype",
+ "Abnormality of the urinary system physiology",
+ "Abnormality of the respiratory system",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "paired limb/fin segment phenotype",
+ "tissue",
+ "anatomical system physiology phenotype",
+ "bodily fluid",
+ "thoracic cavity element phenotype",
+ "material anatomical entity phenotype",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "independent continuant",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "Abnormal cardiovascular system physiology",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "Decreased anatomical entity mass density",
+ "anatomical entity physiology phenotype",
+ "zone of bone organ",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "renal system",
+ "phenotype",
+ "Hyperchloremic acidosis",
+ "Abnormal bone structure",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "organ",
+ "nephron",
+ "curved long bone",
+ "renal system physiology phenotype",
+ "kidney epithelium",
+ "Abnormal blood phosphate concentration",
+ "compound organ",
+ "phosphorus oxoacids and derivatives",
+ "shape long bone",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "abdominal segment of trunk",
+ "abdomen",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "material anatomical entity physiology phenotype",
+ "Neoplasm of the lung",
+ "phosphoric acid derivative",
+ "quality",
+ "Abnormality of the cardiovascular system",
+ "Abnormality of the genitourinary system",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "Neoplasm by anatomical site",
+ "p-block molecular entity",
+ "Elevated urinary carboxylic acid",
+ "cell and tissue damage process",
+ "skeleton",
+ "Abnormality on pulmonary function testing",
+ "leg phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "hematopoietic system",
"multicellular organism",
- "Abnormal gastrointestinal tract morphology",
- "external ear phenotype",
- "Abnormality of the head",
- "multi cell part structure",
- "closing of the subdivision of tube",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "absent bone of appendage girdle complex in the limb",
- "subdivision of digestive tract phenotype",
- "secretion by cell phenotype",
- "digestive tract",
- "skeleton of limb",
- "decreased length of manual digit phalanx endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "small intestine",
- "duodenum phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "tube phenotype",
- "sense organ physiology phenotype",
- "arm phenotype",
- "Abnormal immune system morphology",
- "Bone marrow hypocellularity",
- "leukocyte morphology phenotype",
- "system",
- "thoracic segment of trunk",
- "decreased length of endochondral element",
- "bone of pectoral complex phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
+ "thoracic cavity element",
+ "All",
+ "anatomical collection",
+ "thoracic segment organ",
+ "vessel",
+ "diaphysis",
+ "lower respiratory tract",
+ "lung phenotype",
+ "articulation phenotype",
+ "pelvic appendage",
+ "endoderm-derived structure",
+ "pair of lungs",
+ "respiration organ",
+ "shape of continuant phenotype",
+ "Abnormal DLCO",
+ "anatomical entity morphology phenotype",
"subdivision of organism along appendicular axis",
- "ventricular system of brain",
- "absent anatomical entity in the central nervous system",
- "aplasia or hypoplasia of anatomical entity",
- "decreased length of forelimb endochondral element",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "formed ectoderm-derived structure",
- "decreased size of the limb endochondral element",
- "middle ear physiology phenotype",
- "appendicular skeleton phenotype",
- "digestive system phenotype",
- "reproductive gland",
- "vertebra",
- "Optic nerve hypoplasia",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "aplastic anatomical entity",
- "vertebra phenotype",
- "skeleton phenotype",
- "subdivision of digestive tract",
- "decreased size of the reproductive structure",
- "regulation of gene expression",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "decreased qualitatively biological_process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "decreased length of metacarpal bone",
- "decreased nervous system process",
- "great vessel of heart phenotype",
- "bone of appendage girdle complex phenotype",
- "reproductive system",
- "material anatomical entity morphology in the heart phenotype",
- "decreased size of the organ",
- "decreased length of digitopodium bone",
- "radius bone phenotype",
- "aplasia or hypoplasia of skeleton",
- "cervical vertebra phenotype",
- "corpus callosum",
- "long bone phenotype",
- "decreased length of metapodium bone 1",
- "appendage girdle complex",
- "Aplasia/hypoplasia involving forearm bones",
- "white matter of forebrain phenotype",
- "Abnormality of limb bone",
- "fused skeletal joint and skeletal joint",
- "decreased size of the mesoderm-derived structure",
- "absent anatomical structure",
- "Abnormal forearm morphology",
- "vertebral column",
- "zeugopodial skeleton",
- "quality",
- "size of anatomical entity phenotype",
- "gland of diencephalon",
- "Abnormality of head or neck",
- "cell-cell signaling",
- "vestibulo-auditory system",
- "Abnormal endocrine morphology",
- "long bone morphology phenotype",
- "decreased length of phalanx endochondral element",
- "metencephalon",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "metapodial skeleton phenotype",
- "skin of body morphology phenotype",
- "paired limb/fin skeleton phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "decreased length of bone of pectoral complex",
- "Aplasia involving bones of the extremities",
- "absent limb bone",
- "lower urinary tract",
- "outflow tract",
- "organ part atresia",
- "individual digit of digitopodial skeleton",
- "anatomical entity atresia",
- "myeloid cell",
- "autopod region",
- "limb phenotype",
+ "thoracic segment of trunk",
+ "metabolic process",
+ "endoderm-derived structure phenotype",
+ "respiratory system phenotype",
+ "Pulmonary fibrosis",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "organ part",
+ "multicellular organismal process",
+ "epithelial tube",
+ "respiratory system",
+ "Abnormal pulmonary interstitial morphology",
+ "skeleton of limb",
+ "knee morphology phenotype",
+ "respiratory airway",
+ "subdivision of tube",
+ "renal system phenotype",
+ "respiratory system physiology phenotype",
+ "viscus phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "Abnormal skeletal morphology",
+ "Decreased bone element mass density",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "musculature of body",
+ "skeletal element phenotype",
+ "curved anatomical entity",
+ "skeletal system phenotype",
+ "lower limb segment",
+ "Reduced bone mineral density",
+ "bone element mass density phenotype",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "Abnormal respiratory system morphology",
+ "shape anatomical entity",
+ "paired limb/fin phenotype",
+ "curved hindlimb zeugopod",
"Abnormal appendicular skeleton morphology",
- "anatomical entity length phenotype",
- "negative regulation of metabolic process phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "anucleate cell",
- "Vesicoureteral reflux",
+ "appendage phenotype",
+ "knee phenotype",
+ "limb endochondral element",
+ "lateral structure physiology phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "paired limb/fin",
+ "multi organ part structure phenotype",
+ "paired limb/fin segment",
+ "Abnormality of the knee",
+ "monoatomic ion",
+ "leg",
+ "nephron tubule morphology phenotype",
+ "long bone",
+ "increased level of protein polypeptide chain in urine",
+ "Abnormal joint morphology",
+ "limb segment",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "hindlimb joint phenotype",
+ "heteroatomic molecular entity",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Organic aciduria",
+ "Abnormal diaphysis morphology",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "Rickets",
+ "multi organ part structure",
+ "vasculature phenotype",
+ "Non-small cell lung carcinoma",
+ "skeletal joint",
+ "organ, curved phenotype",
+ "skeletal element, curved phenotype",
+ "respiratory system morphology phenotype",
+ "musculoskeletal system",
+ "curvature anatomical entity",
+ "limb joint",
+ "limb bone",
+ "Hypophosphatemic rickets",
+ "knee",
+ "vasculature",
+ "Abnormal long bone morphology",
+ "hindlimb zeugopod",
+ "Abnormal lung morphology",
+ "anatomical system",
+ "Abnormality of lower limb joint",
+ "zeugopod phenotype",
+ "bone element, curved phenotype",
+ "limb",
+ ],
+ "has_phenotype_count": 14,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0014275",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 3",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
+ "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "EHHADH Fanconi syndrome",
+ "FRTS3",
+ "Fanconi renotubular syndrome 3",
+ "Fanconi renotubular syndrome type 3",
+ "Fanconi syndrome caused by mutation in EHHADH",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001942",
+ "HP:0003259",
+ "HP:0001510",
+ "HP:0003109",
+ "HP:0002748",
+ "HP:0002979",
+ "HP:0003076",
+ "HP:0000083",
+ "HP:0004322",
+ "HP:0003355",
+ "HP:0003126",
+ ],
+ "has_phenotype_label": [
+ "Metabolic acidosis",
+ "Elevated circulating creatinine concentration",
+ "Growth delay",
+ "Hyperphosphaturia",
+ "Rickets",
+ "Bowing of the legs",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Short stature",
+ "Aminoaciduria",
+ "Low-molecular-weight proteinuria",
+ ],
+ "has_phenotype_closure": [
+ "HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:16670",
+ "CHEBI:15841",
+ "HP:0003355",
+ "CHEBI:33674",
+ "UPHENO:0046286",
+ "UPHENO:0068169",
+ "HP:0031980",
+ "CHEBI:50047",
+ "CHEBI:33575",
+ "HP:0032943",
+ "CHEBI:33709",
+ "CHEBI:24651",
+ "CHEBI:36586",
+ "HP:0012072",
+ "UPHENO:0075195",
+ "UPHENO:0069327",
+ "UPHENO:0068971",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0069254",
+ "UPHENO:0002949",
+ "UPHENO:0069266",
+ "UPHENO:0075159",
+ "UPHENO:0002386",
+ "UBERON:0000916",
+ "UBERON:0002417",
+ "UPHENO:0003094",
+ "UBERON:0005177",
+ "UPHENO:0002754",
+ "UPHENO:0002377",
+ "UPHENO:0002360",
+ "UBERON:0009569",
+ "UBERON:0013701",
+ "UPHENO:0002308",
+ "HP:0012211",
+ "UPHENO:0002422",
+ "UPHENO:0075902",
+ "UBERON:0000489",
+ "UBERON:0005173",
+ "UBERON:0011676",
+ "UPHENO:0003093",
+ "UPHENO:0002909",
+ "UPHENO:0002246",
+ "HP:0025745",
+ "CHEBI:18133",
+ "CHEBI:15693",
+ "UPHENO:0081544",
+ "CHEBI:17234",
+ "UPHENO:0068054",
+ "CHEBI:35381",
+ "HP:0000077",
+ "CHEBI:78616",
+ "CHEBI:36587",
+ "UPHENO:0089294",
+ "RO:0002577",
+ "UPHENO:0003070",
+ "UPHENO:0031166",
+ "HP:0040064",
+ "UPHENO:0041226",
+ "UBERON:0010912",
+ "UBERON:0000075",
+ "UBERON:0000475",
+ "UPHENO:0031220",
+ "UPHENO:0084767",
+ "UPHENO:0051739",
+ "UPHENO:0051900",
+ "UPHENO:3000004",
+ "HP:6000531",
+ "UPHENO:0068352",
+ "CHEBI:33839",
+ "CHEBI:26079",
+ "CHEBI:24833",
+ "UBERON:0001008",
+ "UPHENO:0068491",
+ "CHEBI:36360",
+ "HP:0430071",
+ "BFO:0000020",
+ "UBERON:0001088",
+ "HP:0003076",
+ "UPHENO:0000543",
+ "UPHENO:0031302",
+ "CHEBI:23367",
+ "UPHENO:0002526",
+ "HP:0006487",
+ "PR:000050567",
+ "BFO:0000003",
+ "HP:0011844",
+ "UBERON:0004709",
+ "CHEBI:55370",
+ "UBERON:8450002",
+ "HP:0012100",
+ "HP:0000002",
+ "HP:0033354",
+ "HP:0002157",
+ "UPHENO:0081423",
+ "UPHENO:0002642",
+ "CHEBI:25806",
+ "UBERON:0002113",
+ "UPHENO:0002585",
+ "CHEBI:50860",
+ "UPHENO:0079534",
+ "CHEBI:33661",
+ "UPHENO:0001002",
+ "HP:0004364",
+ "UPHENO:0078550",
+ "CHEBI:33675",
+ "UPHENO:0003005",
+ "CHEBI:25367",
+ "CHEBI:33285",
+ "UPHENO:0076727",
+ "CHEBI:36357",
+ "UPHENO:0051894",
+ "UPHENO:0086956",
+ "UPHENO:0000541",
+ "UPHENO:0068442",
+ "CHEBI:36963",
+ "UPHENO:0046383",
+ "CHEBI:36962",
+ "UPHENO:0002830",
+ "UPHENO:0080351",
+ "UPHENO:0076286",
+ "GO:0008152",
+ "UPHENO:0002385",
+ "HP:0001942",
+ "UPHENO:0002525",
+ "UPHENO:0002870",
+ "HP:0011277",
+ "UPHENO:0051763",
+ "UPHENO:0068049",
+ "CHEBI:51143",
+ "HP:0004360",
+ "UPHENO:0002632",
+ "UBERON:0002103",
+ "CHEBI:38261",
+ "HP:0000119",
+ "CHEBI:23443",
+ "UPHENO:0001001",
+ "CHEBI:16646",
+ "CHEBI:38304",
+ "CHEBI:38101",
+ "UPHENO:0041573",
+ "BFO:0000004",
+ "CHEBI:33241",
+ "UBERON:0002193",
+ "UBERON:0000154",
+ "UPHENO:0068472",
+ "UPHENO:0041098",
+ "CHEBI:33832",
+ "UBERON:0000468",
+ "HP:0012591",
+ "HP:0001510",
+ "HP:0003109",
+ "HP:0001507",
+ "CHEBI:37577",
+ "GO:0040007",
+ "UPHENO:0031228",
+ "CHEBI:16737",
+ "HP:0001939",
+ "UPHENO:0084763",
+ "HP:0000001",
+ "CHEBI:32988",
+ "UPHENO:0081581",
+ "CHEBI:24431",
+ "UPHENO:0049874",
+ "UBERON:0003823",
+ "HP:0001871",
+ "UPHENO:0002426",
+ "UPHENO:0046284",
+ "UBERON:0003103",
+ "UPHENO:0068110",
+ "UPHENO:0077817",
+ "HP:0000118",
+ "UBERON:0000178",
+ "UPHENO:0082539",
+ "UBERON:0004120",
+ "UPHENO:0002964",
+ "UBERON:0002101",
+ "UPHENO:0068144",
+ "UBERON:0010707",
+ "UPHENO:0002554",
+ "BFO:0000001",
+ "HP:0012337",
+ "UPHENO:0076692",
+ "UPHENO:0002536",
+ "HP:0001941",
+ "UPHENO:0051804",
+ "UPHENO:0049904",
+ "UPHENO:0002559",
+ "CHEBI:5686",
+ "UPHENO:0002593",
+ "UPHENO:0089764",
+ "BFO:0000002",
+ "CHEBI:33256",
+ "UPHENO:0002926",
+ "UPHENO:0003065",
+ "CHEBI:33302",
+ "UPHENO:0002269",
+ "CHEBI:25693",
+ "UBERON:0000061",
+ "BFO:0000015",
+ "UBERON:0005055",
+ "UBERON:0006314",
+ "UPHENO:0003088",
+ "UBERON:0001015",
+ "BFO:0000040",
+ "UPHENO:0082834",
+ "UPHENO:0002861",
+ "HP:0004349",
+ "UBERON:0001062",
+ "PATO:0000001",
+ "UPHENO:0002442",
+ "UBERON:0000978",
+ "UBERON:0011249",
+ "CHEBI:33670",
+ "CHEBI:37622",
+ "CHEBI:24532",
+ "CHEBI:35352",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "CHEBI:33579",
+ "UBERON:0004769",
+ "UPHENO:0048707",
+ "HP:0011849",
+ "UPHENO:0003049",
+ "GO:0008150",
+ "UPHENO:0068064",
+ "CHEBI:72695",
+ "UPHENO:0002530",
+ "HP:0001992",
+ "UBERON:0002390",
+ "UBERON:0010000",
+ "UPHENO:0082536",
+ "HP:0032180",
+ "UPHENO:0081547",
+ "UPHENO:0002427",
+ "UPHENO:0077826",
+ "UBERON:0011216",
+ "UBERON:0005172",
+ "UPHENO:0052038",
+ "UBERON:0001969",
+ "UPHENO:0031339",
+ "UBERON:0013702",
+ "HP:0002813",
+ "CHEBI:33304",
+ "UPHENO:0068346",
+ "UPHENO:0049587",
+ "CHEBI:33595",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "HP:0012599",
+ "HP:0040156",
+ "UBERON:0000463",
+ "CHEBI:26020",
+ "HP:0000924",
+ "UBERON:0000174",
+ "GO:0001503",
+ "HP:0020129",
+ "UPHENO:0046348",
+ "CHEBI:36359",
+ "HP:0003110",
+ "HP:0010935",
+ "UBERON:0004122",
+ "UBERON:0002100",
+ "UPHENO:0082875",
+ "UBERON:0001474",
+ "CHEBI:26082",
+ "UPHENO:0031122",
+ "UPHENO:0051686",
+ "CHEBI:64709",
+ "UPHENO:0002267",
+ "UPHENO:0002976",
+ "HP:0003330",
+ "UPHENO:0041610",
+ "HP:0004348",
+ "UBERON:0000062",
+ "UPHENO:0084654",
+ "UPHENO:0076703",
+ "UBERON:0011143",
+ "UPHENO:0002816",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "UPHENO:0068251",
+ "UBERON:0004288",
+ "UBERON:0001434",
+ "HP:0000083",
+ "GO:0032501",
+ "UBERON:0002204",
+ "HP:0003126",
+ "UPHENO:0002803",
+ "UPHENO:0002832",
+ "HP:0002748",
+ "UBERON:0004708",
+ "HP:0011842",
+ "UPHENO:0084653",
+ "UPHENO:0082835",
+ "UPHENO:0031271",
+ "UBERON:0010740",
+ "UPHENO:0080658",
+ "UBERON:0002495",
+ "UPHENO:0002785",
+ "HP:0000079",
+ "UBERON:0002513",
+ "UBERON:0002529",
+ "UPHENO:0041536",
+ "GO:0042592",
+ "UBERON:0034925",
+ "UBERON:0000064",
+ "UPHENO:0031123",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "UPHENO:0080352",
+ "UBERON:0000179",
+ "UBERON:0000026",
+ "UPHENO:0068565",
+ "UPHENO:0002750",
+ "UBERON:0010363",
+ "UBERON:0010538",
+ "UPHENO:0051630",
+ "UBERON:0010712",
+ "CHEBI:35605",
+ "UPHENO:0041591",
+ "UBERON:0002091",
+ "UPHENO:0086780",
+ "UBERON:0010709",
+ "UBERON:0008784",
+ "UPHENO:0002983",
+ "UPHENO:0002944",
+ "HP:0002979",
+ "UBERON:0002471",
+ "HP:0040068",
+ "UPHENO:0075952",
+ "CHEBI:24995",
+ "UPHENO:0002945",
+ "UPHENO:0031318",
+ "UPHENO:0002600",
+ "UBERON:0011582",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "UBERON:0015061",
+ "CHEBI:33917",
+ "UBERON:0004375",
+ "UPHENO:0051635",
+ "UBERON:0001977",
+ "UBERON:0000383",
+ "UPHENO:0003095",
+ "UPHENO:0076285",
+ "UBERON:0015212",
+ "UPHENO:0041258",
+ "UBERON:0005913",
+ "UPHENO:0004459",
+ "UBERON:0002428",
+ "HP:0011314",
+ "UBERON:0034944",
+ "UPHENO:0080300",
+ "UPHENO:0002896",
+ "UPHENO:0031323",
+ "UPHENO:0031276",
+ "CHEBI:33608",
+ "HP:0000940",
+ "HP:0003259",
+ "UBERON:0010758",
+ "UPHENO:0076740",
+ "UPHENO:0086628",
+ "UBERON:0004381",
+ "HP:0002814",
+ "UPHENO:0002411",
+ "HP:0002981",
+ "UPHENO:0031142",
+ "UPHENO:0002731",
+ "UBERON:0006058",
+ ],
+ "has_phenotype_closure_label": [
+ "macromolecule",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "amino acid level phenotype",
+ "Abnormal urine carboxylic acid level",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "organic amino compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "Short stature",
+ "decreased height of the anatomical entity",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "kidney",
+ "upper urinary tract phenotype",
+ "abdomen element phenotype",
+ "subdivision of trunk",
+ "main body axis",
+ "subdivision of organism along main body axis",
+ "Abnormality of the kidney",
+ "Renal insufficiency",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "abdomen",
"trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "absent limb bone in the forelimb",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "subdivision of skeleton",
- "paired limb/fin phenotype",
- "Functional abnormality of the bladder",
- "decreased number of anatomical structure",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "forelimb endochondral element",
- "tube",
- "interatrial septum morphology phenotype",
- "subdivision of tube phenotype",
- "Intestinal atresia",
- "All",
- "formed anatomical structure",
- "limb bone",
- "camera-type eye phenotype",
- "Decreased head circumference",
- "pectoral appendage skeleton",
- "absent mesoderm-derived structure in the forelimb",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "bone of pectoral complex morphology phenotype",
- "appendage phenotype",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "central nervous system cell part cluster",
- "ventricle of nervous system phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the pituitary gland",
- "Abnormal upper limb bone morphology",
- "brain white matter morphology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "abdomen element",
+ "abdominal segment element physiology phenotype",
+ "kidney physiology phenotype",
+ "trunk region element physiology phenotype",
+ "increased level of monosaccharide in urine",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "increased urine role level",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "role urine level phenotype",
+ "organism subdivision, curved phenotype",
+ "hindlimb zeugopod phenotype",
+ "shape hindlimb zeugopod",
+ "long bone phenotype",
+ "limb morphology phenotype",
+ "hydrogen molecular entity",
+ "endochondral bone phenotype",
+ "bone of appendage girdle complex phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "aldohexose",
+ "zone of organ",
+ "organism subdivision",
+ "renal system phenotype",
+ "organic molecule",
+ "anatomical system physiology phenotype",
+ "growth",
+ "delayed growth",
+ "molecule",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "material anatomical entity phenotype",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "homeostatic process phenotype",
+ "kidney phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "hematopoietic system phenotype",
+ "Abnormal limb bone morphology",
+ "blood chemical entity level phenotype",
+ "increased level of chemical entity in blood",
+ "taxon specific phenotype",
+ "phosphate level phenotype",
+ "hindlimb",
+ "increased level of chemical entity in blood serum",
+ "urine",
+ "increased level of creatinine in blood serum",
+ "Azotemia",
+ "imidazolidinone",
"independent continuant",
+ "appendage girdle complex",
+ "lower limb segment, curved phenotype",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "organic molecular entity",
+ "monocyclic compound",
+ "size of anatomical entity phenotype",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "long bone",
+ "blood creatinine level phenotype",
+ "phenotype",
+ "bone of appendage girdle complex",
+ "increased blood role level",
+ "leg",
+ "body proper",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "organooxygen compound",
+ "heteroorganic entity",
+ "genitourinary system",
+ "blood organic molecular entity level phenotype",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "growth phenotype",
+ "shape anatomical entity",
+ "nitrogen molecular entity",
+ "Abnormal circulating organic compound concentration",
+ "Metabolic acidosis",
+ "oxoacid",
+ "delayed biological_process",
+ "limb skeleton subdivision",
+ "organic heteromonocyclic compound",
+ "metabolic process",
+ "Abnormality of the urinary system physiology",
+ "zeugopod, curved phenotype",
+ "lactam",
+ "material anatomical entity",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "blood serum chemical entity level phenotype",
+ "anatomical system",
+ "organic cyclic compound",
+ "Abnormal bone structure",
+ "trunk",
+ "role blood serum level phenotype",
+ "limb",
+ "chemical entity",
+ "abdominal segment element",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "Acidosis",
+ "material entity",
+ "shape long bone",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "abdomen element physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "imidazolidines",
+ "paired limb/fin segment phenotype",
+ "process",
+ "role bodily fluid level phenotype",
+ "blood plasma chemical entity level phenotype",
+ "curved hindlimb zeugopod",
+ "blood serum",
+ "posterior region of body",
+ "multicellular anatomical structure",
+ "lateral structure phenotype",
+ "role blood level phenotype",
+ "multicellular organism chemical entity level phenotype",
+ "carboxamide",
+ "endochondral element",
+ "organism subdivision phenotype",
+ "carbohydrate",
+ "increased bodily fluid role level",
+ "biological_process",
+ "anatomical structure",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "Bowing of the long bones",
"limb endochondral element phenotype",
- "digit morphology phenotype",
- "decreased size of the skeletal element",
- "absent long bone",
- "pituitary gland",
- "irregular bone phenotype",
- "alimentary part of gastrointestinal system atresia",
- "decreased length of anatomical entity",
- "fused cervical vertebra and anatomical entity",
- "upper limb segment",
+ "subdivision of skeletal system",
+ "entity",
+ "s-block molecular entity",
+ "increased level of chemical entity in blood plasma",
+ "Elevated circulating creatinine concentration",
+ "bone element mass density phenotype",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "specifically dependent continuant",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "organism substance",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "anatomical entity physiology phenotype",
+ "zone of bone organ",
+ "limb bone phenotype",
+ "multicellular organism phenotype",
+ "heteromonocyclic compound",
+ "haemolymphatic fluid",
+ "Abnormal circulating creatinine concentration",
+ "increased level of chemical entity",
+ "Abnormal urinary electrolyte concentration",
+ "mesoderm-derived structure",
+ "Abnormality of acid-base homeostasis",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "appendage",
+ "homeostatic process",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "Abnormality of metabolism/homeostasis",
+ "increased level of chemical entity in bodily fluid",
+ "increased level of chemical entity in urine",
+ "phosphate",
+ "organonitrogen heterocyclic compound",
+ "p-block molecular entity",
+ "Elevated urinary carboxylic acid",
+ "skeleton",
+ "multicellular organism",
+ "hematopoietic system",
+ "Bowing of the legs",
+ "Abnormality of the skeletal system",
+ "appendicular skeleton",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "cavitated compound organ",
+ "subdivision of organism along appendicular axis phenotype",
+ "cyclic amide",
+ "shape of continuant phenotype",
+ "paired limb/fin segment",
+ "bodily fluid",
+ "polyatomic entity",
+ "main group molecular entity",
+ "increased level of nitrogen molecular entity in blood",
+ "blood plasma",
+ "increased level of creatinine in blood",
+ "creatinine",
+ "Abnormal circulating nitrogen compound concentration",
+ "carbon group molecular entity",
+ "increased blood serum role level",
+ "protein polypeptide chain",
+ "continuant",
+ "organic heterocyclic compound",
"limb segment phenotype",
- "absent ectoderm-derived structure",
- "forelimb zeugopod phenotype",
- "vestibulo-auditory system phenotype",
- "gland physiology phenotype",
- "bone of pectoral complex",
- "forelimb zeugopod skeleton",
- "secretion by cell",
- "forelimb",
- "aplasia or hypoplasia of radius bone",
- "artery phenotype",
- "Abnormal metencephalon morphology",
- "paired limb/fin segment phenotype",
- "lamina",
"compound organ",
- "cervical vertebra",
- "cerebral hemisphere gray matter",
- "forebrain phenotype",
- "absent material anatomical entity in the brain ventricle/choroid plexus",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "biological regulation",
- "mesoderm-derived structure physiology phenotype",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "Upper limb undergrowth",
- "duodenum morphology phenotype",
+ "phosphorus oxoacids and derivatives",
+ "quality",
+ "phosphoric acid derivative",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of limbs",
+ "phosphorus molecular entity",
+ "paired limb/fin phenotype",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "oxoacid derivative",
+ "renal system physiology phenotype",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "leg phenotype",
+ "renal system",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "Decreased anatomical entity mass density",
+ "endochondral element phenotype",
+ "anatomical entity mass density phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "heterocyclic compound",
+ "skeletal system",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal morphology",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "organ",
+ "curved long bone",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "Rickets",
+ "multicellular organismal process",
+ "organ part",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "multicellular anatomical structure phenotype",
+ "skeletal element",
+ "zeugopod",
+ "musculature of body",
+ "skeletal element phenotype",
+ "lower limb segment",
+ "trunk region element phenotype",
+ "limb segment, curved phenotype",
+ "diazolidine",
+ "Reduced bone mineral density",
+ "skeletal system morphology phenotype",
+ "abdominal segment of trunk",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "blood nitrogen molecular entity level phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "limb endochondral element",
+ "lateral structure physiology phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "paired limb/fin",
+ "skeletal system phenotype",
+ "curved anatomical entity",
+ "lateral structure",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "increased level of protein polypeptide chain in urine",
"limb segment",
- "absent brain commissure",
- "decreased number of leukocyte",
- "tissue",
- "disconnected anatomical group",
- "endocrine gland morphology phenotype",
- "signaling",
- "subdivision of skeletal system",
- "gland phenotype",
- "Abnormal limb bone morphology",
- "absent bone of appendage girdle complex",
- "forelimb phenotype",
- "taxon specific phenotype",
- "Triangular face",
- "cerebral hemisphere white matter",
- "Abnormal cellular immune system morphology",
- "ear",
- "arm bone",
- "incomplete closing of the interatrial septum",
- "anatomical entity morphology in the brain phenotype",
- "autopodial extension phenotype",
- "interatrial septum perforation",
- "simple eye phenotype",
- "blood cell phenotype",
- "absent radius endochondral element in the forelimb",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "metencephalon morphology phenotype",
- "cardiac chamber phenotype",
- "photoreceptor array phenotype",
- "decreased length of limb endochondral element",
- "sensory perception of sound",
- "intestine morphology phenotype",
- "cardiac atrium phenotype",
- "cranial nerve II phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "mesoderm-derived structure",
- "Absent forearm bone",
- "anatomical system",
- "anatomical structure morphology in the heart phenotype",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
+ "zone of long bone",
+ "pelvic appendage",
+ "Abnormality of the lower limb",
+ "heteroatomic molecular entity",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Organic aciduria",
+ "Abnormal diaphysis morphology",
+ "organ, curved phenotype",
+ "musculoskeletal system",
+ "skeletal element, curved phenotype",
+ "curvature anatomical entity",
+ "All",
+ "anatomical collection",
+ "Growth delay",
+ "diaphysis",
+ "skeleton of limb",
+ "limb bone",
+ "Abnormal long bone morphology",
+ "hindlimb zeugopod",
+ "zeugopod phenotype",
+ "bone element, curved phenotype",
+ "multi-limb segment region",
+ "appendage phenotype",
+ "hindlimb zeugopod morphology phenotype",
+ "cyclic compound",
+ "multi-limb segment region phenotype",
+ "chemical entity level phenotype",
+ "amide",
+ "Abnormality of limb bone",
+ "Proteinuria",
+ "protein-containing material entity",
+ "material anatomical entity, curved phenotype",
+ "pelvic complex",
+ "excretory system",
+ "long bone morphology phenotype",
+ "organ phenotype",
+ "lower limb segment phenotype",
+ "decreased size of the anatomical entity",
+ "blood",
+ "paired limb/fin segment, curved phenotype",
+ "primary amide",
+ "limb bone morphology phenotype",
+ "system",
+ "appendicular skeletal system",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ ],
+ "has_phenotype_count": 11,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0013247",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 2",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.",
+ "xref": ["DOID:0080758", "GARD:15655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "FRTS2",
+ "Fanconi renotubular syndrome 2",
+ "Fanconi renotubular syndrome type 2",
+ "Fanconi syndrome caused by mutation in SLC34A1",
+ "SLC34A1 Fanconi syndrome",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0000117",
+ "HP:0002148",
+ "HP:0000114",
+ "HP:0002757",
+ "HP:0002748",
+ "HP:0000938",
+ "HP:0002909",
+ "HP:0031415",
+ "HP:0000093",
+ "HP:0003076",
+ "HP:0003165",
+ "HP:0004322",
+ "HP:0002653",
+ "HP:0012213",
+ "HP:0002150",
+ "HP:0000083",
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Renal phosphate wasting",
+ "Hypophosphatemia",
+ "Proximal tubulopathy",
+ "Recurrent fractures",
+ "Rickets",
+ "Osteopenia",
+ "Generalized aminoaciduria",
+ "High serum calcitriol",
+ "Proteinuria",
+ "Glycosuria",
+ "Elevated circulating parathyroid hormone level",
+ "Short stature",
+ "Bone pain",
+ "Decreased glomerular filtration rate",
+ "Hypercalciuria",
+ "Renal insufficiency",
+ ],
+ "has_phenotype_closure": [
+ "HP:0002150",
+ "HP:0011280",
+ "UPHENO:0046344",
+ "CHEBI:33559",
+ "UPHENO:0068134",
+ "HP:0025142",
+ "HP:0012531",
+ "UPHENO:0075195",
+ "UPHENO:0069327",
+ "GO:0040007",
+ "HP:0001510",
+ "UPHENO:0081424",
+ "UPHENO:0069254",
+ "UPHENO:0002949",
+ "UPHENO:0069266",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UPHENO:0075159",
+ "HP:0000818",
+ "UPHENO:0068068",
+ "UPHENO:0051648",
+ "HP:0002152",
+ "UPHENO:0068971",
+ "CHEBI:33695",
+ "PR:000064867",
+ "UBERON:0000949",
+ "HP:0004360",
+ "UPHENO:0068442",
+ "UPHENO:0051612",
+ "UPHENO:0082943",
+ "HP:0430071",
+ "UPHENO:0068472",
+ "PR:000018263",
+ "CHEBI:33694",
+ "UPHENO:0068477",
+ "UBERON:0001969",
+ "HP:0012337",
+ "UBERON:0034923",
+ "HP:0100530",
+ "UBERON:0015204",
+ "UPHENO:0082536",
+ "HP:0001948",
+ "CHEBI:33917",
+ "HP:6000531",
+ "UPHENO:0068054",
+ "HP:0010876",
+ "CHEBI:35381",
+ "UPHENO:0080658",
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+ "CHEBI:35341",
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+ "GO:0044238",
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+ "HP:0011842",
+ "HP:0033127",
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+ "CHEBI:22313",
+ "CHEBI:51958",
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+ "CHEBI:36963",
+ "GO:0042592",
+ "UBERON:0000489",
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+ "CHEBI:33250",
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+ "HP:0012212",
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+ "HP:0100511",
+ "UPHENO:0001002",
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+ "CHEBI:33839",
+ "CHEBI:26079",
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+ "HP:0002749",
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+ "UPHENO:0082835",
+ "GO:0044281",
+ "UBERON:0001088",
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+ "UBERON:0007684",
+ "UBERON:0009773",
+ "UPHENO:0052038",
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+ "UBERON:0005172",
+ "UPHENO:0002909",
+ "CHEBI:16646",
+ "HP:0000124",
+ "UBERON:0000483",
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+ "CHEBI:47042",
+ "UBERON:0005173",
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+ "UBERON:0005177",
+ "UPHENO:0002210",
+ "HP:0012211",
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+ "UBERON:0015212",
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+ "UPHENO:0002311",
+ "UPHENO:0002308",
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+ "UBERON:0011676",
+ "UBERON:0009569",
+ "CHEBI:24651",
+ "HP:0003117",
+ "UBERON:0002390",
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+ "UPHENO:0066943",
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+ "CHEBI:18133",
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+ "CHEBI:36587",
+ "UBERON:0000916",
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+ "UBERON:0000475",
+ "HP:0003165",
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+ "UBERON:0001285",
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+ "CHEBI:51143",
+ "UBERON:0002204",
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+ "HP:0032245",
+ "HP:0002757",
+ "UPHENO:0002385",
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+ "HP:0011843",
+ "UPHENO:0002832",
+ "UPHENO:0002803",
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+ "HP:0000938",
+ "HP:0012072",
+ "UPHENO:0046281",
+ "CHEBI:25806",
+ "CHEBI:33521",
+ "UPHENO:0082541",
+ "CHEBI:36586",
+ "CHEBI:35605",
+ "CHEBI:33709",
+ "CHEBI:33285",
+ "CHEBI:25367",
+ "UPHENO:0002267",
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+ "CHEBI:64709",
+ "CHEBI:33608",
+ "UPHENO:0046286",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "CHEBI:33575",
+ "CHEBI:50047",
+ "HP:0031980",
+ "HP:0000002",
+ "HP:0002157",
+ "UPHENO:0066921",
+ "HP:0033354",
+ "UPHENO:0049723",
+ "UPHENO:0046383",
+ "CHEBI:22984",
+ "CHEBI:26020",
+ "UBERON:0000463",
+ "HP:0040156",
+ "UPHENO:0081423",
+ "UBERON:0015203",
+ "UPHENO:0002642",
+ "HP:0002909",
+ "UPHENO:0068144",
+ "CHEBI:33674",
+ "UBERON:0001008",
+ "CHEBI:24833",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "HP:0003355",
+ ],
+ "has_phenotype_closure_label": [
+ "Renal insufficiency",
+ "alkaline earth metal atom",
+ "Abnormality of urine calcium concentration",
+ "increased level of calcium atom in urine",
+ "calcium atom level phenotype",
+ "metal atom",
+ "Hypercalciuria",
+ "s-block element atom",
+ "Abnormal glomerular filtration rate",
+ "Pain",
+ "atom",
+ "anatomical entity height phenotype",
+ "multicellular organism height phenotype",
"decreased size of the anatomical structure",
- "circulatory system phenotype",
- "decreased size of the autopod bone",
- "musculature phenotype",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Short long bone",
- "camera-type eye morphology phenotype",
- "Patent foramen ovale",
- "fused cervical vertebra and cervical vertebra",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the anatomical structure in the pectoral complex",
- "decreased size of the arm bone",
+ "growth",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "protein",
+ "Elevated circulating parathyroid hormone level",
+ "Abnormality of the endocrine system",
+ "blood nitrogen molecular entity level phenotype",
+ "Abnormality of acid-base homeostasis",
+ "increased level of protein",
+ "Abnormal circulating organic amino compound concentration",
+ "blood organic amino compound level phenotype",
+ "increased level of chemical entity in blood serum",
+ "protein level phenotype",
+ "increased level of protein in blood",
+ "Alkalosis",
+ "Azotemia",
+ "parathyroid hormone",
+ "Hyperproteinemia",
+ "Acute phase response",
+ "Abnormal circulating nitrogen compound concentration",
+ "non-connected functional system",
+ "Short stature",
"endocrine system",
- "systemic artery morphology phenotype",
- "Abnormal granulocyte morphology",
- "material anatomical entity atresia",
- "material entity",
- "leukocyte",
- "decreased functionality of the endoderm-derived structure",
- "endoderm-derived structure atresia",
- "external acoustic meatus",
- "subdivision of trunk phenotype",
- "retina",
- "decreased length of bone of appendage girdle complex",
- "decreased size of the bone of free limb or fin",
- "absent forelimb long bone in the forelimb",
- "regional part of nervous system phenotype",
+ "blood serum",
+ "disconnected anatomical group",
+ "blood plasma",
+ "increased level of nitrogen molecular entity in blood",
+ "blood protein polypeptide chain level phenotype",
+ "endocrine system phenotype",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "macromolecule",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "vitamin D metabolic process",
+ "small molecule metabolic process",
+ "glandular system",
+ "primary metabolic process",
+ "increased level of lipid in blood",
+ "blood plasma chemical entity level phenotype",
+ "role bodily fluid level phenotype",
+ "main group element atom",
+ "hormone blood level phenotype",
+ "increased level of chemical entity in blood",
+ "decreased height of the multicellular organism",
+ "organic hydroxy compound metabolic process phenotype",
+ "primary metabolic process phenotype",
+ "small molecule metabolic process phenotype",
+ "blood organic molecular entity level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organic hydroxy compound",
+ "polycyclic compound",
+ "increased blood role level",
+ "calcitriol",
+ "vitamin D",
+ "polyol",
+ "steroid metabolic process phenotype",
+ "steroid metabolic process",
+ "increased level of calcitriol in blood",
+ "growth phenotype",
+ "blood lipid level phenotype",
+ "vitamin metabolic process",
+ "increased level of lipid",
+ "organic hydroxy compound metabolic process",
+ "lipid metabolic process",
+ "triol",
+ "cyclic compound",
+ "steroid",
+ "lipid level phenotype",
+ "Abnormality of vitamin metabolism",
+ "organism substance",
+ "decreased level of chemical entity in blood",
+ "blood monoatomic ion level phenotype",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "primary amide",
+ "elemental molecular entity",
+ "blood chemical entity level phenotype",
+ "hydroxy seco-steroid",
+ "hematopoietic system phenotype",
+ "monoatomic entity",
"subdivision of trunk",
- "increased biological_process",
- "decreased size of the bone of appendage girdle complex",
- "face morphology phenotype",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "Anemia",
- "absent multicellular anatomical structure in the forelimb",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
- "main body axis",
- "musculature",
- "Abnormal facial shape",
- "viscus",
- "external ear",
- "circulatory organ phenotype",
- "decreased size of the endochondral bone",
- "musculature of body phenotype",
- "anatomical conduit phenotype",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "cerebellum",
- "manual digit metacarpus endochondral element",
- "excretory system",
- "cardiac chamber",
- "number of anatomical enitites of type neutrophil phenotype",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "decreased length of skeletal element",
- "decreased vibrational conductance of sound to the inner ear",
- "pelvic region element phenotype",
- "camera-type eye physiology phenotype",
- "subdivision of organism along main body axis",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of tube atresia",
- "structure with developmental contribution from neural crest phenotype",
- "decreased length of anatomical structure",
- "absent forelimb bone in the limb",
- "cerebral hemisphere white matter morphology phenotype",
- "viscus phenotype",
- "Abnormality of the outer ear",
- "orbital region phenotype",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "metapodial skeleton",
- "musculoskeletal system physiology phenotype",
- "anatomical entity perforation",
- "decreased qualitatively embryo development",
- "closing of the material anatomical entity",
- "Abnormality of globe size",
- "absent anatomical structure in the skeletal system",
- "decreased size of the forelimb endochondral element",
- "decreased size of the gland",
- "signal release",
+ "decreased functionality of the nephron tubule",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "heteroatomic molecular entity",
+ "excretory system",
+ "vitamin metabolic process phenotype",
+ "abdomen element phenotype",
+ "organic cyclic compound metabolic process",
+ "ion",
+ "biomacromolecule",
+ "p-block molecular entity",
+ "renal system physiology phenotype",
+ "pnictogen molecular entity",
+ "role blood serum level phenotype",
+ "trunk",
+ "chemical entity",
+ "amide",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "Abnormal urine amino acid level",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "Abnormality of the skeletal system",
+ "amino acid level phenotype",
+ "hydroxycalciol",
+ "Abnormality of the urinary system physiology",
+ "renal system phenotype",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "organic molecule",
+ "trunk region element physiology phenotype",
+ "homeostatic process phenotype",
+ "main group molecular entity",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "polyatomic entity",
+ "decreased size of the anatomical entity",
+ "blood",
+ "mesoderm-derived structure",
+ "Abnormal urinary electrolyte concentration",
+ "phosphate level phenotype",
+ "Alkalemia",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate",
+ "lipid metabolic process phenotype",
+ "bone element mass density phenotype",
+ "amino acid",
+ "molecule",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "skeletal system phenotype",
+ "protein polypeptide chain",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "Increased susceptibility to fractures",
+ "skeletal element",
+ "cavitated compound organ",
"anatomical structure",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "absent bone element in the limb",
- "digitopodium region",
- "nitrogen compound transport phenotype",
+ "Decreased glomerular filtration rate",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "musculoskeletal system phenotype",
+ "increased level of organic acid in urine",
+ "musculature of body",
+ "organic cyclic compound",
+ "Abnormal bone structure",
+ "blood serum chemical entity level phenotype",
+ "anatomical system",
+ "lipid",
+ "material anatomical entity",
+ "Abnormal circulating protein concentration",
+ "increased level of parathyroid hormone in blood serum",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormality of the musculoskeletal system",
+ "renal/urinary system phenotype",
"anatomical entity",
- "interatrial septum",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "phosphoric acid derivative",
+ "quality",
+ "carbon oxoacid",
+ "Reduced bone mineral density",
+ "increased level of parathyroid hormone in blood",
+ "hydroxy steroid",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "epithelial tube physiology phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "hematopoietic system",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "protein-containing molecular entity",
+ "increased level of vitamin D",
+ "tissue phenotype",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "urine calcium atom level phenotype",
+ "process",
+ "size of anatomical entity phenotype",
"phenotypic effect",
- "Vertebral fusion",
- "number of myeloid cell phenotype",
- "postcranial axial skeleton phenotype",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "number of anatomical enitites of type bone element phenotype",
- "export from cell phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "number of anatomical enitites of type brain commissure phenotype",
- "pectoral appendage",
- "bone element",
- "camera-type eye",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "Abnormal ear physiology",
- "Limb undergrowth",
- "decreased number of neutrophil",
- "biological_process rate phenotype",
- "fused anatomical entity and bony vertebral centrum",
+ "organ physiology phenotype",
+ "main body axis",
+ "Abnormality of blood and blood-forming tissues",
+ "molecular entity",
+ "anatomical conduit phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "carboxamide",
+ "Generalized aminoaciduria",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Osteopenia",
+ "Renal phosphate wasting",
+ "kidney physiology phenotype",
+ "increased blood serum base level",
+ "multicellular organismal process",
+ "organ part",
+ "multicellular anatomical structure",
"specifically dependent continuant",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "absent forelimb endochondral element",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "size of eyeball of camera-type eye phenotype",
- "thoracic segment organ",
- "Abnormal digit morphology",
+ "organ",
+ "occurrent",
+ "haemolymphatic fluid",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "carbohydrate",
+ "increased bodily fluid role level",
+ "biological_process",
+ "renal tubule",
+ "material entity",
+ "organic amino compound",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "renal system",
+ "kidney epithelium phenotype",
"phenotype",
- "decreased length of bone element",
- "trunk phenotype",
- "absent endochondral element in the forelimb",
+ "anatomical entity mass density phenotype",
+ "Recurrent fractures",
+ "carbonyl compound",
+ "musculoskeletal system",
+ "fat-soluble vitamin metabolic process",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "organ system subdivision",
+ "Aminoaciduria",
+ "Abnormality of vitamin D metabolism",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "Abnormal circulating calcium-phosphate regulating hormone concentration",
+ "vitamin D metabolic process phenotype",
+ "seco-steroid",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "Abnormal circulating metabolite concentration",
+ "organic acid",
+ "ossification",
+ "calcium atom",
+ "increased blood serum role level",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "information biomacromolecule",
+ "blood parathyroid hormone level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "role blood level phenotype",
+ "lateral structure phenotype",
"decreased functionality of the anatomical entity",
- "Abnormal growth hormone level",
- "absent mesoderm-derived structure in the limb",
- "incomplete closing of the artery",
- "Reduced circulating growth hormone concentration",
- "primary circulatory organ phenotype",
- "anatomical entity morphology in the heart phenotype",
- "ear physiology phenotype",
- "Abnormality of the gastrointestinal tract",
- "Abnormal atrial septum morphology",
- "Ventricular septal defect",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "eyeball of camera-type eye phenotype",
+ "Abnormal metabolism",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
+ "lateral structure",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "blood oxygen molecular entity level phenotype",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "organic molecular entity",
+ "epithelium",
+ "decreased functionality of the tube",
+ "Bone pain",
+ "Abnormality of the upper urinary tract",
+ "tube phenotype",
+ "increased bodily fluid base level",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "decreased size of the material anatomical entity",
+ "biological_process phenotype",
+ "abdominal segment element phenotype",
+ "Constitutional symptom",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "Abnormal circulating hormone concentration",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal skeletal morphology",
+ "musculoskeletal system physiology phenotype",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "epithelial tube",
+ "tube",
+ "abdominal segment of trunk",
+ "urine amino acid level phenotype",
+ "abdomen",
+ "decreased level of chemical entity",
+ "Abnormal urine carboxylic acid level",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
+ "excretory tube",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "Abnormal musculoskeletal physiology",
+ "anatomical entity dysfunction in independent continuant",
+ "Proximal tubulopathy",
+ "organism subdivision",
+ "D3 vitamins",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "upper urinary tract phenotype",
+ "excretory tube phenotype",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "kidney",
+ "hemolymphoid system",
+ "Rickets",
+ "role urine level phenotype",
+ "carboxylic acid",
+ "decreased functionality of the epithelial tube",
+ "bone element phenotype",
+ "Abnormal urine pH",
+ "organic substance metabolic process",
+ "High serum calcitriol",
+ "increased level of chemical entity",
+ "increased urine role level",
+ "hydroxides",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "heteroorganic entity",
+ "organooxygen compound",
+ "Abnormal urine phosphate concentration",
+ "increased level of carboxylic acid in urine",
+ "excreta",
+ "organic oxo compound",
+ "multicellular organism morphology phenotype",
+ "Abnormal urine metabolite level",
+ "nitrogen molecular entity",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "carbon group molecular entity",
+ "organic polycyclic compound",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "Organic aciduria",
+ "Elevated urinary carboxylic acid",
+ "metabolic process phenotype",
+ "compound organ phenotype",
+ "increased level of amino acid in urine",
+ "increased level of chemical entity in urine",
+ "vitamin D level phenotype",
+ "increased level of chemical entity in bodily fluid",
+ "increased level of chemical entity in blood plasma",
+ "s-block molecular entity",
+ ],
+ "has_phenotype_count": 17,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0024525",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 1",
+ "full_name": None,
+ "deprecated": None,
+ "description": None,
+ "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0001942",
+ "HP:0003648",
+ "HP:0003155",
+ "HP:0002148",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0002900",
+ "HP:0002748",
+ "HP:0034359",
+ "HP:0003076",
+ "HP:0000083",
+ "HP:0003355",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Metabolic acidosis",
+ "Lacticaciduria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Hypokalemia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0002359",
+ "HP:0003011",
+ "UPHENO:0080555",
+ "HP:0001324",
+ "HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:37622",
+ "UPHENO:0068565",
+ "CHEBI:16670",
+ "CHEBI:15841",
+ "UPHENO:0075195",
+ "UPHENO:0069327",
+ "GO:0040007",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0069254",
+ "UPHENO:0002949",
+ "UPHENO:0069266",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UPHENO:0075159",
+ "HP:0003355",
+ "CHEBI:33674",
+ "UPHENO:0046286",
+ "UPHENO:0068144",
+ "UPHENO:0068169",
+ "HP:0031980",
+ "CHEBI:33575",
+ "CHEBI:33709",
+ "CHEBI:33608",
+ "CHEBI:24651",
+ "CHEBI:72695",
+ "CHEBI:35605",
+ "HP:0025745",
+ "CHEBI:18133",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "UPHENO:0068054",
+ "CHEBI:35381",
+ "UPHENO:0080658",
+ "UPHENO:0000543",
+ "HP:0003076",
+ "CHEBI:36963",
+ "HP:0034359",
+ "UPHENO:0051191",
+ "GO:0003014",
+ "CHEBI:33917",
+ "HP:0011038",
+ "HP:0011036",
+ "UPHENO:0050106",
+ "UPHENO:0049703",
+ "UPHENO:0051280",
+ "GO:0003008",
+ "CHEBI:25367",
+ "HP:0011042",
+ "UPHENO:0089770",
+ "UPHENO:0089756",
+ "CHEBI:60242",
+ "CHEBI:36586",
+ "CHEBI:33521",
+ "CHEBI:24835",
+ "UPHENO:0034253",
+ "UBERON:0005090",
+ "UBERON:0000468",
+ "UBERON:0002417",
+ "CHEBI:22314",
+ "HP:0004379",
+ "HP:0000079",
+ "CHEBI:50860",
+ "UPHENO:0068971",
+ "CHEBI:33695",
+ "GO:0001503",
+ "CHEBI:36357",
+ "PR:000018263",
+ "HP:0012379",
+ "BFO:0000020",
+ "UPHENO:0068491",
+ "CHEBI:36360",
+ "UPHENO:0066964",
+ "CHEBI:50047",
+ "HP:0012337",
+ "CHEBI:33675",
+ "UPHENO:0003047",
+ "CHEBI:33694",
+ "CHEBI:23367",
+ "PR:000064867",
+ "UBERON:0009773",
+ "HP:6000531",
+ "UPHENO:0068352",
+ "CHEBI:35352",
+ "UPHENO:0002963",
+ "HP:0100529",
+ "UBERON:0006555",
+ "BFO:0000004",
+ "UPHENO:0080352",
+ "UBERON:0000179",
+ "CHEBI:33302",
+ "UPHENO:0002269",
+ "UBERON:8450002",
+ "CHEBI:60911",
+ "CHEBI:32988",
+ "UPHENO:0081581",
+ "HP:0000001",
+ "GO:0070293",
+ "UBERON:0004111",
+ "UPHENO:0046383",
+ "HP:0032943",
+ "UPHENO:0002442",
+ "PATO:0000001",
+ "UPHENO:0002731",
+ "UPHENO:0002426",
+ "UPHENO:0046284",
+ "UPHENO:0081423",
+ "UPHENO:0002642",
+ "UPHENO:0075666",
+ "UPHENO:0002411",
+ "UPHENO:3000004",
+ "UPHENO:0002427",
+ "HP:0000119",
+ "UPHENO:0002964",
+ "UBERON:0001088",
+ "HP:0012072",
+ "CHEBI:36587",
+ "UPHENO:0089294",
+ "UBERON:0004120",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0002385",
+ "UPHENO:0049587",
+ "HP:0004360",
+ "CHEBI:51143",
+ "UPHENO:0002346",
+ "HP:0001942",
+ "UPHENO:0068511",
+ "BFO:0000002",
+ "UPHENO:0002559",
+ "UPHENO:0049904",
+ "UBERON:0001434",
+ "UPHENO:0081777",
+ "UPHENO:0002636",
+ "UPHENO:0002525",
+ "UPHENO:0002870",
+ "CHEBI:33285",
+ "UPHENO:0001003",
+ "UPHENO:0080556",
+ "HP:0003155",
+ "HP:0002900",
+ "UPHENO:0076703",
+ "UPHENO:0066939",
+ "UBERON:0002204",
+ "UPHENO:0002526",
+ "UPHENO:0068110",
+ "UBERON:0003103",
+ "UBERON:0001231",
+ "UPHENO:0002320",
+ "UPHENO:0084653",
+ "CHEBI:36080",
+ "UBERON:0006314",
+ "HP:0000118",
+ "UBERON:0000178",
+ "HP:0004349",
+ "UPHENO:0082834",
+ "UPHENO:0003022",
+ "BFO:0000040",
+ "UBERON:0000174",
+ "HP:0000924",
+ "UPHENO:0034199",
+ "PR:000000001",
+ "UPHENO:0002976",
+ "UPHENO:0066954",
+ "HP:0003330",
+ "UPHENO:0001001",
+ "UPHENO:0084654",
+ "UPHENO:0034351",
+ "UPHENO:0002252",
+ "UBERON:0011216",
+ "UBERON:0001062",
+ "UBERON:0000062",
+ "HP:0011842",
+ "UBERON:0001630",
+ "HP:0033127",
+ "CHEBI:33579",
+ "HP:0003110",
+ "CHEBI:36359",
+ "UPHENO:0048707",
+ "UPHENO:0004791",
+ "HP:0011849",
+ "UPHENO:0051763",
+ "GO:0008150",
+ "UPHENO:0066960",
+ "UPHENO:0005285",
+ "UPHENO:0002530",
+ "UBERON:0001015",
+ "UPHENO:0003088",
+ "BFO:0000015",
+ "BFO:0000003",
+ "CHEBI:59999",
+ "PR:000050567",
+ "CHEBI:60004",
+ "UPHENO:0002536",
+ "UPHENO:0076692",
+ "GO:0042592",
+ "CHEBI:33582",
+ "UBERON:0000465",
+ "UBERON:0000489",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "CHEBI:15693",
+ "UPHENO:0081544",
+ "HP:0020129",
+ "UPHENO:0046348",
+ "UPHENO:0066927",
+ "UPHENO:0051635",
+ "UBERON:0000383",
+ "HP:0011804",
+ "HP:0000083",
+ "GO:0032501",
+ "UBERON:0004211",
+ "UPHENO:0001002",
+ "CHEBI:24833",
+ "UBERON:0001008",
+ "CHEBI:33839",
+ "CHEBI:26079",
+ "HP:0002749",
+ "UPHENO:0002668",
+ "UPHENO:0082835",
+ "CHEBI:64709",
+ "UPHENO:0002267",
+ "UBERON:0003914",
+ "HP:0002148",
+ "HP:0032180",
+ "CHEBI:33318",
+ "CHEBI:24431",
+ "HP:0003111",
+ "CHEBI:33241",
+ "BFO:0000001",
+ "UPHENO:0002554",
+ "UBERON:0002193",
+ "UPHENO:0002422",
+ "HP:0040156",
+ "UBERON:0000463",
+ "CHEBI:26020",
+ "HP:0001871",
+ "UPHENO:0004459",
+ "UPHENO:0080351",
+ "UPHENO:0076286",
+ "HP:0003648",
+ "HP:0001941",
+ "UPHENO:0051804",
+ "UPHENO:0051960",
+ "UPHENO:0066739",
+ "UPHENO:0075902",
+ "HP:0001507",
+ "CHEBI:37577",
+ "HP:0001510",
+ "HP:0003109",
+ "HP:0034684",
+ "CHEBI:24867",
+ "CHEBI:33256",
+ "UBERON:0000025",
+ "UPHENO:0051739",
+ "UPHENO:0051900",
+ "CHEBI:33238",
+ "CHEBI:33259",
+ "HP:0011277",
+ "UPHENO:0046283",
+ "UBERON:0000064",
+ "CHEBI:26082",
+ "UPHENO:0002287",
+ "UBERON:0004122",
+ "HP:0010935",
+ "UPHENO:0002246",
+ "UPHENO:0005141",
+ "UPHENO:0002859",
+ "CHEBI:78616",
+ "HP:0000077",
+ "UPHENO:0002564",
+ "UBERON:0007684",
+ "UPHENO:0066951",
+ "UBERON:0005172",
+ "UPHENO:0002909",
+ "CHEBI:16646",
+ "HP:0000124",
+ "UBERON:0000483",
+ "UBERON:0005173",
+ "UPHENO:0066950",
+ "UPHENO:0066903",
+ "UBERON:0005177",
+ "UPHENO:0002210",
+ "HP:0003126",
+ "HP:0002748",
+ "UPHENO:0002832",
+ "UPHENO:0002803",
+ "CHEBI:33304",
+ "UBERON:0013702",
+ "HP:0010930",
+ "HP:0012211",
+ "UBERON:0015212",
+ "HP:0004348",
+ "UPHENO:0002311",
+ "UPHENO:0002308",
+ "UPHENO:0003093",
+ "UBERON:0011676",
+ "UBERON:0009569",
+ "HP:0000002",
+ "HP:0033354",
+ "UPHENO:0066921",
+ "HP:0001992",
+ "UPHENO:0051709",
+ "UBERON:0010000",
+ "UBERON:0002390",
+ "UPHENO:0066943",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "CHEBI:26216",
+ "UPHENO:0082875",
+ "CHEBI:28358",
+ "UBERON:0002100",
+ "UBERON:0001474",
+ "UPHENO:0003430",
+ "UPHENO:0002360",
+ "UPHENO:0024906",
+ "CHEBI:17234",
+ "UPHENO:0066946",
+ "CHEBI:24870",
+ "UPHENO:0003941",
+ "UPHENO:0002377",
+ "UPHENO:0002754",
+ "UBERON:0004819",
+ "UPHENO:0003094",
+ "HP:0012591",
+ "UPHENO:0066925",
+ "UPHENO:0002816",
+ "UBERON:0011143",
+ "UPHENO:0002248",
+ "UBERON:0000916",
+ "UPHENO:0002386",
+ "PR:000003968",
+ "UBERON:0000479",
+ "UPHENO:0051686",
+ "CHEBI:36915",
+ "UPHENO:0066959",
+ "UPHENO:0066913",
+ "UBERON:0000475",
+ "UBERON:0013701",
+ "UBERON:0001285",
+ "HP:0012599",
+ "UPHENO:0005201",
+ "HP:0010929",
+ "UPHENO:0081547",
+ "UBERON:0002113",
+ "CHEBI:33250",
+ "CHEBI:33559",
+ "UPHENO:0051645",
+ "CHEBI:36914",
+ "UPHENO:0079822",
+ "UBERON:0000061",
+ "CHEBI:36916",
+ ],
+ "has_phenotype_closure_label": [
+ "decreased muscle organ strength",
+ "muscle structure physiology phenotype",
+ "muscle structure phenotype",
+ "Abnormality of the musculature",
+ "muscle organ physiology phenotype",
+ "muscle organ",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "growth",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
"multicellular organism phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "number of cell phenotype",
- "Atrial septal defect",
- "radius endochondral element",
- "septum phenotype",
- "appendicular skeletal system",
- "decreased number of anatomical entity",
- "reproductive structure",
- "Abnormal heart morphology",
- "sense organ phenotype",
- "decreased size of the bone of pectoral complex",
- "organ system subdivision",
- "postcranial axial skeleton",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "multicellular anatomical structure phenotype",
- "head",
- "Abnormal cardiovascular system morphology",
- "shape kidney",
- "decreased size of the limb long bone",
- "cardiac septum phenotype",
- "multi organ part structure phenotype",
- "skeletal element",
- "decreased size of the material anatomical entity in the pectoral complex",
- "Abnormal diencephalon morphology",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "subdivision of head",
- "Abnormality of body weight",
- "developmental process rate phenotype",
- "hormone transport",
- "septum",
- "forelimb long bone phenotype",
- "Abnormal cardiac septum morphology",
- "eye phenotype",
- "organ",
- "regulation of biological quality phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "Duodenal atresia",
- "absent nervous system commissure",
- "digestive system element phenotype",
- "organ part phenotype",
- "absent endochondral element in the limb",
- "segment of manus",
- "Abnormality of thumb phalanx",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Renal insufficiency",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "organooxygen compound",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal absorption",
+ "renal absorption phenotype",
+ "Abnormality of renal excretion",
+ "renal system process",
+ "cation",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "carbon oxoacid",
+ "Abnormal blood potassium concentration",
+ "role bodily fluid level phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "potassium atom level phenotype",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "protein",
+ "macromolecule",
+ "organic molecular entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "heteroatomic molecular entity",
+ "tube phenotype",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
"body proper",
- "anatomical entity phenotype",
- "Abnormality of the ureter",
- "organism subdivision phenotype",
- "heart plus pericardium",
- "Abnormal cardiac atrium morphology",
- "Abnormal cellular phenotype",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "Abnormal localization of kidney",
- "arm bone phenotype",
- "head phenotype",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "fused vertebra and anatomical entity",
- "metapodium region",
- "anatomical collection",
- "subdivision of skeletal system phenotype",
- "Abnormality of the bladder",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "continuant",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "compound organ phenotype",
- "organ phenotype",
- "decreased length of forelimb zeugopod bone",
- "heart morphology phenotype",
- "segmental subdivision of nervous system",
- "programmed DNA elimination by chromosome breakage",
- "thoracic cavity element phenotype",
- "craniofacial/craniocervical phenotype",
- "heart",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
"anatomical system phenotype",
- "Eukaryota",
- "Abnormality of the digestive system",
- "decreased functionality of the gland",
- "forelimb skeleton phenotype",
- "Abnormality of the thyroid gland",
- "decreased size of the multicellular anatomical structure",
- "structure with developmental contribution from neural crest physiology phenotype",
- "increased pigmentation",
- "Abnormal cell morphology",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "nervous system process phenotype",
- "neck phenotype",
- "opening of the anatomical entity",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "incomplete closing of the cardiac septum",
- "neuron projection bundle phenotype",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "developmental process phenotype",
+ "musculature phenotype",
+ "organic amino compound",
+ "material entity",
+ "Abnormality of alkaline phosphatase level",
+ "excretory system",
+ "abdomen element phenotype",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "polyatomic entity",
+ "racemate",
+ "renal system physiology phenotype",
+ "rac-lactic acid",
+ "amide",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "chemical substance",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "renal system phenotype",
+ "metal atom",
+ "Abnormality of the urinary system physiology",
+ "increased level of chemical entity in urine",
+ "increased urine role level",
+ "decreased anatomical entity strength",
+ "mixture",
+ "epithelial tube",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "chemical entity",
+ "Short stature",
+ "inorganic molecular entity",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "increased level of chemical entity",
+ "inorganic cation",
+ "alkali metal atom",
+ "bone element mass density phenotype",
+ "Abnormal blood cation concentration",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "Abnormal skeletal morphology",
+ "skeletal system phenotype",
+ "carbon group molecular entity",
+ "main group molecular entity",
+ "Elevated circulating alkaline phosphatase concentration",
+ "protein polypeptide chain",
+ "system process phenotype",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "skeletal element",
+ "cavitated compound organ",
+ "mesoderm-derived structure",
+ "Abnormal urinary electrolyte concentration",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "Abnormal muscle physiology",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "Abnormal enzyme concentration or activity",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
+ "Abnormality of the musculoskeletal system",
+ "musculature of body",
+ "Abnormal bone structure",
+ "anatomical system",
+ "role urine level phenotype",
+ "muscle structure",
+ "material anatomical entity",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "multicellular organismal process phenotype",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "main group element atom",
+ "Abnormal renal tubular resorption",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "Hypokalemia",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "Reduced bone mineral density",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "Abnormality of the skeletal system",
+ "Impaired renal tubular reabsorption of phosphate",
+ "hematopoietic system",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "protein-containing molecular entity",
+ "tissue phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "Abnormal circulating enzyme concentration or activity",
+ "organism subdivision",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "process",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "Lacticaciduria",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "decreased size of the anatomical entity",
+ "blood",
+ "heteroorganic entity",
+ "multicellular organismal process",
+ "Muscle weakness",
"organ part",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "Abnormality of the immune system",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "Aplasia/Hypoplasia affecting the fundus",
- "absent lamina",
- "regulation of cellular metabolic process",
- "blood cell",
- "septum of telencephalon",
- "cornea, curved phenotype",
- "orbital region",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "anatomical entity height phenotype",
+ "atom",
+ "carbohydrate",
+ "biological_process",
+ "renal tubule",
+ "nitrogen molecular entity",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
"musculoskeletal system",
- "decreased qualitatively sensory perception",
- "agenesis of anatomical entity",
- "circulatory organ",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "Abnormality of neutrophils",
- "trunk region element phenotype",
- "decreased number of hematopoietic cell",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "excretory tube phenotype",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "homeostatic process phenotype",
+ "trunk region element physiology phenotype",
+ "material anatomical entity physiology phenotype",
+ "urine phosphate level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "information biomacromolecule",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "organic acid",
+ "ossification",
+ "Abnormal circulating metabolite concentration",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "organ physiology phenotype",
+ "main body axis",
"organism substance",
- "decreased length of multicellular anatomical structure",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "digit",
- "Abnormal eye physiology",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "white matter of telencephalon phenotype",
- "trunk",
- "Hypothyroidism",
+ "Rickets",
+ "hemolymphoid system",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "decreased functionality of the epithelial tube",
+ "haemolymphatic fluid",
+ "phosphate",
+ "primary amide",
+ "elemental molecular entity",
+ "ion",
+ "increased level of rac-lactic acid in urine",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
"hematopoietic system phenotype",
- "metencephalon phenotype",
- "organ component layer phenotype",
- "skeletal system",
- "appendicular skeleton",
- "number of leukocyte phenotype",
- "decreased number of material anatomical entity",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "primary circulatory organ",
- "Growth abnormality",
- "Functional abnormality of the middle ear",
- "neutrophil",
- "cell phenotype",
- "ectoderm-derived structure physiology phenotype",
- "Conductive hearing impairment",
- "sensory system",
- "number of anatomical enitites of type granulocyte phenotype",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "system process phenotype",
+ "quality",
+ "phosphoric acid derivative",
+ "Abnormal urine carboxylic acid level",
+ "system process",
+ "decreased level of chemical entity",
+ "decreased level of chemical entity in blood",
+ "genitourinary system phenotype",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "trunk",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate level phenotype",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "monoatomic entity",
+ "subdivision of trunk",
+ "decreased functionality of the nephron tubule",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "kidney physiology phenotype",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
+ "lateral structure",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "epithelium",
+ "decreased functionality of the tube",
+ "Abnormality of the upper urinary tract",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "abdominal segment of trunk",
+ "abdomen",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
+ "excretory tube",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "renal system process phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "kidney",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "s-block element atom",
+ "musculature",
+ "decreased role blood level",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "role blood level phenotype",
+ "monovalent inorganic cation",
+ ],
+ "has_phenotype_count": 16,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0100238",
+ "category": "biolink:Disease",
+ "name": "inherited Fanconi renotubular syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "An instance of Fanconi renotubular syndrome that is inherited.",
+ "xref": ["OMIMPS:134600"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": ["hereditary Fanconi renotubular syndrome"],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "HP:0001994",
+ "category": "biolink:PhenotypicFeature",
+ "name": "Renal Fanconi syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": None,
+ "xref": None,
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"],
+ "uri": None,
+ "iri": None,
+ "namespace": "HP",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0011584",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group D1",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",
+ "xref": [
+ "DOID:0111089",
+ "GARD:17449",
+ "MEDGEN:325420",
+ "MESH:C563980",
+ "NCIT:C125705",
+ "OMIM:605724",
+ "Orphanet:319462",
+ "SCTID:766707003",
+ "UMLS:C1838457",
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "FAD1",
+ "FANCD1",
+ "Fad1",
+ "Fanconi anemia complementation group D1",
+ "Fanconi anemia, complementation group D1",
+ "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0000252",
+ "HP:0004808",
+ "HP:0009778",
+ "HP:0005528",
+ "HP:0001511",
+ "HP:0000957",
+ "HP:0003221",
+ "HP:0001508",
+ "HP:0004322",
+ "HP:0006727",
+ "HP:0002023",
+ ],
+ "has_phenotype_label": [
+ "Microcephaly",
+ "Acute myeloid leukemia",
+ "Short thumb",
+ "Bone marrow hypocellularity",
+ "Intrauterine growth retardation",
+ "Cafe-au-lait spot",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Failure to thrive",
+ "Short stature",
+ "T-cell acute lymphoblastic leukemias",
+ "Anal atresia",
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0086644",
+ "HP:0004378",
+ "HP:0002023",
+ "UPHENO:0063599",
+ "UPHENO:0074227",
+ "UBERON:0001245",
+ "UPHENO:0074229",
+ "UBERON:0000025",
+ "UBERON:0000161",
+ "UPHENO:0076803",
+ "HP:0025031",
+ "UPHENO:0002812",
+ "UPHENO:0074230",
+ "UPHENO:0074245",
+ "UPHENO:0074228",
+ "UPHENO:0002668",
+ "HP:0000002",
+ "UPHENO:0081424",
+ "UPHENO:0080351",
+ "UPHENO:0010799",
+ "UPHENO:0054374",
+ "UPHENO:0010763",
+ "HP:0004325",
+ "UPHENO:0010808",
+ "UPHENO:0002949",
+ "HP:0001508",
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+ "UPHENO:0082761",
+ "GO:0005623",
+ "UPHENO:0050007",
+ "HP:0025033",
+ "UPHENO:0049775",
+ "HP:0001939",
+ "GO:0010468",
+ "GO:0031327",
+ "UPHENO:0049904",
+ "GO:0050794",
+ "GO:0019222",
+ "GO:0048519",
+ "GO:0065007",
+ "GO:0008152",
+ "GO:0060255",
+ "GO:0048523",
+ "UPHENO:0050025",
+ "UPHENO:0049620",
+ "UPHENO:0050435",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0031049",
+ "GO:0031052",
+ "GO:0009890",
+ "GO:0031324",
+ "HP:0003221",
+ "GO:0010629",
+ "UPHENO:0050778",
+ "HP:0001034",
+ "HP:0011121",
+ "HP:0000953",
+ "GO:0043473",
+ "HP:0001574",
+ "UPHENO:0049757",
+ "HP:0000957",
+ "UPHENO:0080662",
+ "HP:0000951",
+ "UBERON:0002097",
+ "UBERON:0002416",
+ "UPHENO:0002635",
+ "UPHENO:0052160",
+ "HP:0006721",
+ "UPHENO:0049642",
+ "UPHENO:0050106",
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+ "GO:0009790",
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+ "GO:0032501",
+ "UPHENO:0049874",
+ "BFO:0000015",
+ "UPHENO:0005647",
+ "HP:0001510",
+ "HP:0001507",
+ "BFO:0000003",
+ "UPHENO:0080382",
+ "HP:0011355",
+ "UPHENO:0005573",
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+ "UPHENO:0050034",
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+ "GO:0007275",
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+ "HP:0007400",
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+ "UPHENO:0063581",
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+ "UPHENO:0046624",
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+ "UPHENO:0052178",
+ "UBERON:0011582",
+ "UPHENO:0054970",
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+ "PATO:0000001",
+ "UBERON:0011249",
+ "UPHENO:0075804",
+ "UPHENO:0075195",
+ "HP:0005561",
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+ "UBERON:0013701",
+ "UPHENO:0074584",
+ "BFO:0000040",
+ "NCBITaxon:33154",
+ "UBERON:0006048",
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+ "UPHENO:0053330",
+ "HP:0011842",
+ "HP:0006265",
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+ "UPHENO:0002548",
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+ "HP:0001000",
+ "UBERON:0012354",
+ "UBERON:0001893",
+ "UBERON:0004375",
+ "UPHENO:0002530",
+ "NCBITaxon:1",
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+ "UBERON:0000033",
+ "HP:0025354",
+ "UPHENO:0003025",
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+ "UPHENO:0076724",
+ "HP:0009381",
+ "UPHENO:0050040",
+ "UPHENO:0002593",
+ "UBERON:0015212",
+ "UPHENO:0046552",
+ "UPHENO:0054304",
+ "NCBITaxon:2759",
+ "UBERON:0002389",
+ "UPHENO:0081581",
+ "UBERON:5001463",
+ "GO:0040007",
+ "UBERON:0001460",
+ "UPHENO:0068971",
+ "GO:0031323",
+ "UBERON:0011138",
+ "UBERON:0002513",
+ "UBERON:0002529",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "UPHENO:0049587",
+ "UPHENO:0002844",
+ "UBERON:0019231",
+ "UPHENO:0080352",
+ "UBERON:0002405",
+ "UBERON:0000026",
+ "UBERON:0004708",
+ "UBERON:0010538",
+ "UBERON:0010712",
+ "UBERON:0010708",
+ "UBERON:0012139",
+ "GO:0031326",
+ "UBERON:0002090",
+ "UPHENO:0002526",
+ "HP:0040064",
+ "HP:0001167",
+ "UPHENO:0063577",
+ "UPHENO:0002708",
+ "UPHENO:0063558",
+ "HP:0011017",
+ "UPHENO:0002976",
+ "UBERON:0012141",
+ "UPHENO:0002782",
+ "UPHENO:0002600",
+ "UPHENO:0002833",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "UBERON:0003129",
+ "UBERON:0015061",
+ "UPHENO:0001003",
+ "UBERON:0006717",
+ "UPHENO:0052778",
+ "HP:0011927",
+ "UPHENO:0012274",
+ "UPHENO:0053208",
+ "UBERON:0002102",
+ "UPHENO:0002632",
+ "UBERON:0004111",
+ "UBERON:0005451",
+ "UBERON:0012140",
+ "UBERON:0002398",
+ "UPHENO:0003069",
+ "UPHENO:0002648",
+ "UPHENO:0002746",
+ "UPHENO:0069605",
+ "UPHENO:0087006",
+ "CL:0000738",
+ "UBERON:0005881",
+ "UBERON:5002544",
+ "UPHENO:0069327",
+ "UBERON:0010323",
+ "UPHENO:0046707",
+ "UPHENO:0002559",
+ "HP:0006727",
+ "UPHENO:0069062",
+ "UPHENO:0075159",
+ "HP:0100547",
+ "UPHENO:0002880",
+ "UBERON:0001434",
+ "HP:0006496",
+ "HP:0009778",
+ "UPHENO:0002830",
+ "UPHENO:0003799",
+ "UPHENO:0084448",
+ "UBERON:0004710",
+ "UBERON:0010314",
+ "UBERON:0001062",
+ "UPHENO:0046483",
+ "UPHENO:0063594",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0004381",
+ "UPHENO:0004476",
+ "UBERON:0007272",
+ "UPHENO:0054957",
+ "UPHENO:0004459",
+ "UBERON:0002428",
+ "HP:0000001",
+ "UBERON:0001442",
+ "UPHENO:0046426",
+ ],
+ "has_phenotype_closure_label": [
+ "anus",
+ "closing of the multicellular anatomical structure",
+ "multicellular anatomical structure atresia",
+ "digestive tract",
+ "anatomical conduit atresia",
+ "anus morphology phenotype",
+ "Abnormal anus morphology",
+ "Anal atresia",
+ "anus atresia",
+ "tube",
+ "orifice",
+ "orifice phenotype",
+ "Abnormal digestive system morphology",
+ "closing of the anatomical entity",
+ "digestive system morphology phenotype",
+ "T-cell acute lymphoblastic leukemias",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
"decreased height of the anatomical entity",
- "Abnormal ventricular septum morphology",
- "motile cell",
- "decreased size of the digit",
- "manual digit 1 phalanx endochondral element",
- "eukaryotic cell",
- "cardiac atrium morphology phenotype",
- "bone cell",
- "visual system phenotype",
- "hemolymphoid system",
- "myeloid leukocyte",
- "nucleate cell",
- "endochondral element",
- "Abnormality of the musculoskeletal system",
- "Abnormal myeloid cell morphology",
- "Abnormal neutrophil count",
- "number of anatomical enitites of type axon tract phenotype",
- "Neutropenia",
- "zeugopod",
- "white matter of telencephalon",
- "incomplete closing of the anatomical entity",
- "photoreceptor array",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "export from cell",
- "axon tract morphology phenotype",
- "immune system phenotype",
- "gland morphology phenotype",
- "head morphology phenotype",
- "cell",
- "Abnormal musculoskeletal physiology",
- "Abnormal morphology of the radius",
- "decreased number of myeloid cell",
- "entire sense organ system",
- "organ subunit",
- "absent forelimb long bone",
- "retina morphology phenotype",
- "craniocervical region",
- "regulation of cellular process",
- "hematopoietic system",
- "cerebral hemisphere morphology phenotype",
- "material anatomical entity physiology phenotype",
- "Abnormality of refraction",
- "incomplete closing of the multicellular anatomical structure",
- "multi cell part structure phenotype",
- "decreased length of neck",
- "white matter of forebrain",
- "decreased size of the gland of diencephalon",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "pituitary gland morphology phenotype",
- "absent organism subdivision",
- "anterior region of body",
- "Abnormality of the orbital region",
- "simple eye physiology phenotype",
- "neck",
- "craniocervical region phenotype",
- "Myopia",
- "diencephalon",
- "lateral structure physiology phenotype",
- "hindbrain morphology phenotype",
- "subdivision of vertebral column phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manual digit 1 or 5",
- "eye physiology phenotype",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "ectoderm-derived structure",
- "number of platelet phenotype",
- "granulocyte",
- "Morphological central nervous system abnormality",
- "visual system",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "anatomical structure physiology phenotype",
- "nervous system morphology phenotype",
- "Abnormality of joint mobility",
- "metapodium bone phenotype",
- "arm",
- "skeleton of limb phenotype",
- "Short forearm",
- "growth phenotype",
- "sensory perception of mechanical stimulus",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "immune system morphology phenotype",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "Abnormal small intestine morphology",
- "Abnormal granulocyte count",
- "absent mesoderm-derived structure",
- "Abnormal anterior eye segment morphology",
- "fused anatomical entity and cervical vertebra",
- "excretory tube",
- "absent limb endochondral element in the limb",
- "erythrocyte",
- "artery",
- "cardiac septum",
- "absent endochondral bone",
- "absent anatomical structure in the limb",
- "serotonin secreting cell",
- "lamina phenotype",
- "Thrombocytopenia",
- "platelet",
- "Abnormal platelet morphology",
- "non-connected functional system",
- "decreased number of granulocyte",
- "platelet phenotype",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "secretory cell",
- "anatomical entity dysfunction in independent continuant",
- "Abnormal platelet count",
- "multicellular organism development",
- "structure with developmental contribution from neural crest, curved phenotype",
- "endocrine gland physiology phenotype",
- "establishment of localization phenotype",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased qualitatively growth",
+ "multicellular organism mass phenotype",
+ "multicellular anatomical structure mass phenotype",
+ "closing of the anatomical structure",
+ "material anatomical entity mass phenotype",
+ "anatomical entity mass phenotype",
+ "multicellular organism phenotype",
+ "Abnormality of body weight",
+ "anatomical structure mass phenotype",
+ "Abnormality of the digestive system",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of cellular metabolic process",
"Chromosome breakage",
- "Abnormality of thrombocytes",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal circulating hormone concentration",
- "regional part of brain",
- "manual digit plus metapodial segment",
- "absent multi cell part structure",
- "Aplasia/Hypoplasia of fingers",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased length of forelimb long bone",
- "decreased length of manual digit 1 or 5",
- "manual digit 1 plus metapodial segment",
- "digit 1 phenotype",
- "digit 1",
- "sensory perception of mechanical stimulus phenotype",
- "absent anatomical entity in the brain ventricle/choroid plexus",
- "decreased size of the autopodial extension",
- "upper urinary tract phenotype",
- "regulation of cellular metabolic process phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "manual digit morphology in the manus phenotype",
- "absent tissue in the multicellular organism",
- "manus",
- "Abnormal hand morphology",
- "absent material anatomical entity in the brain",
- "Abnormality of metabolism/homeostasis",
- "acropodial skeleton",
- "Short thumb",
- "Abnormality of the hand",
- "skull",
- "skeleton of manus",
- "vertebra morphology phenotype",
- "Abnormal finger morphology",
- "decreased length of limb long bone",
- "aplasia or hypoplasia of manual digit",
- "autopodial extension",
- "commissure of telencephalon",
- "formed cerebellum",
- "absent organ in the forelimb",
- "decreased functionality of the material anatomical entity",
- "Short digit",
- "autopod region morphology phenotype",
- "autopod region phenotype",
- "closing of the anatomical entity",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "Short finger",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "Abnormal cerebral subcortex morphology",
- "decreased length of digit",
- "autopodial skeleton",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "Abnormal finger phalanx morphology",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "closing of the material anatomical entity",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "regulation of cellular biosynthetic process phenotype",
"Abnormal skin morphology",
- "decreased length of autopodial extension",
- "multicellular anatomical structure physiology phenotype",
- "renal pelvis/ureter",
- "axial skeleton plus cranial skeleton morphology phenotype",
- "decreased length of digit 1 or 5",
- "cardiac ventricle phenotype",
- "multi organ part structure physiology phenotype",
- "upper urinary tract",
- "digit 1 or 5 phenotype",
- "anatomical entity morphology in the manus phenotype",
- "posterior segment of eyeball morphology phenotype",
- "multi-tissue structure",
- "malformed anatomical entity",
- "autopod endochondral element",
- "decreased length of mesoderm-derived structure",
- "sac physiology phenotype",
- "central nervous system",
- "posterior segment of eyeball",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "ocular fundus",
- "Abnormal joint morphology",
- "anatomical wall phenotype",
- "decreased size of the forelimb bone",
- "Neurodevelopmental abnormality",
- "multi-limb segment region",
- "decreased size of the bone element",
- "optic disc morphology phenotype",
- "negative regulation of metabolic process",
- "Abnormal fundus morphology",
- "granulocyte morphology phenotype",
- "multicellular organism development phenotype",
- "Opisthokonta",
- "cranial nerve II",
- "Abnormal posterior eye segment morphology",
- "endocrine system morphology phenotype",
- "organ physiology phenotype",
- "retina phenotype",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "Irregular hyperpigmentation",
+ "skin of body phenotype",
+ "pigmentation",
+ "Hypermelanotic macule",
+ "skin of body morphology phenotype",
+ "Cafe-au-lait spot",
+ "increased biological_process in skin of body",
+ "increased pigmentation",
+ "integumental system",
+ "skin of body",
+ "Macule",
+ "Abnormality of the integument",
"decreased embryo development",
- "organism",
- "organ component layer",
- "ear morphology phenotype",
- "decreased size of the organism subdivision",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormal optic nerve morphology",
- "Abnormal nervous system morphology",
- "absent ectoderm-derived structure in the brain ventricle",
- "root",
- "cranial neuron projection bundle phenotype",
- "chorioretinal region",
- "endoderm-derived structure",
- "Abnormality of the nervous system",
- "axon tract",
- "decreased qualitatively system process",
- "digestive system",
- "biological regulation phenotype",
- "metapodium bone 1",
- "phalanx",
- "peptide hormone secretion",
- "Abnormal retinal morphology",
- "cellular organisms",
- "digestive system morphology phenotype",
- "nervous system",
- "Abnormal optic disc morphology",
- "cranial nerve II morphology phenotype",
- "ureter physiology phenotype",
- "intestine atresia",
- "Optic disc pallor",
- "biological_process phenotype",
- "Intrauterine growth retardation",
- "Growth delay",
- "number of anatomical enitites of type intercerebral commissure phenotype",
- "regulation of biological quality",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "Aplasia/Hypoplasia of the cerebrum",
- "absent organ",
+ "negative regulation of biosynthetic process",
+ "decreased qualitatively multicellular organismal process",
+ "closing of the anatomical conduit",
+ "decreased qualitatively biological_process",
"process",
- "embryo development",
- "anatomical collection phenotype",
- "occurrent",
+ "developmental process rate phenotype",
+ "anatomical structure development phenotype",
"biological_process",
- "musculature of body",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "neural crest-derived structure, curved phenotype",
"developmental process",
- "Hypermelanotic macule",
- "skull phenotype",
- "hindbrain",
- "secretion",
- "multicellular organismal process phenotype",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "material anatomical entity phenotype",
+ "multicellular organismal process",
+ "Acute lymphoblastic leukemia",
+ "growth",
+ "decreased multicellular organismal process",
+ "growth phenotype",
+ "biological_process rate phenotype",
"decreased qualitatively multicellular organism development",
- "embryo development phenotype",
+ "regulation of cellular process phenotype",
+ "anatomical structure development",
+ "decreased anatomical structure development",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
"delayed growth",
- "decreased multicellular organismal process",
- "decreased qualitatively developmental process",
- "decreased length of endochondral bone",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "Macule",
- "eyeball of camera-type eye",
- "decreased system process",
- "multi organ part structure",
- "growth",
- "decreased sensory perception",
- "nervous system process",
- "thyroid gland physiology phenotype",
- "Abnormality of the ear",
- "Absent septum pellucidum",
- "intestine",
- "decreased size of the limb bone",
- "sensory perception",
- "Abnormal ear morphology",
- "anterior segment of eyeball",
- "absent endochondral bone in the forelimb",
- "Abnormality of the middle ear",
- "phalanx of manus",
- "Hearing abnormality",
- "Microcephaly",
- "decreased sensory perception of mechanical stimulus",
- "nitrogen compound transport",
- "vibrational conductance of sound to the inner ear",
- "Abnormality of the hypothalamus-pituitary axis",
- "absent forelimb bone in the forelimb",
- "optic disc",
- "ear phenotype",
- "absent radius bone",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of sound",
- "aplasia or hypoplasia of telencephalon",
- "aplastic manual digit 1",
- "paired limb/fin skeleton",
- "absent manual digit",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "absent digit",
- "Finger aplasia",
- "Microphthalmia",
- "heart phenotype",
- "cranial skeletal system",
- "Aplasia/Hypoplasia affecting the eye",
- "vasculature phenotype",
- "incomplete closing of the blood vessel",
- "decreased size of the ectoderm-derived structure",
- "ectoderm-derived structure atresia",
- "decreased size of the sense organ",
- "decreased size of the eyeball of camera-type eye",
- "endoderm-derived structure physiology phenotype",
- "decreased functionality of the endocrine gland",
- "Abnormal ureter physiology",
- "transport phenotype",
- "absent limb endochondral element",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "endocrine gland phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "decreased functionality of the structure with developmental contribution from neural crest",
- "skeletal system morphology phenotype",
- "decreased functionality of the thyroid gland",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "glandular system",
- "neck bone phenotype",
- "localization phenotype",
- "sensory perception phenotype",
- "endocrine gland",
- "decreased length of arm bone",
- "Abnormality of thyroid physiology",
- "decreased functionality of the multicellular anatomical structure",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "decreased functionality of the organ",
- "thyroid gland",
- "segmental subdivision of hindbrain phenotype",
- "gland",
- "dorsum",
+ "embryo development rate phenotype",
+ "embryo development",
+ "delayed biological_process",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "tissue",
+ "digestive system phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormal limb bone morphology",
+ "Abnormal finger morphology",
+ "organ phenotype",
+ "endochondral bone phenotype",
+ "skeletal element phenotype",
+ "decreased size of the manual digit",
+ "bone of appendage girdle complex phenotype",
+ "decreased length of digit 1",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased size of the anatomical structure",
+ "limb bone phenotype",
"bone element phenotype",
- "decreased functionality of the anatomical structure",
- "Cerebellar malformation",
- "formed multi-tissue structure",
+ "regulation of gene expression",
+ "autopod region morphology phenotype",
+ "Localized skin lesion",
+ "Abnormal hand morphology",
+ "digit plus metapodial segment",
+ "autopodial extension",
+ "Abnormality of limbs",
+ "decreased anatomical structure mass",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased length of digit",
+ "skeleton of pectoral complex",
+ "appendicular skeletal system",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Abnormality of skin pigmentation",
+ "skeleton of limb",
+ "myeloblast",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "granulocytopoietic cell",
+ "eukaryotic cell",
+ "independent continuant",
+ "anatomical entity morphology in the manus phenotype",
+ "negative regulation of gene expression phenotype",
+ "multicellular organism development",
+ "segment of autopod",
+ "hemolymphoid system",
+ "central nervous system",
+ "multi-tissue structure phenotype",
+ "Decreased multicellular organism mass",
+ "Abnormal brain morphology",
+ "cellular organisms",
+ "skull morphology phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of head or neck",
+ "decreased length of digit 1 or 5",
+ "regional part of nervous system",
+ "forebrain",
+ "appendage phenotype",
"brain",
- "negative regulation of biological process phenotype",
- "duodenum",
- "Abnormal hindbrain morphology",
- "intestine phenotype",
- "regulation of cellular biosynthetic process",
- "autopod endochondral element phenotype",
- "cerebellum phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "closing of the anatomical structure",
- "Chiari malformation",
- "formed multicellular anatomical structure",
- "fused vertebra and bony vertebral centrum",
- "incomplete closing of the mesoderm-derived structure",
- "Aplasia/Hypoplasia of the optic nerve",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone marrow cell",
+ "system",
+ "manus phenotype",
+ "craniocervical region phenotype",
+ "main body axis",
+ "organism subdivision phenotype",
+ "endochondral element",
+ "nervous system",
+ "anatomical entity atresia",
+ "decreased length of material anatomical entity",
+ "nucleate cell",
+ "Decreased anatomical entity mass",
+ "manual digitopodium region",
+ "ectoderm-derived structure",
"structure with developmental contribution from neural crest",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "formed regional part of nervous system",
- "nervous system commissure",
- "formed regional part of brain",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "Abnormality of body height",
- "forelimb long bone",
- "brain morphology phenotype",
- "hindbrain phenotype",
- "cerebellum morphology phenotype",
- "Synostosis of joints",
- "eye",
- "Abnormal brain morphology",
- "skeletal joint",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "Abnormal joint physiology",
- "Global developmental delay",
- "commissure of telencephalon phenotype",
- "manual digit",
- "vertebral element phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "cervical region",
- "aplasia or hypoplasia of metacarpal bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "fused anatomical entity and skeletal joint",
- "absent forelimb endochondral element in the forelimb",
- "cervical vertebra morphology phenotype",
- "axial skeletal system",
- "postcranial axial skeletal system",
- "axial skeleton plus cranial skeleton",
- "decreased number of cell",
- "axial skeleton plus cranial skeleton phenotype",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "chemical entity",
- "dorsal region element",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "neck bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "pectoral complex",
- "cervical region of vertebral column",
- "absent mesoderm-derived structure in the multicellular organism",
- "renal system",
- "digitopodium bone",
- "Fused cervical vertebrae",
- "neck morphology phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "trunk or cervical vertebra",
- "articulation",
- "programmed DNA elimination",
- "Abnormality of skull size",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "fused skeletal joint and anatomical entity",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "limb long bone phenotype",
- "Vertebral segmentation defect",
- "fused vertebra and vertebra",
- "dorsal part of neck morphology phenotype",
- "skeletal joint phenotype",
- "fused anatomical entity and anatomical entity",
- "brain ventricle/choroid plexus",
- "fused anatomical entity and vertebra",
+ "anatomical entity",
+ "skull phenotype",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "negative regulation of gene expression",
+ "Phenotypic abnormality",
+ "anus phenotype",
+ "material entity",
"regulation of macromolecule biosynthetic process",
- "articular system",
+ "head phenotype",
+ "organism subdivision",
+ "regional part of brain phenotype",
+ "limb segment phenotype",
+ "telencephalon",
+ "Abnormality of the skeletal system",
+ "decreased size of the anatomical entity",
"Abnormal axial skeleton morphology",
- "gray matter of forebrain phenotype",
- "Abnormality of the vertebral column",
- "skeletal element phenotype",
- "establishment of localization",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
+ "ectoderm-derived structure phenotype",
+ "hematopoietic system phenotype",
+ "anterior region of body",
+ "appendicular skeleton",
+ "upper limb segment",
+ "decreased multicellular organism development",
+ "regional part of nervous system phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Bone marrow hypocellularity",
+ "skeletal element",
"Aplasia/Hypoplasia involving the central nervous system",
- "blood",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "signal release phenotype",
- "amide transport",
- "negative regulation of cellular process",
- "decreased number of platelet",
- "formed material anatomical entity",
- "peptide secretion",
- "peptide secretion phenotype",
- "transport",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent long bone in the forelimb",
- "haemolymphatic fluid",
- "aplasia or hypoplasia of metacarpal bone of digit 1",
- "cellular process",
- "localization",
- "aplasia or hypoplasia of manual digit 1 phalanx",
- "decreased length of forelimb bone",
- "aplasia or hypoplasia of cranial nerve II",
- "Neurodevelopmental delay",
- "Abnormal corpus callosum morphology",
- "growth hormone secretion",
- "decreased length of manual digit 1 phalanx",
- "decreased length of manual digit 1",
- "amide transport phenotype",
- "urinary bladder",
- "cellular process phenotype",
- "arterial system",
- "cell communication",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "absent dorsal telencephalic commissure",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "radius bone hypoplasia",
- "anatomical entity hypoplasia",
- "peptide transport phenotype",
- "absent radius bone in the forelimb",
- "mesoderm-derived structure morphology in the heart phenotype",
- "bodily fluid",
- "manus bone",
- "growth hormone secretion phenotype",
- "Abnormal lateral ventricle morphology",
- "bladder organ physiology phenotype",
- "Abnormality of the neck",
- "Abnormal neck morphology",
- "Abnormality of the cervical spine",
- "anatomical cluster phenotype",
+ "decreased size of the organism subdivision",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
+ "Abnormal nervous system morphology",
+ "anatomical system phenotype",
+ "decreased size of the digit",
+ "autopodial extension phenotype",
+ "Chromosomal breakage induced by crosslinking agents",
+ "forebrain morphology phenotype",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "appendage",
+ "anatomical entity phenotype",
+ "root",
+ "immune system",
+ "myeloid cell",
+ "quality",
+ "musculoskeletal system",
+ "Abnormal cell morphology",
+ "phenotype",
+ "head morphology phenotype",
+ "Abnormality of the anus",
+ "organ system subdivision",
+ "anatomical conduit phenotype",
+ "axial skeleton plus cranial skeleton",
+ "Abnormality of the nervous system",
+ "Metazoa",
+ "multi-tissue structure",
+ "decreased multicellular anatomical structure mass",
+ "increased qualitatively biological_process",
+ "All",
+ "anatomical collection",
+ "nervous system phenotype",
+ "Abnormality of the immune system",
+ "Abnormal cerebral morphology",
+ "specifically dependent continuant",
+ "Abnormal forebrain morphology",
+ "multi-limb segment region phenotype",
+ "anatomical conduit",
+ "Abnormality of the head",
+ "Decreased head circumference",
+ "biological regulation phenotype",
+ "Abnormality of skull size",
+ "pectoral complex",
+ "homeostatic process phenotype",
+ "brain morphology phenotype",
+ "anatomical entity length phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "decreased growth",
+ "disconnected anatomical group",
+ "material anatomical entity atresia",
+ "regulation of gene expression phenotype",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of biological process phenotype",
+ "subdivision of skeletal system",
+ "Leukemia",
+ "entity",
+ "continuant",
+ "multicellular anatomical structure",
+ "neoplasm phenotype",
+ "telencephalon phenotype",
+ "progenitor cell",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "pectoral appendage skeleton",
+ "regional part of brain",
+ "musculature",
+ "anatomical structure",
+ "Hyperpigmentation of the skin",
+ "digit",
+ "limb endochondral element phenotype",
+ "Decreased body weight",
+ "decreased qualitatively developmental process",
+ "postcranial axial skeleton",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "bone of appendage girdle complex",
+ "regulation of biological process",
+ "hematopoietic lineage restricted progenitor cell",
+ "nervous system morphology phenotype",
+ "digit 1 phenotype",
+ "decreased size of the multicellular organism",
+ "myeloid lineage restricted progenitor cell",
+ "telencephalon morphology phenotype",
+ "ectoderm-derived structure atresia",
+ "immune system morphology phenotype",
+ "decreased material anatomical entity mass",
+ "subdivision of organism along main body axis",
"integument phenotype",
- "renal system phenotype",
- "decreased length of organism subdivision",
- "Short neck",
- "nervous system physiology phenotype",
- "obsolete cell",
- "negative regulation of macromolecule metabolic process",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus",
+ "decreased developmental process",
+ "central nervous system morphology phenotype",
+ "axial skeletal system",
+ "motile cell",
+ "skeletal system",
+ "multicellular anatomical structure phenotype",
+ "multicellular organism height phenotype",
+ "cranial skeletal system",
+ "limb morphology phenotype",
+ "decreased length of manual digit",
+ "Eumetazoa",
+ "Eukaryota",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of skeletal system phenotype",
+ "digit 1 or 5",
+ "programmed DNA elimination by chromosome breakage",
+ "Growth abnormality",
+ "size of skull phenotype",
+ "anatomical entity morphology phenotype",
+ "multicellular organism development phenotype",
+ "subdivision of organism along appendicular axis",
+ "musculature of body",
+ "body proper",
+ "pectoral appendage",
"regulation of biosynthetic process phenotype",
- "regulation of metabolic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "organ system subdivision phenotype",
- "urinary bladder physiology phenotype",
- "homeostatic process",
- "negative regulation of gene expression",
- "pectoral appendage phenotype",
- "decreased qualitatively nervous system process",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "taxon specific phenotype",
"negative regulation of macromolecule metabolic process phenotype",
- "regulation of macromolecule metabolic process",
- "Abnormality of chromosome stability",
- "Abnormal cerebral morphology",
- "bone of dorsum phenotype",
- "forebrain morphology phenotype",
- "cranial neuron projection bundle",
- "telencephalic ventricle",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "ureter",
+ "Morphological central nervous system abnormality",
+ "digestive system",
+ "Abnormal leukocyte morphology",
+ "precursor cell",
+ "manual digit 1 plus metapodial segment",
+ "skeletal system phenotype",
+ "Abnormality of the skin",
+ "organ system subdivision phenotype",
+ "craniocervical region",
+ "aplasia or hypoplasia of telencephalon",
+ "Growth delay",
+ "decreased length of multicellular anatomical structure",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "bone of free limb or fin",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical system",
+ "occurrent",
+ "appendicular skeleton morphology phenotype",
+ "organ",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "multicellular organism morphology phenotype",
+ "Abnormal cellular immune system morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Short stature",
+ "decreased biological_process",
+ "Aplasia/hypoplasia of the extremities",
+ "manual digit plus metapodial segment",
+ "integument",
+ "leukocyte morphology phenotype",
+ "limb bone",
+ "mesoderm-derived structure",
+ "non-connected functional system",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "Abnormal cellular phenotype",
+ "Neoplasm by anatomical site",
+ "decreased length of manual digit 1",
+ "Acute leukemia",
+ "embryo development phenotype",
+ "manual digit 1 or 5",
+ "Neoplasm",
+ "hematopoietic cell",
+ "leukocyte",
+ "skeleton",
+ "immune system phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal immune system morphology",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "organism",
+ "autopod region",
+ "Abnormal cellular physiology",
+ "forelimb morphology phenotype",
+ "limb segment",
+ "multicellular organismal process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "decreased size of the multicellular anatomical structure",
+ "Short finger",
+ "skeleton of manus",
+ "Failure to thrive",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "closing of the ectoderm-derived structure",
+ "limb endochondral element",
+ "autopodial skeleton",
+ "lateral structure",
+ "Acute myeloid leukemia",
+ "Short digit",
+ "Abnormal skeletal morphology",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "anatomical collection phenotype",
+ "limb bone morphology phenotype",
+ "manual digit",
+ "arm",
+ "material anatomical entity phenotype",
+ "manus morphology phenotype",
+ "hematopoietic system",
+ "multicellular organism",
+ "arm phenotype",
+ "postcranial axial skeletal system",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Microcephaly",
+ "skeleton phenotype",
+ "paired limb/fin",
+ "forelimb skeleton",
+ "Abnormal thumb morphology",
+ "appendage girdle complex",
+ "digit phenotype",
"bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "telencephalon",
- "reproductive gland phenotype",
- "forebrain",
- "telencephalon morphology phenotype",
- "decreased length of metapodium bone",
+ "acropodium region",
+ "developmental process phenotype",
+ "paired limb/fin segment phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "manual digit 1",
+ "skull",
+ "decreased length of organism subdivision",
+ "decreased length of anatomical entity",
+ "negative regulation of cellular process phenotype",
+ "decreased size of the autopodial extension",
+ "digit 1 plus metapodial segment",
+ "decreased length of anatomical structure",
+ "Hematological neoplasm",
+ "Abnormality of the hand",
+ "hematopoietic precursor cell",
+ "limb",
+ "cell",
+ "Abnormality of the upper limb",
+ "negative regulation of macromolecule biosynthetic process",
"Aplasia/hypoplasia involving bones of the hand",
- "Colpocephaly",
- "brain ventricle phenotype",
- "telencephalon phenotype",
- "telencephalic ventricle morphology phenotype",
- "Abnormal forebrain morphology",
- "compound organ physiology phenotype",
- "bladder organ phenotype",
- "excretory tube phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "cavitated compound organ",
- "sac",
- "pelvic region element",
- "increased biological_process in skin of body",
- "Abnormal myeloid leukocyte morphology",
- "genitourinary system phenotype",
- "lower urinary tract phenotype",
- "manual digit 1 phalanx",
- "urinary bladder phenotype",
- "kidney",
- "incomplete closing of the anatomical structure",
- "viscus physiology phenotype",
- "trunk region element physiology phenotype",
- "face phenotype",
- "Abnormality of the urinary system",
- "skeleton",
- "sac phenotype",
- "Abnormal leukocyte count",
- "bladder organ",
- "Abnormality of the lower urinary tract",
- "pelvic region of trunk",
- "abdominal segment element phenotype",
- "genitourinary system",
- "cardiovascular system phenotype",
- "secretion phenotype",
- "anatomical cluster",
- "size of skull phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "cranial skeletal system phenotype",
- "Atresia of the external auditory canal",
- "number of anatomical enitites of type anatomical structure phenotype",
- "external acoustic meatus morphology phenotype",
- "regulation of hormone levels phenotype",
- "immune system",
- "closing of the anatomical conduit",
+ "Abnormal digit morphology",
+ "orifice atresia",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "decreased length of autopodial extension",
+ "upper limb segment phenotype",
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "limb skeleton subdivision",
+ "manual digit morphology in the manus phenotype",
+ "multi-limb segment region",
+ "pigmentation phenotype",
+ "manual digit phenotype",
+ "Intrauterine growth retardation",
+ "Short thumb",
+ "anatomical structure atresia",
+ "manual digit 1 morphology phenotype",
+ "endochondral element phenotype",
+ "decreased length of manual digit 1 or 5",
+ "head",
+ "Abnormality of limb bone",
+ "biological_process phenotype",
+ "decreased size of the material anatomical entity",
],
- "has_phenotype_count": 44,
+ "has_phenotype_count": 11,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0012187",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group J",
+ "name": "Fanconi anemia complementation group O",
"full_name": None,
"deprecated": None,
- "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
- "xref": [
- "DOID:0111097",
- "GARD:15449",
- "MEDGEN:323015",
- "MESH:C563801",
- "NCIT:C129027",
- "OMIM:609054",
- "UMLS:C1836860",
- ],
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
+ "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCJ",
- "Fanconi Anemia, complementation group type J",
- "Fanconi anaemia complementation group type J",
- "Fanconi anemia complementation group J",
- "Fanconi anemia complementation group type J",
- "Fanconi anemia, complementation group J",
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0001245",
+ "HP:0003774",
+ "HP:0002984",
+ "HP:0000126",
+ "HP:0000028",
"HP:0009778",
- "HP:0005528",
- "HP:0001511",
- "HP:0007565",
- "HP:0008897",
- "HP:0000568",
- "HP:0001263",
- "HP:0003221",
+ "HP:0009623",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0003241",
+ "HP:0004322",
+ "HP:0002023",
+ "HP:0025023",
],
"has_phenotype_label": [
+ "Absent thumb",
+ "Chromosome breakage",
+ "Small thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "Hypoplasia of the radius",
+ "Hydronephrosis",
+ "Cryptorchidism",
"Short thumb",
- "Bone marrow hypocellularity",
- "Intrauterine growth retardation",
- "Multiple cafe-au-lait spots",
- "Postnatal growth retardation",
- "Microphthalmia",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
+ "Proximal placement of thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "Short stature",
+ "Anal atresia",
+ "Rectal atresia",
],
"has_phenotype_closure": [
- "GO:0009889",
- "GO:0048523",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "HP:0003221",
- "UPHENO:0049904",
+ "UBERON:0013522",
+ "UPHENO:0063629",
+ "UPHENO:0002994",
+ "UBERON:0013765",
+ "UPHENO:0074310",
+ "UPHENO:0076735",
+ "HP:0002589",
+ "UPHENO:0074311",
+ "UPHENO:0076783",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UBERON:0001353",
+ "NCBITaxon:131567",
+ "UPHENO:0002714",
+ "HP:0002242",
+ "UPHENO:0063615",
+ "HP:0012732",
+ "UPHENO:0076773",
+ "UBERON:0000059",
+ "HP:0002034",
+ "UBERON:0000481",
+ "NCBITaxon:1",
+ "HP:0012718",
+ "UPHENO:0063563",
+ "UBERON:0000160",
+ "UBERON:0006866",
+ "UBERON:0001052",
+ "HP:0011100",
+ "UPHENO:0002725",
+ "UPHENO:0063577",
+ "HP:0004378",
+ "UPHENO:0002548",
+ "UPHENO:0074227",
+ "HP:0034915",
+ "UBERON:0000025",
+ "UPHENO:0076803",
+ "UPHENO:0063594",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "HP:0025033",
+ "UPHENO:0002833",
+ "UPHENO:0074230",
+ "UPHENO:0074245",
+ "UBERON:0001555",
+ "UPHENO:0063562",
+ "UPHENO:0074237",
+ "UPHENO:0000543",
+ "HP:0001507",
+ "HP:0003011",
+ "UBERON:0001630",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "HP:0011425",
+ "UBERON:0008837",
+ "HP:0002250",
+ "UBERON:0034929",
+ "UPHENO:0002655",
+ "HP:0040070",
"UPHENO:0050784",
- "GO:0019222",
- "UPHENO:0049620",
+ "GO:0008150",
+ "UPHENO:0081424",
+ "UPHENO:0003049",
+ "GO:0010558",
+ "HP:0009821",
+ "UPHENO:0004518",
"UPHENO:0049642",
- "GO:0010556",
- "GO:0031326",
- "GO:0010605",
- "UPHENO:0050065",
- "UPHENO:0050063",
- "UPHENO:0050435",
- "GO:0031052",
+ "UPHENO:0046472",
+ "GO:0009889",
+ "HP:0030680",
+ "NCBITaxon:33208",
+ "HP:0011017",
+ "UPHENO:0002976",
"UPHENO:0050025",
- "HP:0001939",
- "GO:0031327",
+ "CL:0000000",
+ "GO:0009890",
+ "UPHENO:0002750",
+ "UPHENO:0081466",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "GO:0010629",
+ "HP:0001626",
"GO:0008152",
- "GO:0042592",
+ "UPHENO:0004900",
+ "UPHENO:0003057",
+ "BFO:0000015",
+ "UPHENO:0049587",
+ "UBERON:0019231",
+ "GO:0050794",
+ "HP:0025354",
+ "UPHENO:0063596",
+ "UPHENO:0068932",
"UPHENO:0050778",
- "UPHENO:0002269",
- "HP:0012758",
- "UPHENO:0002385",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "HP:0001263",
- "UBERON:0001016",
- "UBERON:0000019",
- "UPHENO:0069523",
- "UPHENO:0049757",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UPHENO:0002844",
- "UPHENO:0087924",
- "HP:0000478",
- "HP:0100887",
- "UPHENO:0086589",
- "UPHENO:3000007",
- "UBERON:0001456",
- "UBERON:0004088",
- "UPHENO:0002764",
- "UBERON:0013701",
- "HP:0000568",
- "UPHENO:0075219",
- "UPHENO:0078606",
- "GO:0005623",
- "UPHENO:0069064",
- "UPHENO:0003025",
- "UPHENO:0004757",
- "UBERON:0002104",
- "UBERON:0010314",
- "UPHENO:0068914",
- "UPHENO:0080209",
- "UBERON:0000033",
- "UBERON:0007811",
- "UBERON:0013702",
- "UPHENO:0005058",
- "UPHENO:0004494",
- "HP:0008897",
- "HP:0001034",
- "HP:0007400",
- "UPHENO:0054957",
- "HP:0007565",
- "UPHENO:0002548",
- "UPHENO:0003811",
- "UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000953",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0012372",
- "HP:0001000",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "HP:0012733",
- "GO:0043473",
- "UBERON:0002199",
- "UPHENO:0002861",
- "UBERON:0000475",
- "UBERON:0002371",
- "UPHENO:0003020",
- "UPHENO:0003049",
- "UPHENO:0004459",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0011355",
- "UPHENO:0003514",
- "UPHENO:0088186",
- "UPHENO:0052694",
- "HP:0003220",
- "HP:0002817",
- "UBERON:0010230",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0004909",
- "UPHENO:0012274",
- "BFO:0000004",
+ "UPHENO:0002967",
+ "HP:0010461",
+ "UPHENO:0002586",
+ "UPHENO:0081204",
+ "GO:0009892",
+ "GO:0010605",
+ "UPHENO:0080079",
+ "UPHENO:0001003",
+ "UPHENO:0002944",
+ "UBERON:0002471",
+ "UPHENO:0002926",
+ "UPHENO:0003065",
+ "HP:0001939",
+ "UPHENO:0009146",
+ "UPHENO:0011825",
+ "UPHENO:0011531",
+ "UBERON:0000383",
+ "UPHENO:0053632",
+ "UPHENO:0080352",
"UBERON:0000075",
- "UPHENO:0003069",
- "UPHENO:0003812",
- "UBERON:0006058",
- "UPHENO:0002635",
- "UPHENO:0069605",
- "UBERON:0010712",
- "UPHENO:0080126",
- "HP:0000118",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012475",
- "HP:0000957",
- "PATO:0000001",
- "UPHENO:0079876",
- "UPHENO:0076739",
- "UBERON:0011249",
- "HP:0005528",
- "UBERON:0011676",
- "UPHENO:0002733",
- "GO:0032501",
"HP:0009815",
+ "UPHENO:0088186",
+ "BFO:0000040",
+ "UPHENO:0026506",
+ "UPHENO:0068848",
+ "HP:0000083",
+ "UPHENO:0086700",
+ "UPHENO:0084763",
+ "HP:0045060",
+ "MPATH:62",
+ "UPHENO:0074228",
+ "HP:0009380",
+ "UPHENO:0026108",
+ "UPHENO:0026640",
+ "UBERON:0002386",
+ "UBERON:0015021",
+ "UPHENO:0086633",
+ "UPHENO:0063632",
+ "UPHENO:0002988",
+ "UPHENO:0002832",
+ "HP:0000002",
+ "UPHENO:0076740",
+ "UPHENO:0053571",
+ "UBERON:0001474",
+ "UBERON:0002100",
+ "UPHENO:0082875",
+ "UPHENO:0002731",
+ "GO:0005623",
+ "UBERON:0002204",
+ "UPHENO:0002651",
+ "UPHENO:0084771",
+ "UPHENO:0026183",
+ "UPHENO:0080325",
+ "UPHENO:0002642",
+ "HP:0001627",
+ "UPHENO:0003005",
+ "UBERON:0001442",
+ "HP:0000001",
+ "GO:0031326",
+ "UPHENO:0002526",
+ "UPHENO:0081341",
+ "UBERON:0001434",
+ "HP:0006496",
+ "HP:0009778",
"UBERON:0002428",
- "UBERON:0004121",
- "UPHENO:0050106",
+ "UPHENO:0004476",
+ "UPHENO:0069684",
+ "BFO:0000004",
+ "UPHENO:0063558",
+ "UPHENO:0050435",
+ "UBERON:0002544",
+ "UPHENO:0076692",
+ "UPHENO:0046528",
+ "HP:0005927",
+ "UBERON:0003101",
+ "UPHENO:0003069",
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- "has_phenotype_closure_label": [
- "Chromosome breakage",
- "negative regulation of biological process phenotype",
- "regulation of biological process",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "negative regulation of gene expression",
- "metabolic process",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of gene expression phenotype",
- "regulation of macromolecule biosynthetic process",
- "negative regulation of biosynthetic process",
- "biological regulation phenotype",
- "regulation of gene expression",
- "negative regulation of cellular biosynthetic process",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "Abnormality of the nervous system",
- "Abnormal nervous system physiology",
- "anatomical system physiology phenotype",
- "anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "nervous system phenotype",
- "Neurodevelopmental abnormality",
- "Abnormality of the head",
- "sense organ phenotype",
- "regulation of biosynthetic process",
- "sense organ",
- "entire sense organ system",
- "decreased size of the eyeball of camera-type eye",
- "Abnormality of the face",
- "subdivision of organism along main body axis phenotype",
- "decreased size of the sense organ",
- "visual system",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "decreased size of the organ",
- "main body axis",
- "negative regulation of metabolic process",
- "subdivision of organism along main body axis",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "simple eye phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "camera-type eye morphology phenotype",
- "Abnormality of globe size",
- "orbital region",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "face morphology phenotype",
- "Abnormal eye morphology",
- "Microphthalmia",
- "craniofacial/craniocervical phenotype",
- "simple eye",
- "eyeball of camera-type eye",
- "face phenotype",
- "eye",
- "head morphology phenotype",
- "visual system phenotype",
- "head",
- "Abnormality of the orbital region",
- "Postnatal growth retardation",
- "Irregular hyperpigmentation",
- "increased biological_process in skin of body",
- "Localized skin lesion",
- "ectoderm-derived structure",
- "Cafe-au-lait spot",
+ "UPHENO:0046411",
+ "UPHENO:0080369",
+ "UBERON:0014793",
+ "UPHENO:3000004",
+ "HP:0009603",
+ "UPHENO:0003093",
+ "HP:0009484",
+ "UPHENO:0084829",
+ "UPHENO:0005016",
+ "UBERON:0007100",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0004535",
+ "UBERON:0004288",
+ "UPHENO:0002830",
+ "UPHENO:0046405",
+ "UBERON:0015228",
+ "UBERON:0015410",
+ "UPHENO:0050065",
+ "UBERON:0000915",
+ "UPHENO:0075949",
+ "MPATH:0",
+ "MPATH:603",
+ "UPHENO:0049874",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0000541",
+ "UPHENO:0080351",
+ ],
+ "has_phenotype_closure_label": [
+ "Opisthokonta",
+ "Anorectal anomaly",
+ "rectum morphology phenotype",
+ "Abnormal intestine morphology",
+ "Rectal atresia",
+ "closing of the organ part",
+ "intestine morphology phenotype",
+ "intestine atresia",
+ "anatomical system atresia",
+ "subdivision of digestive tract atresia",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "rectum atresia",
+ "organism",
+ "digestive system element",
+ "internal anal region",
+ "cellular organisms",
+ "Abnormal gastrointestinal tract morphology",
+ "organ part atresia",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "alimentary part of gastrointestinal system atresia",
+ "anus",
+ "material anatomical entity atresia",
+ "closing of the anatomical structure",
+ "digestive system phenotype",
+ "digestive tract",
+ "closing of the anatomical conduit",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "Abnormal anus morphology",
"ectoderm-derived structure phenotype",
- "increased biological_process",
- "integument",
- "pigmentation",
- "Hypermelanotic macule",
- "Multiple cafe-au-lait spots",
- "Abnormality of the skin",
- "integument phenotype",
- "increased pigmentation in skin of body",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "negative regulation of gene expression phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "organism subdivision phenotype",
- "paired limb/fin segment",
- "Bone marrow hypocellularity",
- "cell phenotype",
- "negative regulation of macromolecule metabolic process",
- "size of eyeball of camera-type eye phenotype",
- "aplasia or hypoplasia of manual digit 1",
+ "orifice",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "orifice phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal digestive system morphology",
+ "root",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "Abnormality of the digestive system",
+ "closing of the ectoderm-derived structure",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "palmar/plantar part of autopod",
+ "anal region",
+ "muscle structure",
+ "large intestine",
+ "material anatomical entity",
+ "Abnormal skeletal muscle morphology",
+ "arm phenotype",
+ "thoracic cavity element",
+ "pectoral appendage musculature",
+ "musculature of upper limb",
+ "regulation of cellular metabolic process",
+ "subdivision of tube phenotype",
+ "musculature of limb phenotype",
+ "independent continuant",
+ "subdivision of skeletal system",
+ "entity",
+ "forelimb zeugopod bone morphology phenotype",
"autopod region morphology phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "paired limb/fin phenotype",
- "skeletal system phenotype",
- "bone element",
- "musculature of body",
- "multi-limb segment region",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "autopodial extension",
- "decreased length of digit",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
- "manus phenotype",
- "non-connected functional system",
- "skeleton of manus",
- "Abnormal hand morphology",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "skeleton of limb",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "regulation of biological process phenotype",
- "tissue",
- "limb bone",
- "multicellular anatomical structure",
- "subdivision of skeleton",
- "Abnormality of the hand",
- "phenotypic effect",
- "Abnormal skin morphology",
- "acropodium region",
- "anatomical entity phenotype",
- "head phenotype",
- "forelimb morphology phenotype",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "decreased length of material anatomical entity",
- "anatomical collection",
- "Aplasia/hypoplasia of the extremities",
- "anatomical structure",
- "manual digit morphology in the manus phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "anatomical entity morphology phenotype",
- "decreased size of the multicellular anatomical structure",
- "digit morphology phenotype",
- "eyeball of camera-type eye phenotype",
- "manual digit 1",
- "All",
- "organ system subdivision phenotype",
- "endochondral bone phenotype",
- "forelimb phenotype",
- "taxon specific phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
"regulation of cellular biosynthetic process",
- "decreased length of digit 1",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "Abnormal skeletal morphology",
- "delayed biological_process",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of gene expression phenotype",
"segment of autopod",
- "manus",
- "phenotype",
- "skeletal element phenotype",
- "pectoral complex",
- "nervous system",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis phenotype",
+ "reproductive system",
+ "muscle organ",
+ "musculature of pectoral complex",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "cell phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "cell",
"Abnormality of the upper limb",
- "limb morphology phenotype",
- "negative regulation of metabolic process phenotype",
- "pectoral appendage skeleton",
- "appendicular skeleton",
- "hematopoietic system phenotype",
- "continuant",
- "body proper",
- "entity",
- "decreased size of the anatomical entity in the pectoral complex",
- "bone element phenotype",
- "Abnormality of skin pigmentation",
- "Abnormality of the skeletal system",
- "anatomical entity",
- "autopod region phenotype",
- "skeleton of pectoral complex",
- "manual digit plus metapodial segment",
+ "skeletal element",
"regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "limb segment",
- "musculoskeletal system",
- "immune system",
- "decreased embryo development",
- "manus morphology phenotype",
+ "zeugopod",
"regulation of biosynthetic process phenotype",
- "growth phenotype",
- "embryo development rate phenotype",
- "organ system subdivision",
- "forelimb skeleton",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Abnormality of chromosome stability",
"negative regulation of macromolecule metabolic process phenotype",
- "decreased size of the organism subdivision",
+ "increased size of the renal pelvis",
+ "homeostatic process",
+ "appendage girdle complex",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
+ "organ phenotype",
+ "decreased length of manual digit",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "dilated renal pelvis",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "subdivision of skeleton",
"endochondral bone",
- "Abnormality of chromosome stability",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "localised testis",
+ "musculoskeletal system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "decreased length of endochondral bone",
+ "Eukaryota",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
+ "Phenotypic abnormality",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Abnormality of the urinary system physiology",
+ "bone element phenotype",
+ "pectoral complex",
+ "multi-limb segment region phenotype",
+ "regulation of macromolecule metabolic process",
"upper limb segment phenotype",
- "biological_process phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "closing of the subdivision of tube",
+ "skeleton of limb",
"negative regulation of cellular process phenotype",
- "autopodial extension phenotype",
- "increased pigmentation",
- "Short thumb",
- "musculature of body phenotype",
+ "decreased size of the autopodial extension",
+ "musculature of manus",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "orifice atresia",
+ "appendicular skeleton",
"upper limb segment",
+ "external soft tissue zone phenotype",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "embryo phenotype",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "Anal atresia",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "thenar eminence hypoplasia",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "palmar part of manus",
+ "Abnormal large intestine morphology",
"Aplasia/hypoplasia involving the skeleton",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "limb bone phenotype",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "skeleton of limb phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
"arm",
- "Abnormal cell morphology",
- "decreased length of manual digit 1 or 5",
- "skin of body phenotype",
- "appendicular skeletal system",
- "material anatomical entity",
- "limb segment phenotype",
- "Macule",
- "biological_process rate phenotype",
- "pectoral appendage phenotype",
- "bone marrow cell",
+ "trunk region element physiology phenotype",
+ "male reproductive organ phenotype",
+ "autopodial extension phenotype",
"manual digit",
- "Abnormality of limbs",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "decreased size of the manual digit",
- "subdivision of organism along appendicular axis",
- "appendage girdle complex",
+ "Abnormal cardiovascular system morphology",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "late embryo phenotype",
+ "regulation of cellular process phenotype",
+ "forelimb zeugopod",
+ "Abnormal appendicular skeleton morphology",
"multicellular organism",
- "embryo development",
- "endochondral element",
- "digitopodium region",
- "anatomical system",
- "decreased qualitatively multicellular organismal process",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "decreased size of the ectoderm-derived structure",
- "digit",
- "regulation of cellular process",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "material entity",
- "camera-type eye",
- "pectoral appendage",
- "manual digitopodium region",
- "vision/eye phenotype",
- "digit 1 or 5",
- "bone of appendage girdle complex",
- "paired limb/fin",
- "cell",
- "immune system phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "muscle organ morphology phenotype",
+ "autopod region phenotype",
"material anatomical entity phenotype",
- "camera-type eye phenotype",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "Hypoplasia of the radius",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "regulation of biological process",
"digit 1 phenotype",
- "multicellular anatomical structure phenotype",
- "bone of free limb or fin phenotype",
- "forelimb",
- "digit phenotype",
- "bone cell",
- "decreased length of multicellular anatomical structure",
+ "lateral structure",
"mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "closing of the multicellular anatomical structure",
+ "organ system subdivision",
+ "thenar eminence phenotype",
+ "musculature",
+ "Abnormality of the thenar eminence",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical conduit phenotype",
+ "taxon specific phenotype",
+ "Abnormal rectum morphology",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "musculature of limb",
+ "Abnormal cellular physiology",
+ "cardiovascular system",
+ "male reproductive system phenotype",
+ "aplastic manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "lower digestive tract",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of digestive tract",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "renal pelvis",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "system",
+ "regulation of gene expression phenotype",
+ "bone of appendage girdle complex phenotype",
+ "Abnormality of prenatal development or birth",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
"Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "forelimb skeleton",
+ "genitourinary system",
+ "renal pelvis phenotype",
+ "anatomical entity",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "Proximal placement of thumb",
+ "alimentary part of gastrointestinal system phenotype",
+ "pectoral appendage skeleton",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "manus",
+ "thenar eminence",
+ "Abnormality of limbs",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "multicellular organism morphology phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the musculature of the limbs",
+ "anatomical structure physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical conduit atresia",
+ "Deviation of finger",
+ "Abnormality of the skeletal system",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "Abnormal renal pelvis morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "Short stature",
"digit 1",
- "Growth delay",
+ "aplasia or hypoplasia of manual digit",
+ "Abnormality of the musculature",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "thoracic segment of trunk",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent organism subdivision",
"autopod region",
- "Abnormal limb bone morphology",
- "subdivision of head",
- "endochondral element phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "Short finger",
- "system",
- "limb endochondral element",
- "programmed DNA elimination by chromosome breakage",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "decreased length of mesoderm-derived structure",
+ "negative regulation of macromolecule metabolic process",
+ "abdominal segment element",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Deviation of the thumb",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "absent anatomical entity",
+ "process",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "intestine phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "limb segment phenotype",
+ "digit 1 or 5 phenotype",
+ "digestive system",
+ "anatomical entity morphology phenotype",
+ "obsolete cell",
+ "decreased length of long bone",
+ "programmed DNA elimination",
+ "spatial pattern of anatomical entity phenotype",
+ "subdivision of tube atresia",
+ "multi-limb segment region",
+ "digit",
"anatomical entity length phenotype",
- "sensory system phenotype",
- "face",
- "independent continuant",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "biological_process",
- "decreased length of autopodial extension",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "musculature of pectoral complex phenotype",
"decreased length of anatomical structure",
- "negative regulation of cellular process",
- "lateral structure",
- "obsolete cell",
- "autopodial skeleton",
- "bone of appendage girdle complex phenotype",
+ "musculature of manus phenotype",
+ "trunk",
+ "Abnormality of the musculature of the hand",
+ "appendage musculature",
+ "manus morphology phenotype",
+ "musculature of upper limb phenotype",
+ "Abnormality of the musculature of the upper limbs",
+ "compound organ physiology phenotype",
+ "Small thenar eminence",
+ "abdomen element physiology phenotype",
+ "pectoral appendage musculature phenotype",
+ "digit 1 plus metapodial segment",
+ "Abnormal renal physiology",
+ "Intestinal atresia",
+ "arm bone",
+ "kidney physiology phenotype",
+ "radius endochondral element",
+ "anatomical system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "localised anatomical structure",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "cavitated compound organ physiology phenotype",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "Chronic kidney disease",
+ "renal system phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "body proper",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "male organism",
+ "renal system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "Renal insufficiency",
+ "Abnormality of the kidney",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the cardiovascular system",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "absent autopodial extension",
+ "Fetal ultrasound soft marker",
+ "closing of the material anatomical entity",
+ "circulatory system",
+ "subdivision of organism along main body axis",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "lateral structure physiology phenotype",
+ "renal system",
+ "digestive system morphology phenotype",
+ "Abnormality of the urinary system",
+ "renal/urinary system phenotype",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "upper urinary tract phenotype",
"decreased length of digit 1 or 5",
- "developmental process rate phenotype",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "testis phenotype",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "structure with developmental contribution from neural crest",
+ "Abnormality of the hand",
+ "radius bone",
+ "heart",
+ "Limb undergrowth",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
+ "decreased size of the material anatomical entity",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "Hydronephrosis",
"decreased length of organism subdivision",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormal testis morphology",
+ "cardiovascular system phenotype",
+ "decreased size of the bone of free limb or fin",
"specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb skeleton subdivision phenotype",
- "regulation of metabolic process phenotype",
- "musculature phenotype",
+ "decreased length of arm bone",
+ "decreased size of the limb bone",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "forelimb zeugopod bone",
+ "decreased length of manual digit 1 or 5",
+ "decreased length of multicellular anatomical structure",
+ "kidney",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "appendage musculature phenotype",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "bone of pectoral complex morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "organ",
"decreased size of the anatomical structure",
- "developmental process",
- "multicellular organism morphology phenotype",
"decreased size of the material anatomical entity in the pectoral complex",
- "manual digit 1 or 5",
- "developmental process phenotype",
- "quality",
- "Abnormal cellular phenotype",
- "decreased multicellular organism development",
- "organ phenotype",
- "skeleton",
- "musculature",
- "skeletal system",
- "decreased size of the digit",
- "anatomical entity morphology in the manus phenotype",
- "decreased size of the anatomical entity",
- "musculoskeletal system phenotype",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "manual digit 1 morphology phenotype",
- "Abnormality of the integument",
- "appendage",
- "decreased size of the material anatomical entity",
- "lateral structure phenotype",
- "biological regulation",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "bone of free limb or fin",
- "subdivision of skeleton phenotype",
- "Abnormality of head or neck",
- "decreased multicellular organismal process",
- "anatomical collection phenotype",
- "homeostatic process phenotype",
- "organism subdivision",
- "Abnormality of limb bone",
- "arm phenotype",
- "Abnormal bone marrow cell morphology",
- "Abnormality of blood and blood-forming tissues",
+ "decreased size of the endochondral element",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "deviation of anatomical entity",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "increased size of the anatomical structure",
+ "primary circulatory organ",
+ "localised organ",
+ "thoracic segment organ",
+ "renal pelvis/ureter",
+ "phenotype",
+ "Fetal pyelectasis",
+ "embryonic development/birth phenotype",
+ "Abnormal fetal genitourinary system morphology",
+ "organ part",
+ "external genitalia phenotype",
+ "multicellular organism phenotype",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "Abnormal renal morphology",
+ "increased size of the organ part",
+ "Fetal anomaly",
+ "renal pelvis morphology phenotype",
+ "anatomical cluster",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "decreased length of digit",
+ "anatomical conduit",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Dilatation of the renal pelvis",
+ "Gastrointestinal atresia",
+ "late embryo",
+ "limb",
+ "increased size of the anatomical entity",
+ "increased size of the material anatomical entity",
+ "biological_process",
+ "genitourinary system phenotype",
+ "dilated anatomical entity",
+ "embryo",
+ "increased size of the anatomical conduit",
+ "anus atresia",
+ "Short long bone",
+ "reproductive organ",
+ "Abnormal fetal morphology",
+ "increased size of the multicellular anatomical structure",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the genital system",
+ "testis",
+ "large intestine morphology phenotype",
+ "localised reproductive structure",
+ "reproductive system phenotype",
+ "Cryptorchidism",
+ "heart plus pericardium",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "reproductive structure phenotype",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "external genitalia",
"disconnected anatomical group",
- "programmed DNA elimination by chromosome breakage phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "anatomical structure development",
- "Intrauterine growth retardation",
+ "male reproductive organ",
+ "gonad phenotype",
+ "reproductive structure",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
+ "external male genitalia phenotype",
+ "decreased size of the organism subdivision",
+ "anterior region of body",
+ "decreased length of manual digit 1",
+ "rectum phenotype",
+ "paired limb/fin",
+ "decreased size of the digit",
+ "Short thumb",
+ "Short digit",
+ "decreased size of the forelimb bone",
+ "deviation of manual digit 1",
+ "Abnormal morphology of the radius",
+ "Deviation of the hand or of fingers of the hand",
+ "deviation of manual digit",
+ "Growth abnormality",
+ "cardiovascular system morphology phenotype",
+ "decreased size of the skeletal element",
+ "reproductive organ phenotype",
+ "viscus",
+ "circulatory organ",
+ "heart morphology phenotype",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "tube",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "arm bone phenotype",
+ "delayed growth",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased size of the multicellular organism",
+ "regulation of cellular process",
+ "decreased height of the anatomical entity",
+ "growth phenotype",
"Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "increased qualitatively biological_process",
- "Aplasia/Hypoplasia affecting the eye",
- "skin of body morphology phenotype",
- "decreased qualitatively biological_process",
- "programmed DNA elimination",
- "occurrent",
- "Chromosomal breakage induced by crosslinking agents",
- "decreased biological_process",
- "anatomical structure development phenotype",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
"growth",
- "decreased anatomical structure development",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "Short digit",
- "embryo development phenotype",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organismal process phenotype",
- "decreased length of anatomical entity",
- "decreased developmental process",
- "Abnormality of the eye",
- "decreased qualitatively embryo development",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "bone marrow",
- "multicellular organism development phenotype",
- "decreased qualitatively multicellular organism development",
- "decreased qualitatively developmental process",
- "digit 1 plus metapodial segment",
- "limb bone morphology phenotype",
- "integumental system phenotype",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0010953",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
+ "name": "Fanconi anemia complementation group E",
"full_name": None,
"deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
- "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
+ "xref": ["DOID:0111084", "GARD:15324", "MEDGEN:463628", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia",
+ "FANCE",
+ "FANCE Fanconi anaemia",
+ "FANCE Fanconi anemia",
+ "Fanconi Anemia, complementation group type E",
+ "Fanconi anaemia caused by mutation in FANCE",
+ "Fanconi anaemia complementation group type E",
+ "Fanconi anemia caused by mutation in FANCE",
+ "Fanconi anemia complementation group E",
+ "Fanconi anemia complementation group type E",
+ "Fanconi anemia, complementation group E",
+ "face",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
"HP:0001875",
+ "HP:0009777",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0000104",
+ "HP:0001017",
+ "HP:0001876",
+ "HP:0000028",
+ "HP:0003974",
"HP:0001873",
- "HP:0005528",
- "HP:0006254",
+ "HP:0009778",
+ "HP:0001896",
+ "HP:0000568",
+ "HP:0001518",
+ "HP:0001263",
"HP:0003221",
+ "HP:0009943",
+ "HP:0000978",
+ "HP:0001627",
+ "HP:0000953",
+ "HP:0000957",
"HP:0001903",
+ "HP:0001909",
+ "HP:0000081",
"HP:0004322",
- "HP:0000252",
+ "HP:0000486",
+ "HP:0000365",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000085",
],
"has_phenotype_label": [
"Neutropenia",
+ "Absent thumb",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Renal agenesis",
+ "Anemic pallor",
+ "Pancytopenia",
+ "Cryptorchidism",
+ "Absent radius",
"Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
+ "Short thumb",
+ "Reticulocytopenia",
+ "Microphthalmia",
+ "Small for gestational age",
+ "Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
+ "Complete duplication of thumb phalanx",
+ "Bruising susceptibility",
+ "Abnormal heart morphology",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
"Anemia",
+ "Leukemia",
+ "Duplicated collecting system",
"Short stature",
- "Microcephaly",
+ "Strabismus",
+ "Hearing impairment",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Horseshoe kidney",
],
"has_phenotype_closure": [
- "UBERON:0000073",
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+ "UPHENO:0079826",
+ "UBERON:0004122",
+ "UPHENO:0002595",
+ "HP:0009823",
+ "UPHENO:0010763",
+ "UPHENO:0025955",
+ "UPHENO:0025545",
+ "HP:0005927",
+ "UPHENO:0026486",
+ "UPHENO:0002738",
+ "UPHENO:0006894",
+ "UBERON:0001423",
+ "UPHENO:0009295",
+ "HP:0003953",
+ "UPHENO:0026023",
+ "UPHENO:0011563",
+ "UPHENO:0002750",
+ "UPHENO:0026317",
+ "UPHENO:0086956",
+ "UPHENO:0009341",
+ "UPHENO:0079872",
+ "UBERON:0004535",
+ "HP:0009142",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0013702",
+ "UPHENO:0080187",
+ "UPHENO:0069254",
+ "UBERON:0000949",
+ "UBERON:0003466",
+ "HP:0040070",
+ "GO:0006725",
+ "UPHENO:0087501",
+ "HP:0004377",
+ "UPHENO:0008709",
+ "UPHENO:0002594",
+ "UPHENO:0086019",
+ "UPHENO:0026312",
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
+ "3-D shape anatomical entity",
+ "shape anatomical entity",
+ "Horseshoe kidney",
+ "response to stress",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
+ "interphase",
+ "ear",
+ "sensory perception",
+ "decreased sensory perception",
+ "decreased nervous system process",
+ "decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
+ "decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
+ "anatomical line",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "eye physiology phenotype",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of eye movement",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
+ "size of multicellular organism phenotype",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
+ "Duplicated collecting system",
+ "Neoplasm",
+ "Leukemia",
+ "neoplasm phenotype",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Macule",
+ "biological_process rate phenotype",
+ "increased qualitatively biological_process",
+ "Hyperpigmentation of the skin",
+ "Abnormal heart morphology",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "Abnormality of the cardiovascular system",
+ "anatomical cluster phenotype",
+ "Generalized abnormality of skin",
+ "Vascular skin abnormality",
+ "vasculature",
+ "pigmentation",
+ "Abnormal finger phalanx morphology",
+ "Duplication of thumb phalanx",
+ "Complete duplication of thumb phalanx",
+ "manual digit 1 phalanx",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
+ "phalanx",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "pigmentation phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "DNA metabolic process",
+ "negative regulation of macromolecule metabolic process",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
+ "Chromosomal breakage induced by crosslinking agents",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Neurodevelopmental delay",
+ "multicellular organism mass phenotype",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
+ "camera-type eye",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the eye",
+ "face phenotype",
+ "orbital region",
+ "sense organ",
+ "Microphthalmia",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
+ "eyeball of camera-type eye phenotype",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
+ "enucleated reticulocyte morphology phenotype",
+ "decreased length of digit 1",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of autopodial extension",
+ "decreased size of the material anatomical entity",
+ "Short thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of manual digit",
+ "decreased length of anatomical structure",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "decreased size of the anatomical entity",
+ "decreased length of organism subdivision",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of radius bone",
+ "forelimb zeugopod bone phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "absent forelimb zeugopod bone",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "absent bone element in the limb",
+ "forelimb zeugopod morphology phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent long bone",
+ "bone of pectoral complex morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "Abnormal forearm bone morphology",
+ "absent radius bone in the forelimb",
+ "bone of pectoral complex phenotype",
+ "limb long bone morphology phenotype",
+ "absent endochondral bone in the forelimb",
+ "absent limb endochondral element in the limb",
+ "delayed growth",
+ "arm bone phenotype",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "cellular process",
+ "long bone morphology phenotype",
+ "absent endochondral element",
+ "absent organ in the limb",
+ "Aplasia/Hypoplasia of the radius",
+ "vestibulo-auditory system",
+ "absent limb endochondral element",
+ "absent limb bone",
+ "forelimb bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "Absent forearm bone",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "absent bone element",
+ "Abnormal morphology of the radius",
+ "Reticulocytopenia",
+ "absent forelimb bone in the limb",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "forelimb long bone phenotype",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "radius bone phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "regulation of biosynthetic process phenotype",
+ "zeugopod",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nervous system physiology phenotype",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased functionality of the gonad",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "subdivision of head",
+ "absent mesoderm-derived structure in the forelimb",
+ "appendage girdle complex",
+ "digit phenotype",
+ "Renal hypoplasia/aplasia",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "kinesthetic behavior",
"Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
- "organ phenotype",
+ "negative regulation of cellular metabolic process",
"Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
- "regional part of brain",
- "central nervous system",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "Duplication of hand bones",
+ "nervous system process",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "decreased size of the anatomical structure",
+ "organ",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "manual digit 1 phalanx endochondral element",
+ "tissue",
+ "forelimb zeugopod bone morphology phenotype",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased multicellular organismal process",
+ "root",
+ "localised testis",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
+ "anterior region of body",
+ "cardiovascular system",
+ "absent skeletal element",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
"organism subdivision phenotype",
- "head morphology phenotype",
+ "appendage phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "multi-limb segment region",
+ "manual digit plus metapodial segment",
+ "digit 1 plus metapodial segment",
+ "anatomical entity length phenotype",
+ "digit",
+ "digit 1 or 5 phenotype",
+ "Abnormal digit morphology",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "limb",
+ "cell",
+ "absent anatomical entity in the renal system",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "absent skeletal element in the forelimb",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
+ "absent organism subdivision",
+ "Neurodevelopmental abnormality",
+ "manus phenotype",
"head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "axial skeleton plus cranial skeleton",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "absent mesoderm-derived structure",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "skeleton of manus",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "autopodial extension phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "G2 phase",
+ "nervous system phenotype",
+ "All",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "paired limb/fin segment phenotype",
+ "absent anatomical structure in the forelimb",
+ "acropodium region",
+ "Intellectual disability",
+ "bone marrow",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "arm phenotype",
+ "hematopoietic system",
+ "agenesis of anatomical entity",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "absent kidney",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "arm",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "manual digit",
+ "limb bone morphology phenotype",
+ "Abnormal skeletal morphology",
"anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
+ "absent anatomical structure in the limb",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "decreased size of the sense organ",
+ "anatomical collection phenotype",
+ "quality",
+ "decreased number of platelet",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased number of anatomical entity",
"Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
- "negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
- "negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
- "biological regulation phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
"musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
+ "regional part of brain",
+ "Abnormality of limbs",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "skeletal element",
"taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "Abnormal platelet morphology",
"granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
+ "biological phase",
+ "autopod bone",
+ "mesoderm-derived structure",
+ "cell phenotype",
+ "obsolete cell",
+ "programmed DNA elimination",
"anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
+ "Abnormal localization of kidney",
+ "size of skull phenotype",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "circulatory system",
+ "bone marrow cell",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "eye phenotype",
+ "Abnormal cellular immune system morphology",
+ "absent multicellular anatomical structure in the limb",
+ "endocrine system phenotype",
"multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
+ "skeletal system",
+ "cavitated compound organ",
"Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "skeleton",
+ "Abnormal bleeding",
+ "immune system phenotype",
+ "decreased functionality of the organ",
+ "aplasia or hypoplasia of manual digit 1",
+ "reproductive system physiology phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "absent autopodial extension",
"hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "skeleton of pectoral complex",
+ "eukaryotic cell",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "specifically dependent continuant",
+ "arm bone",
+ "Abnormal myeloid leukocyte morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "structure with developmental contribution from neural crest phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "immune system",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
+ "Prolonged G2 phase of cell cycle",
+ "pectoral appendage skeleton",
+ "Abnormality of skin pigmentation",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "organ physiology phenotype",
"Abnormal cell morphology",
- "heteroorganic entity",
+ "phenotype",
+ "limb endochondral element",
+ "digit plus metapodial segment",
+ "skeletal system phenotype",
+ "absent anatomical entity",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "Complete duplication of phalanx of hand",
+ "limb bone",
+ "granulocyte",
+ "bone of appendage girdle complex phenotype",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "shape kidney",
+ "ectoderm-derived structure physiology phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "neutrophil phenotype",
+ "external male genitalia",
+ "aplasia or hypoplasia of skeleton",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
+ "localised multicellular anatomical structure",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "absent bone of appendage girdle complex in the limb",
+ "number of cell phenotype",
+ "number of leukocyte phenotype",
+ "platelet",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
+ "manual digit phenotype",
"anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
- "oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "DNA metabolic process phenotype",
+ "multi-limb segment region phenotype",
"hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
+ "decreased number of material anatomical entity",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "Abnormal nervous system physiology",
+ "Abnormality of the immune system",
"regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
- "erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- ],
- "has_phenotype_count": 8,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0013565",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group G",
- "full_name": None,
- "deprecated": None,
- "description": "Fanconi anemia caused by mutations of the FANCG gene.",
- "xref": ["DOID:0111086", "GARD:15753", "MEDGEN:854017", "NCIT:C125708", "OMIM:614082", "UMLS:C3469527"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FANCG",
- "Fanconi Anemia, complementation group type G",
- "Fanconi anaemia complementation group type G",
- "Fanconi anemia complementation group G",
- "Fanconi anemia complementation group type G",
- "Fanconi anemia, complementation group G",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001875",
- "HP:0002863",
- "HP:0001510",
- "HP:0001873",
- "HP:0007565",
- "HP:0000568",
- "HP:0001172",
- "HP:0001903",
- "HP:0003220",
- "HP:0001909",
- "HP:0000252",
- ],
- "has_phenotype_label": [
- "Neutropenia",
- "Myelodysplasia",
- "Growth delay",
+ "anatomical structure mass phenotype",
+ "multicellular organism",
+ "decreased functionality of the anatomical structure",
"Thrombocytopenia",
- "Multiple cafe-au-lait spots",
- "Microphthalmia",
- "Abnormal thumb morphology",
- "Anemia",
- "Abnormality of chromosome stability",
- "Leukemia",
+ "leukocyte",
+ "increased biological_process in skin of body",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cellular response to stimulus phenotype",
+ "absent bone element in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent anatomical entity in the forelimb",
+ "multicellular anatomical structure",
+ "primary metabolic process",
+ "Abnormality of the skin",
+ "forelimb endochondral element",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "cell cycle",
+ "pectoral complex",
+ "decreased size of the manual digit",
+ "trunk region element",
+ "absent limb long bone in the forelimb",
+ "Anemic pallor",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
"Microcephaly",
- ],
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0009121",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "HP:0000252",
- "UBERON:0011138",
- "UBERON:0011137",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0001016",
- "UPHENO:0004802",
- "UBERON:0001890",
- "HP:0000240",
- "UPHENO:0049904",
- "HP:0001939",
- "GO:0008152",
- "GO:0042592",
- "UPHENO:0088170",
- "CL:0000764",
- "UPHENO:0088162",
- "UPHENO:0080200",
- "UBERON:0010707",
- "UPHENO:0002586",
- "UPHENO:0002983",
- "UBERON:0010323",
- "UBERON:0002529",
- "UBERON:0001460",
- "UBERON:0010740",
- "UBERON:0004710",
- "UPHENO:0003065",
- "UPHENO:0002559",
- "UPHENO:0003227",
- "UBERON:0000075",
- "UPHENO:0002945",
- "UBERON:0002101",
- "UBERON:0019221",
- "UBERON:0005944",
- "UPHENO:0084763",
- "HP:0001909",
- "UBERON:0012141",
- "UPHENO:0003799",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0040068",
- "UPHENO:0003005",
- "UPHENO:0002593",
- "UPHENO:0002736",
- "HP:0001167",
- "UBERON:0010538",
- "UBERON:0006058",
- "UBERON:5006048",
- "UPHENO:0003095",
- "UBERON:0000026",
- "UPHENO:0003069",
- "UPHENO:0002632",
- "UPHENO:0004909",
- "UPHENO:0003812",
- "UPHENO:0002746",
- "UBERON:0010712",
- "HP:0002977",
- "RO:0002577",
- "HP:0001155",
- "UPHENO:0087006",
- "UBERON:0002428",
- "UPHENO:0002648",
- "UPHENO:0002896",
- "UPHENO:0002870",
- "UPHENO:0002708",
- "UBERON:0012140",
- "UBERON:0010912",
- "UPHENO:0084448",
- "CL:0000151",
- "UPHENO:0074575",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "BFO:0000003",
- "UBERON:0000467",
- "HP:0011017",
- "BFO:0000015",
- "GO:0008150",
- "UPHENO:0000541",
- "HP:0012639",
- "CL:0000775",
- "HP:0001507",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010974",
- "UBERON:0002405",
- "HP:0033127",
- "UBERON:0002097",
- "UBERON:5001463",
- "UPHENO:0003415",
- "UPHENO:0063787",
- "UBERON:0000062",
- "UPHENO:0004064",
- "HP:0001877",
- "HP:0007400",
- "HP:0002060",
- "UBERON:0001062",
- "UPHENO:0005214",
- "UPHENO:0003410",
- "HP:0000118",
- "UBERON:0006048",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002944",
- "UPHENO:0002910",
- "HP:0001871",
- "CL:0000255",
- "CL:0000738",
- "UPHENO:0001001",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0088176",
- "UPHENO:0050008",
- "HP:0000271",
- "UPHENO:0002963",
- "UBERON:0001017",
- "HP:0001903",
- "UBERON:0034925",
- "UBERON:0002398",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0086172",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0075804",
- "CL:0000232",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "UPHENO:0074584",
- "UBERON:0000019",
- "HP:0001874",
- "UPHENO:0004459",
- "HP:0007364",
- "CL:0000233",
- "UBERON:0001893",
- "UPHENO:0079876",
- "UBERON:0000061",
- "CL:0000766",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0077373",
- "BFO:0000004",
- "HP:0004377",
- "HP:0000152",
- "UPHENO:0086176",
- "BFO:0000002",
- "UBERON:0002090",
- "UBERON:0000047",
- "CL:0000225",
- "CL:0000094",
- "UPHENO:0002530",
- "CL:0000988",
- "UPHENO:0002525",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CL:0000763",
- "UBERON:0002389",
- "HP:0005561",
- "UBERON:0004765",
- "CL:0000457",
- "UPHENO:0086700",
- "HP:0001881",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "UPHENO:0085356",
- "HP:0011873",
- "UPHENO:0005058",
- "CL:0002242",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "UPHENO:0002764",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "decreased size of the autopodial extension",
+ "absent bone of pectoral complex in the limb",
+ "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "absent trunk region element in the renal system",
+ "continuant",
+ "paired limb/fin phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "musculature of body",
+ "camera-type eye phenotype",
+ "manus",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "integument phenotype",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "anatomical entity morphology in the manus phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "anatomical structure",
+ "localised trunk region element",
+ "absent lateral structure",
+ "Anemia",
+ "manus bone",
+ "Abnormality of the hand",
+ "radius bone",
+ "Subcutaneous hemorrhage",
+ "absent organism subdivision in the multicellular organism",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "limb segment",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "forelimb morphology phenotype",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "subdivision of organism along appendicular axis",
+ "absent anatomical structure in the multicellular organism",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "autopodial skeleton",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
+ "multicellular organism phenotype",
+ "external genitalia phenotype",
+ "system process",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "reproductive structure physiology phenotype",
+ "behavior phenotype",
+ "forelimb zeugopod bone",
+ "nervous system",
+ "renal system",
+ "endochondral bone phenotype",
+ "cognition",
+ "absent abdominal segment element",
+ "localised anatomical structure",
+ "simple eye phenotype",
+ "abdomen element",
+ "absent anatomical structure",
+ "localised kidney",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent cavitated compound organ",
+ "Abnormal renal morphology",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "renal system phenotype",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "renal collecting system",
+ "immune system morphology phenotype",
+ "Ectopic kidney",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
+ "absent endochondral bone",
+ "localised organ",
+ "body proper",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
+ "Short digit",
+ "absent multicellular anatomical structure in the renal system",
+ "eye",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormal granulocyte count",
+ "skin of body phenotype",
+ "Abnormality of the kidney",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "excretory system",
+ "subdivision of organism along main body axis",
+ "Abnormal conjugate eye movement",
+ "renal/urinary system phenotype",
+ "forelimb bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "upper urinary tract phenotype",
+ "integument",
+ "platelet phenotype",
+ "biological_process",
+ "genitourinary system phenotype",
+ "decreased length of digit",
+ "manual digitopodium region",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "Growth delay",
+ "kidney",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "organic substance metabolic process",
+ "heart",
+ "Abnormality of the head",
+ "limb long bone phenotype",
+ "multi-tissue structure",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "absent arm bone",
+ "reproductive organ",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "Abnormality of body weight",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased size of the multicellular organism",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "craniocervical region",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "subdivision of organism along main body axis phenotype",
+ "regulation of gene expression phenotype",
+ "system",
+ "brain morphology phenotype",
+ "forelimb skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "decreased length of manual digit 1 or 5",
+ "decreased functionality of the multicellular anatomical structure",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
+ "erythroid lineage cell",
+ "telencephalon",
+ "head phenotype",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Abnormal brain morphology",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "Abnormality of the genital system",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "myeloid leukocyte phenotype",
+ "forebrain",
+ "gonad physiology phenotype",
+ "nucleate cell",
+ "reproductive structure phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "limb endochondral element phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "absent arm bone in the forelimb",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "absent lateral structure in the renal system",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "gonad phenotype",
+ "immaterial entity",
+ "Abnormality of chromosome stability",
+ "anatomical entity dysfunction in independent continuant",
+ "Neutropenia",
+ "reproductive structure",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "neutrophil",
+ "absent abdomen element",
+ "decreased number of anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "number of anatomical enitites of type organ phenotype",
+ "Duplication of phalanx of hand",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent organ",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "biological regulation",
+ "Global developmental delay",
+ "abdominal segment of trunk",
+ "absent trunk region element",
+ "Renal agenesis",
+ "motile cell",
+ "absent abdominal segment element in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent organ in the renal system",
+ "digit morphology phenotype",
+ "absent abdomen element in the renal system",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "absent compound organ",
+ "oxygen accumulating cell",
+ "Abnormality of the integument",
+ "erythroid lineage cell morphology phenotype",
+ "sensory perception of mechanical stimulus",
+ "Abnormal upper limb bone morphology",
+ "skin of body",
+ "integumental system",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "Abnormal skin morphology",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "absent bone of appendage girdle complex",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "testis",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "testis phenotype",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "absent forelimb bone in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "forelimb long bone",
+ "serotonin secreting cell",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "radius endochondral element",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "Aplasia involving bones of the upper limbs",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "absent limb endochondral element in the forelimb",
+ "regulation of biological process phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "absent anatomical structure in the skeletal system",
+ ],
+ "has_phenotype_count": 32,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0012187",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group J",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
+ "xref": [
+ "DOID:0111097",
+ "GARD:15449",
+ "MEDGEN:323015",
+ "MESH:C563801",
+ "NCIT:C129027",
+ "OMIM:609054",
+ "UMLS:C1836860",
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "FANCJ",
+ "Fanconi Anemia, complementation group type J",
+ "Fanconi anaemia complementation group type J",
+ "Fanconi anemia complementation group J",
+ "Fanconi anemia complementation group type J",
+ "Fanconi anemia, complementation group J",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
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+ ],
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+ "Short thumb",
+ "Bone marrow hypocellularity",
+ "Intrauterine growth retardation",
+ "Multiple cafe-au-lait spots",
+ "Microphthalmia",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ ],
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],
"has_phenotype_closure_label": [
- "nervous system",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "skull",
- "cranial skeletal system phenotype",
- "regional part of brain phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "skull phenotype",
- "regional part of nervous system phenotype",
- "postcranial axial skeleton",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Eukaryota",
- "multi-tissue structure phenotype",
- "central nervous system",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "Leukemia",
- "Abnormal cellular physiology",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of cellular biosynthetic process",
"metabolic process",
+ "negative regulation of cellular metabolic process",
+ "Chromosome breakage",
+ "negative regulation of biological process phenotype",
"homeostatic process",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "oxygen accumulating cell",
- "brain",
- "erythrocyte",
- "skeleton phenotype",
- "arm phenotype",
- "anatomical collection phenotype",
- "manual digit 1 morphology phenotype",
- "anatomical entity morphology in the manus phenotype",
- "subdivision of skeletal system phenotype",
- "limb skeleton subdivision phenotype",
- "obsolete cell",
- "bone of appendage girdle complex phenotype",
- "manual digitopodium region",
- "limb morphology phenotype",
- "paired limb/fin skeleton",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Chromosomal breakage induced by crosslinking agents",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
"Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "limb segment phenotype",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "paired limb/fin phenotype",
- "manus phenotype",
- "subdivision of skeleton",
- "autopod region phenotype",
- "Abnormality of the hand",
- "autopod region morphology phenotype",
- "paired limb/fin segment",
- "multi-limb segment region",
- "autopodial extension",
- "digit plus metapodial segment",
- "appendage phenotype",
- "Abnormal finger morphology",
- "limb bone",
- "skeleton of limb",
- "manus",
- "limb endochondral element phenotype",
- "forebrain morphology phenotype",
- "endochondral bone phenotype",
- "segment of autopod",
- "upper limb segment",
- "platelet",
- "digit 1 or 5 phenotype",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "Abnormality of globe size",
- "system",
- "Thrombocytopenia",
- "biological_process",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "biological regulation phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "programmed DNA elimination",
+ "nervous system",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the nervous system",
+ "anatomical entity physiology phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "Global developmental delay",
+ "camera-type eye",
+ "Abnormality of head or neck",
+ "Abnormality of the face",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "craniocervical region phenotype",
+ "main body axis",
+ "subdivision of organism along main body axis",
"Abnormality of the orbital region",
- "occurrent",
- "Growth delay",
- "ectoderm-derived structure",
- "cellular organisms",
- "pectoral complex",
- "Myelodysplasia",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "Abnormal digit morphology",
- "digit 1",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "growth phenotype",
- "manus morphology phenotype",
- "musculature of body",
- "bone element",
- "skeletal system",
- "camera-type eye morphology phenotype",
- "neutrophil phenotype",
- "digitopodium region",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "specifically dependent continuant",
- "limb endochondral element",
- "decreased number of anatomical structure",
- "subdivision of organism along appendicular axis phenotype",
- "decreased number of cell",
- "paired limb/fin segment phenotype",
- "organ system subdivision phenotype",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "number of anatomical enitites of type neutrophil phenotype",
- "increased qualitatively biological_process",
- "Neutropenia",
- "forelimb",
- "Abnormal cellular phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "blood cell phenotype",
- "hematopoietic system",
- "neoplasm phenotype",
- "Microphthalmia",
- "manual digit 1 or 5",
- "bone cell",
- "visual system phenotype",
- "digit phenotype",
- "delayed growth",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "camera-type eye morphology phenotype",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "Abnormality of globe size",
+ "face phenotype",
+ "head morphology phenotype",
+ "orbital region",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region",
+ "body proper",
+ "Abnormal nervous system physiology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "eyeball of camera-type eye phenotype",
+ "visual system",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "Abnormality of the head",
+ "sense organ phenotype",
+ "simple eye",
+ "face morphology phenotype",
+ "homeostatic process phenotype",
+ "subdivision of head phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
"Irregular hyperpigmentation",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "skull morphology phenotype",
- "motile cell",
+ "ectoderm-derived structure phenotype",
+ "skin of body phenotype",
+ "pigmentation",
+ "Abnormality of the integument",
+ "endochondral element",
+ "organism subdivision phenotype",
+ "multi-limb segment region",
+ "digit 1 or 5 phenotype",
+ "limb segment phenotype",
+ "organism subdivision",
+ "vision/eye phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
"process",
- "serotonin secreting cell",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "head",
- "hemolymphoid system",
- "hematopoietic cell",
- "manual digit morphology in the manus phenotype",
- "number of anatomical enitites of type granulocyte phenotype",
- "Abnormality of the eye",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "pectoral appendage phenotype",
- "Abnormal leukocyte count",
- "Abnormal hand morphology",
- "secretory cell",
- "Aplasia/Hypoplasia involving the central nervous system",
+ "digit 1 plus metapodial segment",
+ "negative regulation of cellular process phenotype",
+ "decreased size of the autopodial extension",
+ "negative regulation of macromolecule biosynthetic process",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "regulation of biological process",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "integumental system",
+ "anatomical entity morphology in the manus phenotype",
+ "independent continuant",
+ "decreased multicellular organism development",
+ "decreased length of digit 1",
+ "decreased biological_process",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased size of the digit",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
+ "sense organ",
+ "anatomical system phenotype",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "bone of free limb or fin",
+ "digit morphology phenotype",
+ "musculature of body",
+ "Neurodevelopmental delay",
+ "pectoral appendage",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
"sensory system",
- "skeletal system phenotype",
- "skeletal element",
- "autopodial extension phenotype",
+ "multicellular organism morphology phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "manus",
+ "integument phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "bone marrow",
+ "acropodium region",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "limb bone phenotype",
+ "manual digit plus metapodial segment",
+ "protein-containing material entity",
+ "segment of manus",
+ "multicellular organismal process",
+ "limb bone",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormality of skin pigmentation",
+ "skeleton of limb",
+ "Abnormality of the skin",
+ "organ system subdivision phenotype",
+ "anatomical structure",
"musculature",
- "main body axis",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
- "continuant",
- "musculoskeletal system",
- "immune system",
- "limb segment",
- "material entity",
- "leukocyte",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "anatomical system phenotype",
- "tissue",
+ "developmental process rate phenotype",
+ "Abnormal digit morphology",
+ "anterior region of body",
+ "skeletal system",
+ "skin of body",
"Abnormality of the musculoskeletal system",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal limb bone morphology",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "forelimb phenotype",
+ "decreased length of manual digit 1",
+ "forelimb skeleton",
+ "autopod region phenotype",
"taxon specific phenotype",
- "Decreased head circumference",
- "independent continuant",
- "face",
- "sensory system phenotype",
+ "paired limb/fin phenotype",
+ "decreased length of anatomical structure",
+ "decreased developmental process",
+ "autopodial extension phenotype",
+ "Short finger",
+ "skeleton of manus",
+ "mesoderm-derived structure",
+ "paired limb/fin segment phenotype",
+ "developmental process phenotype",
+ "lateral structure",
+ "Short digit",
+ "upper limb segment",
+ "appendicular skeleton",
+ "Abnormal cellular physiology",
+ "forelimb morphology phenotype",
+ "limb segment",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "autopod region",
+ "biological_process",
+ "decreased size of the anatomical entity",
"Abnormality of the skeletal system",
- "Neoplasm",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "immune system morphology phenotype",
- "Abnormal cell morphology",
- "erythroid lineage cell",
- "Cafe-au-lait spot",
- "anatomical entity",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "decreased number of leukocyte",
- "Abnormal thumb morphology",
- "eye phenotype",
- "Abnormal granulocyte count",
- "decreased number of anatomical entity",
- "appendage",
- "Abnormality of the integument",
- "decreased size of the material anatomical entity",
- "sense organ phenotype",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "phenotype",
- "skeletal element phenotype",
- "Abnormal skeletal morphology",
+ "entire sense organ system",
+ "continuant",
+ "anatomical system physiology phenotype",
+ "tissue",
"delayed biological_process",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Abnormality of blood and blood-forming tissues",
- "craniocervical region morphology phenotype",
- "Abnormality of chromosome stability",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "decreased size of the sense organ",
- "endochondral bone",
- "anatomical entity phenotype",
- "multicellular organism phenotype",
- "multicellular anatomical structure",
+ "manual digit morphology in the manus phenotype",
+ "limb skeleton subdivision",
+ "nervous system phenotype",
+ "increased qualitatively biological_process",
+ "anatomical collection",
+ "All",
+ "decreased length of material anatomical entity",
+ "decreased qualitatively biological_process",
+ "negative regulation of gene expression",
+ "Phenotypic abnormality",
+ "Abnormality of the hand",
+ "decreased size of the multicellular anatomical structure",
+ "decreased qualitatively embryo development",
+ "skeleton phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the organism subdivision",
"material anatomical entity",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "endochondral element phenotype",
- "subdivision of head",
- "myeloid leukocyte phenotype",
- "autopod region",
- "Neoplasm by anatomical site",
- "anatomical structure",
- "Hematological neoplasm",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of skeleton phenotype",
- "bone of free limb or fin",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "orbital region",
- "digit morphology phenotype",
- "myeloid cell",
- "digit",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "manual digit 1",
+ "manus phenotype",
+ "paired limb/fin",
+ "specifically dependent continuant",
+ "growth",
+ "Abnormal thumb morphology",
"decreased size of the ectoderm-derived structure",
- "musculature of body phenotype",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "number of leukocyte phenotype",
+ "subdivision of organism along appendicular axis",
+ "multicellular organism development phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "multicellular organismal process phenotype",
+ "manual digitopodium region",
+ "Abnormal eye morphology",
+ "manual digit",
+ "pectoral appendage skeleton",
+ "quality",
+ "decreased length of multicellular anatomical structure",
+ "Growth delay",
+ "Abnormal limb bone morphology",
+ "manus morphology phenotype",
+ "material anatomical entity phenotype",
+ "decreased length of digit 1 or 5",
+ "growth phenotype",
+ "decreased length of autopodial extension",
+ "endochondral bone",
+ "upper limb segment phenotype",
+ "subdivision of skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "face",
+ "anatomical entity morphology phenotype",
+ "Growth abnormality",
"manual digit 1 plus metapodial segment",
- "segment of manus",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "nervous system morphology phenotype",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure",
- "anucleate cell",
- "appendage girdle complex",
- "Abnormal platelet count",
- "Abnormal forebrain morphology",
- "increased biological_process in skin of body",
- "number of platelet phenotype",
- "Abnormality of thrombocytes",
+ "embryo development phenotype",
+ "manual digit 1 or 5",
+ "anatomical system",
+ "delayed growth",
+ "limb endochondral element",
+ "phenotype",
+ "Abnormal cell morphology",
+ "Abnormal appendicular skeleton morphology",
+ "material entity",
+ "Macule",
+ "anatomical collection phenotype",
"limb bone morphology phenotype",
- "digit 1 plus metapodial segment",
- "integumental system phenotype",
- "acropodium region",
- "Abnormal skin morphology",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "Abnormality of the face",
- "manual digit",
- "Abnormality of limbs",
- "skin of body",
- "integumental system",
- "pigmentation phenotype",
- "Hyperpigmentation of the skin",
- "increased pigmentation in skin of body",
+ "autopodial skeleton",
+ "digit 1 or 5",
+ "bone of appendage girdle complex phenotype",
+ "decreased size of the manual digit",
+ "anatomical entity",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively anatomical structure development",
+ "arm",
+ "hematopoietic system",
+ "arm phenotype",
+ "multicellular organism",
+ "disconnected anatomical group",
+ "decreased length of anatomical entity",
+ "decreased length of organism subdivision",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "organ system subdivision",
+ "orbital region phenotype",
+ "appendage phenotype",
+ "manual digit 1 morphology phenotype",
+ "endochondral element phenotype",
+ "phenotypic effect",
"size of anatomical entity phenotype",
- "integument phenotype",
- "Abnormality of the skin",
- "regional part of brain",
+ "regulation of gene expression",
+ "autopod region morphology phenotype",
+ "subdivision of head",
+ "decreased length of manual digit 1 or 5",
+ "multi-limb segment region phenotype",
+ "head",
+ "Abnormality of limb bone",
+ "pectoral complex",
+ "size of eyeball of camera-type eye phenotype",
+ "bone element phenotype",
+ "biological_process phenotype",
+ "decreased size of the material anatomical entity",
+ "multicellular anatomical structure",
+ "Abnormal skeletal morphology",
+ "forelimb",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "hematopoietic system phenotype",
"appendicular skeletal system",
- "skin of body phenotype",
- "Multiple cafe-au-lait spots",
- "Hypermelanotic macule",
- "biological_process rate phenotype",
- "Macule",
- "pigmentation",
+ "eye",
+ "paired limb/fin segment",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased anatomical structure development",
+ "digit",
+ "limb endochondral element phenotype",
+ "Hyperpigmentation of the skin",
+ "skeleton of pectoral complex",
"integument",
- "decreased number of material anatomical entity",
- "increased biological_process",
- "eukaryotic cell",
- "increased pigmentation",
- "ectoderm-derived structure phenotype",
- "skeleton",
- "organ phenotype",
+ "decreased length of digit",
+ "aplasia or hypoplasia of anatomical entity",
+ "anatomical entity length phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "skeletal element",
+ "Bone marrow hypocellularity",
+ "Abnormality of limbs",
+ "Abnormality of the eye",
+ "musculoskeletal system",
+ "autopodial extension",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity phenotype",
+ "appendage",
+ "digit plus metapodial segment",
+ "decreased size of the anatomical structure",
"Localized skin lesion",
- "Metazoa",
- "homeostatic process phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "face phenotype",
- "entire sense organ system",
- "eyeball of camera-type eye",
- "subdivision of organism along main body axis phenotype",
+ "Abnormal hand morphology",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased qualitatively developmental process",
+ "regulation of biological process phenotype",
"entity",
- "body proper",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "craniocervical region",
- "size of eyeball of camera-type eye phenotype",
- "sense organ",
- "craniofacial/craniocervical phenotype",
- "Abnormal eye morphology",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "Abnormality of head or neck",
- "skin of body morphology phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "head morphology phenotype",
- "eye",
- "forelimb morphology phenotype",
- "head phenotype",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "Anemia",
- "decreased size of the multicellular anatomical structure",
- "biogenic amine secreting cell",
- "simple eye phenotype",
- "organism subdivision phenotype",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
+ "subdivision of skeletal system",
+ "occurrent",
+ "organ",
+ "appendicular skeleton morphology phenotype",
"decreased size of the organ",
- "neutrophil",
- "orbital region phenotype",
- "structure with developmental contribution from neural crest",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "visual system",
- "decreased size of the eyeball of camera-type eye",
- "lateral structure phenotype",
- "Abnormality of the head",
- "Abnormality of skin pigmentation",
- "bone element phenotype",
+ "skeletal element phenotype",
+ "endochondral bone phenotype",
+ "Postnatal growth retardation",
+ "skeletal system phenotype",
+ "anatomical structure phenotype",
+ "bone of free limb or fin phenotype",
+ "decreased length of manual digit",
+ "limb morphology phenotype",
+ "organ phenotype",
+ "manual digit phenotype",
+ "pigmentation phenotype",
+ "Hypermelanotic macule",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "digit phenotype",
+ "appendage girdle complex",
+ "regulation of gene expression phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone cell",
+ "hemolymphoid system",
+ "immune system",
+ "system",
+ "bone marrow cell",
"Abnormality of the upper limb",
- "limb bone phenotype",
+ "limb",
"cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "decreased number of neutrophil",
- "manual digit plus metapodial segment",
- "arm",
- "skeleton of limb phenotype",
- "subdivision of organism along appendicular axis",
- "camera-type eye",
- "pectoral appendage",
- "digit 1 or 5",
- "vision/eye phenotype",
- "bone of appendage girdle complex",
- "camera-type eye phenotype",
- "digit 1 phenotype",
+ "non-connected functional system",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormality of the immune system",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "skeleton",
+ "immune system phenotype",
+ "embryo development",
+ "embryo development rate phenotype",
+ "Short thumb",
+ "Intrauterine growth retardation",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "multicellular organism development",
+ "regulation of cellular process phenotype",
+ "anatomical structure development",
+ "biological_process rate phenotype",
+ "decreased qualitatively multicellular organism development",
+ "decreased multicellular organismal process",
+ "developmental process",
+ "anatomical structure development phenotype",
+ "negative regulation of biosynthetic process",
+ "decreased qualitatively multicellular organismal process",
+ "decreased embryo development",
+ "increased pigmentation",
+ "increased biological_process in skin of body",
+ "Cafe-au-lait spot",
+ "Microphthalmia",
+ "Multiple cafe-au-lait spots",
+ "decreased size of the sense organ",
+ "skin of body morphology phenotype",
],
- "has_phenotype_count": 11,
+ "has_phenotype_count": 8,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0044325",
+ "id": "MONDO:0012186",
"category": "biolink:Disease",
- "name": "Fanconi anemia, complementation group W",
+ "name": "Fanconi anemia complementation group I",
"full_name": None,
"deprecated": None,
- "description": None,
- "xref": ["DOID:0060978", "MEDGEN:1621245", "OMIM:617784", "UMLS:C4521564"],
+ "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
+ "xref": [
+ "DOID:0111091",
+ "GARD:15448",
+ "MEDGEN:323016",
+ "MESH:C563802",
+ "NCIT:C129026",
+ "OMIM:609053",
+ "UMLS:C1836861",
+ ],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
- "synonym": ["FANCW", "Fanconi anemia, complementation group W"],
+ "synonym": [
+ "FANCI",
+ "Fanconi Anemia, complementation Group 1",
+ "Fanconi Anemia, complementation group type 1",
+ "Fanconi anaemia complementation group type I",
+ "Fanconi anemia complementation group I",
+ "Fanconi anemia complementation group type I",
+ "Fanconi anemia, complementation group I",
+ ],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001875",
+ "HP:0002984",
+ "HP:0002247",
+ "HP:0000543",
+ "HP:0001655",
+ "HP:0000325",
+ "HP:0000545",
+ "HP:0003974",
+ "HP:0001873",
+ "HP:0009778",
+ "HP:0001631",
+ "HP:0001511",
+ "HP:0000405",
+ "HP:0000470",
+ "HP:0009777",
+ "HP:0000483",
+ "HP:0000821",
+ "HP:0002949",
+ "HP:0030048",
+ "HP:0000252",
+ "HP:0000413",
+ "HP:0004325",
+ "HP:0034323",
+ "HP:0000568",
+ "HP:0002308",
+ "HP:0000609",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0000076",
+ "HP:0001643",
+ "HP:0005528",
+ "HP:0030680",
+ "HP:0000957",
+ "HP:0001903",
+ "HP:0001629",
+ "HP:0010034",
+ "HP:0012210",
+ "HP:0012506",
+ "HP:0000085",
+ "HP:0001274",
+ "HP:0004322",
+ "HP:0000089",
+ "HP:0000365",
+ "HP:0001331",
+ "HP:0005528",
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Hypoplasia of the radius",
+ "Duodenal atresia",
+ "Optic disc pallor",
+ "Patent foramen ovale",
+ "Triangular face",
+ "Myopia",
+ "Absent radius",
+ "Thrombocytopenia",
+ "Short thumb",
+ "Atrial septal defect",
+ "Intrauterine growth retardation",
+ "Conductive hearing impairment",
+ "Short neck",
+ "Absent thumb",
+ "Astigmatism",
+ "Hypothyroidism",
+ "Fused cervical vertebrae",
+ "Colpocephaly",
+ "Microcephaly",
+ "Atresia of the external auditory canal",
+ "Decreased body weight",
+ "Reduced circulating growth hormone concentration",
+ "Microphthalmia",
+ "Chiari malformation",
+ "Optic nerve hypoplasia",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Vesicoureteral reflux",
+ "Patent ductus arteriosus",
+ "Bone marrow hypocellularity",
+ "Abnormal cardiovascular system morphology",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Ventricular septal defect",
+ "Short 1st metacarpal",
+ "Abnormal renal morphology",
+ "Small pituitary gland",
+ "Horseshoe kidney",
+ "Agenesis of corpus callosum",
+ "Short stature",
+ "Renal hypoplasia",
+ "Hearing impairment",
+ "Absent septum pellucidum",
+ "Bone marrow hypocellularity",
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0008686",
+ "UBERON:0004714",
+ "UBERON:0000119",
+ "UPHENO:0025363",
+ "UPHENO:0025368",
+ "UPHENO:0009312",
+ "UBERON:0005401",
+ "UBERON:0011300",
+ "HP:0001331",
+ "UPHENO:0026588",
+ "UBERON:0000957",
+ "UBERON:0002020",
+ "UPHENO:0025921",
+ "UPHENO:0026263",
+ "UPHENO:0009136",
+ "UPHENO:0002921",
+ "UPHENO:0025610",
+ "UPHENO:0002564",
+ "UPHENO:0081210",
+ "HP:0008678",
+ "HP:0000002",
+ "UPHENO:0081423",
+ "HP:0004322",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
+ "UPHENO:0087750",
+ "UPHENO:0009064",
+ "UPHENO:0011553",
+ "UBERON:0000454",
+ "HP:0001274",
+ "UPHENO:0026388",
+ "UPHENO:0011576",
+ "UBERON:0003544",
+ "UBERON:0001869",
+ "HP:0033725",
+ "UPHENO:0009056",
+ "UPHENO:0008838",
+ "UPHENO:0011545",
+ "UPHENO:0085804",
+ "UPHENO:0085805",
+ "UPHENO:0008583",
+ "UPHENO:0011580",
+ "UPHENO:0002544",
+ "UPHENO:0002997",
+ "UPHENO:0008678",
+ "UPHENO:0008707",
+ "UPHENO:0087531",
+ "UPHENO:0087902",
+ "UBERON:0002336",
+ "UBERON:0005340",
+ "UBERON:0002473",
+ "UPHENO:0081562",
+ "UPHENO:0087415",
+ "UBERON:0019294",
+ "UPHENO:0011549",
+ "HP:0007370",
+ "UPHENO:0002800",
+ "UPHENO:0008622",
+ "UPHENO:0011557",
+ "UBERON:0002316",
+ "UBERON:0001018",
+ "UPHENO:0025935",
+ "UPHENO:0011515",
+ "UPHENO:0041465",
+ "HP:0000085",
+ "UPHENO:0076941",
+ "HP:0100542",
+ "HP:0000864",
+ "UPHENO:0068879",
+ "UBERON:0005156",
+ "UBERON:0003296",
+ "UPHENO:0069335",
+ "UPHENO:0068967",
+ "HP:0000078",
+ "UPHENO:0069370",
+ "UPHENO:0069190",
+ "UBERON:0000990",
+ "UBERON:0004092",
+ "HP:0012506",
+ "UBERON:0000007",
+ "UPHENO:0011938",
+ "UPHENO:0088065",
+ "UPHENO:0069067",
+ "UPHENO:0086735",
+ "UPHENO:0008598",
+ "HP:0010662",
+ "UPHENO:0002621",
+ "HP:0012503",
+ "UBERON:0003937",
+ "UBERON:0003133",
+ "HP:0010993",
+ "UPHENO:0087940",
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- "UBERON:0005177",
- "UBERON:0000475",
- "UBERON:0015203",
- "UBERON:0005172",
- "UBERON:0017672",
- "UPHENO:0004004",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0014244",
- "HP:0011844",
- "UPHENO:0075995",
- "UPHENO:0050121",
- "HP:0002060",
- "UPHENO:0003016",
- "UPHENO:0076812",
- "UPHENO:0005477",
- "GO:0140352",
+ "UPHENO:0002806",
+ "UPHENO:0008548",
+ "UBERON:0005173",
+ "UBERON:0010740",
+ "UBERON:0019207",
+ "UPHENO:0002642",
+ "UPHENO:0008925",
+ "UPHENO:0002634",
+ "UPHENO:0002603",
+ "UBERON:0001255",
+ "UBERON:0018707",
+ "UPHENO:0002437",
+ "UBERON:0000033",
+ "HP:0000076",
+ "UBERON:0009856",
+ "UBERON:0000477",
+ "UPHENO:0002377",
],
"has_phenotype_closure_label": [
- "Abnormal axial skeleton morphology",
- "Microcephaly",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of skull size",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "cranial skeletal system",
+ "number of anatomical enitites of type tissue phenotype",
+ "absent tissue in the multicellular organism",
+ "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
+ "Abnormal septum pellucidum morphology",
+ "absent septum pellucidum",
+ "lamina",
+ "gray matter",
+ "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
+ "absent lamina",
+ "lamina phenotype",
+ "absent ectoderm-derived structure in the brain ventricle",
+ "absent tissue",
+ "septum pellucidum phenotype",
+ "absent material anatomical entity in the brain ventricle",
+ "absent anatomical entity in the brain ventricle",
+ "gray matter of telencephalon",
+ "Renal hypoplasia",
+ "Renal hypoplasia/aplasia",
"kidney hypoplasia",
- "renal system morphology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the multicellular organism",
+ "size of multicellular organism phenotype",
+ "absent brain commissure",
+ "number of anatomical enitites of type axon tract phenotype",
+ "absent corpus callosum",
+ "Thin corpus callosum",
+ "cerebral subcortex",
+ "cerebral hemisphere morphology phenotype",
+ "number of anatomical enitites of type nervous system commissure phenotype",
+ "absent nervous system commissure",
+ "corpus callosum morphology phenotype",
+ "number of anatomical enitites of type intercerebral commissure phenotype",
+ "Aplasia/Hypoplasia of the corpus callosum",
+ "absent ectoderm-derived structure",
+ "number of anatomical enitites of type tract of brain phenotype",
+ "white matter",
+ "number of anatomical enitites of type commissure of telencephalon phenotype",
+ "tract of brain phenotype",
+ "absent anatomical entity in the nervous system",
+ "tract of brain",
+ "nervous system commissure",
+ "Abnormal cerebral white matter morphology",
+ "absent material anatomical entity in the brain",
+ "axon tract phenotype",
+ "commissure of telencephalon phenotype",
+ "absent neuron projection bundle",
+ "absent central nervous system cell part cluster",
+ "absent axon tract",
+ "absent commissure of telencephalon",
+ "Agenesis of corpus callosum",
+ "absent anatomical entity in the brain",
+ "cerebral hemisphere white matter",
+ "absent dorsal telencephalic commissure",
+ "brain commissure phenotype",
+ "Aplasia/Hypoplasia of the cerebral white matter",
+ "absent multi cell part structure",
+ "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
+ "absent anatomical entity in the central nervous system",
+ "white matter of forebrain",
+ "Abnormal corpus callosum morphology",
+ "number of anatomical enitites of type central nervous system cell part cluster phenotype",
+ "commissure of telencephalon",
+ "Abnormal cerebral subcortex morphology",
+ "number of anatomical enitites of type multi cell part structure phenotype",
+ "shape kidney",
+ "3-D shape anatomical entity",
+ "Abnormal localization of kidney",
+ "U-shaped anatomical entity",
+ "Horseshoe kidney",
+ "pituitary gland",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "reproductive gland morphology phenotype",
+ "reproductive structure",
+ "gland of diencephalon",
+ "reproductive system",
+ "hypothalamus-pituitary axis",
+ "decreased size of the gland",
+ "reproductive system phenotype",
+ "decreased size of the reproductive gland",
+ "reproductive organ",
+ "Abnormality of the diencephalon",
+ "reproductive organ phenotype",
+ "decreased size of the reproductive structure",
+ "Abnormal endocrine morphology",
+ "reproductive structure phenotype",
+ "size of pituitary gland phenotype",
+ "diencephalon morphology phenotype",
+ "reproductive system morphology phenotype",
+ "Small pituitary gland",
+ "Abnormality of the genital system",
+ "decreased size of the gland of diencephalon",
+ "Abnormal pituitary gland morphology",
+ "endocrine system morphology phenotype",
+ "reproductive gland phenotype",
+ "decreased size of the pituitary gland",
"kidney",
+ "kidney morphology phenotype",
+ "abdomen element phenotype",
+ "abdomen",
"kidney phenotype",
- "Renal hypoplasia",
- "Abnormality of the urinary system",
+ "axon tract",
+ "decreased size of the autopod endochondral element",
+ "decreased length of manual digit bone",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "decreased size of the phalanx endochondral element",
+ "manual digit bone phenotype",
+ "manual digit phalanx endochondral element phenotype",
+ "cell layer phenotype",
+ "Short phalanx of the thumb",
+ "Abnormal finger phalanx morphology",
+ "Abnormal metacarpal morphology",
+ "phalanx morphology phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "decreased length of limb long bone",
+ "decreased size of the autopod bone",
+ "manus bone phenotype",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "metapodium bone phenotype",
+ "decreased size of the forelimb long bone",
+ "metapodium bone 1",
+ "manual digitopodium bone",
+ "manual digit 1 phalanx",
+ "metapodium region",
+ "Abnormal 1st metacarpal morphology",
+ "phalanx phenotype",
+ "decreased size of the digitopodium bone",
+ "decreased length of manual digitopodium bone",
+ "autopod endochondral element",
+ "metacarpus skeleton",
+ "tissue phenotype",
+ "digit 1 digitopodial skeleton",
+ "skeleton of manual acropodium",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "decreased length of forelimb long bone",
+ "Abnormality of thumb phalanx",
+ "phalanx endochondral element",
+ "autopod bone",
+ "manual digit metacarpus endochondral element",
+ "manual digit 1 digitopodial skeleton",
+ "decreased length of phalanx",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "digitopodium bone phenotype",
+ "phalanx",
+ "digitopodium bone",
+ "manus bone",
+ "metacarpal bone",
+ "manual digit 1 metacarpus endochondral element",
+ "decreased length of metacarpal bone",
+ "manual digit 1 phalanx phenotype",
+ "phalanx endochondral element phenotype",
+ "acropodial skeleton",
+ "metapodium bone 1 phenotype",
+ "skeleton of digitopodium",
+ "individual digit of digitopodial skeleton",
+ "decreased length of manus bone",
+ "aplasia or hypoplasia of metacarpal bone",
+ "incomplete closing of the interventricular septum",
+ "interventricular septum",
+ "interventricular septum morphology phenotype",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "Anemia",
+ "Abnormal erythroid lineage cell morphology",
+ "erythrocyte morphology phenotype",
+ "erythroid lineage cell",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "Irregular hyperpigmentation",
+ "pigmentation",
+ "Abnormality of skin pigmentation",
+ "Hypermelanotic macule",
+ "Hyperpigmentation of the skin",
+ "skin of body morphology phenotype",
+ "pigmentation phenotype",
+ "Cafe-au-lait spot",
+ "increased biological_process in skin of body",
+ "integumental system",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Bone marrow hypocellularity",
+ "artery morphology phenotype",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the vasculature",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "blood vessel phenotype",
+ "coronary vessel morphology phenotype",
+ "incomplete closing of the vessel",
+ "incomplete closing of the heart blood vessel",
+ "vascular system morphology phenotype",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "anatomical cluster phenotype",
+ "great vessel of heart",
+ "trunk blood vessel phenotype",
+ "vasculature of organ",
+ "vasculature of trunk",
+ "heart blood vessel",
+ "arterial system",
+ "blood vessel",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "blood vasculature",
+ "incomplete closing of the artery",
+ "decreased size of the phalanx",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "conceptus",
+ "vasculature",
+ "coronary vessel",
+ "outflow tract",
+ "Patent ductus arteriosus",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "vasculature phenotype",
+ "decreased length of metapodium bone 1",
+ "ureter",
+ "upper urinary tract",
+ "genitourinary system phenotype",
+ "upper urinary tract phenotype",
+ "mesoderm-derived structure physiology phenotype",
"renal system",
- "compound organ phenotype",
- "Abnormal renal morphology",
- "cavitated compound organ",
- "midface hypoplasia",
- "face",
- "craniocervical region phenotype",
- "craniofacial/craniocervical phenotype",
- "face phenotype",
- "cell",
- "Abnormal cellular phenotype",
- "bone marrow",
- "bone cell",
- "hematopoietic cell",
- "Megakaryocyte dysplasia",
- "cell phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "Abnormal cell morphology",
+ "lower urinary tract",
+ "absent mesoderm-derived structure in the forelimb",
+ "appendage girdle complex",
+ "subdivision of head",
+ "absent bone of appendage girdle complex",
+ "diencephalon phenotype",
+ "Abnormal platelet morphology",
+ "absent organ",
+ "absent anatomical structure in the brain ventricle/choroid plexus",
+ "decreased size of the organ",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "Vertebral fusion",
+ "absent skeletal element in the limb",
+ "Abnormality of the thyroid gland",
+ "absent anatomical entity in the forelimb",
+ "absent endochondral bone in the limb",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "absent mesoderm-derived structure",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent anatomical entity in the brain ventricle/choroid plexus",
+ "absent anatomical structure in the forelimb",
+ "blood vessel morphology phenotype",
+ "absent endochondral element in the limb",
+ "pituitary gland phenotype",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "Aplasia involving bones of the upper limbs",
+ "decreased length of manual digit phalanx endochondral element",
+ "absent anatomical entity in the skeletal system",
+ "Abnormal cellular physiology",
+ "organ physiology phenotype",
+ "absent material anatomical entity",
"cerebellum morphology phenotype",
- "hindbrain phenotype",
- "formed regional part of brain",
- "segmental subdivision of hindbrain phenotype",
- "organ subunit",
- "malformed anatomical entity",
+ "cerebral hemisphere white matter morphology phenotype",
"Chiari malformation",
- "cerebellum phenotype",
- "Abnormal hindbrain morphology",
- "formed multi-tissue structure",
- "segmental subdivision of nervous system",
- "Cerebellar malformation",
- "Abnormal bone marrow cell morphology",
- "metencephalon morphology phenotype",
- "brain white matter phenotype",
- "brain white matter degeneration",
- "Abnormal periventricular white matter morphology",
- "cerebral hemisphere white matter degeneration",
- "brain white matter morphology phenotype",
- "telencephalon phenotype",
- "multi cell part structure degeneration",
- "white matter of forebrain degeneration",
- "Abnormal cerebral white matter morphology",
- "anatomical entity degeneration",
- "central nervous system cell part cluster degeneration",
- "white matter of telencephalon phenotype",
- "white matter of forebrain",
- "Atrophy/Degeneration affecting the central nervous system",
- "Abnormal cerebral subcortex morphology",
- "white matter of forebrain phenotype",
- "cerebral hemisphere morphology phenotype",
- "white matter",
- "white matter of telencephalon degeneration",
- "anatomical entity degeneration in central nervous system",
- "cerebral hemisphere white matter",
- "cerebral subcortex",
- "white matter degeneration",
- "brain white matter",
- "Abnormal cerebral morphology",
- "Hypopituitarism",
- "decreased nitrogen compound transport",
- "reproductive system morphology phenotype",
- "Abnormal forebrain morphology",
- "decreased qualitatively localization",
- "growth hormone secretion phenotype",
- "bodily fluid",
- "decreased establishment of localization",
- "decreased qualitatively nitrogen compound transport",
- "Abnormal circulating hormone concentration",
- "peptide transport phenotype",
- "gland",
- "genitourinary system",
- "cellular organisms",
- "establishment of localization",
- "Anterior hypopituitarism",
- "gland of diencephalon phenotype",
- "tissue",
- "diencephalon phenotype",
- "decreased qualitatively secretion",
- "decreased qualitatively signal release",
- "Eumetazoa",
- "telencephalon",
- "diencephalon",
- "nitrogen compound transport",
- "structure with developmental contribution from neural crest",
- "reproductive structure phenotype",
- "cellular process phenotype",
- "Abnormal megakaryocyte morphology",
- "Abnormality of the endocrine system",
- "cell communication",
- "Abnormality of the genitourinary system",
- "multi cell part structure phenotype",
+ "cardiac septum morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "agenesis of anatomical entity",
+ "decreased length of endochondral element",
+ "absent limb bone in the limb",
+ "Abnormality of the integument",
+ "cardiac atrium",
+ "absent forelimb bone in the forelimb",
+ "lateral structure physiology phenotype",
+ "decreased size of the structure with developmental contribution from neural crest",
"material anatomical entity physiology phenotype",
- "decreased hormone secretion",
- "root",
- "structure with developmental contribution from neural crest phenotype",
- "amide transport phenotype",
- "decreased secretion in pituitary gland",
- "biological_process in nervous system phenotype",
- "cerebral hemisphere",
- "growth hormone secretion",
- "decreased qualitatively biological_process in central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "chemical entity",
- "organism",
- "localization",
- "cellular process",
- "Abnormal pituitary gland morphology",
- "upper urinary tract",
- "decreased growth hormone secretion",
- "pituitary gland phenotype",
- "reproductive gland phenotype",
+ "absent anatomical structure in the skeletal system",
+ "duodenum",
+ "segment of autopod",
+ "lateral structure phenotype",
+ "decreased size of the manus bone",
+ "absent limb bone in the forelimb",
+ "absent forelimb bone",
+ "neural crest-derived structure, asymmetrically curved phenotype",
"reproductive gland",
- "forebrain",
- "decreased amide transport",
- "decreased qualitatively regulation of biological quality",
- "transport phenotype",
- "localization phenotype",
- "glandular system",
- "Abnormal radial ray morphology",
- "haemolymphatic fluid",
- "transport",
- "peptide secretion phenotype",
- "Abnormal endocrine physiology",
- "anatomical entity hypoplasia in face",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "regulation of biological process phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "absent cell layer",
+ "corpus callosum",
+ "subdivision of skeletal system",
+ "decreased length of manual digit 1 phalanx",
+ "absent arm bone in the forelimb",
+ "cardiac atrium morphology phenotype",
+ "circulatory organ",
+ "forelimb long bone phenotype",
+ "cardiac septum phenotype",
+ "interatrial septum",
+ "number of anatomical enitites of type corpus callosum phenotype",
+ "subdivision of head phenotype",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "incomplete closing of the anatomical structure",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
+ "integument",
+ "subdivision of skeletal system phenotype",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "incomplete closing of the interatrial septum",
+ "Abnormality of body height",
+ "decreased size of the mesoderm-derived structure",
"organism substance",
- "decreased qualitatively biological regulation",
- "gland morphology phenotype",
- "peptide secretion",
- "amide transport",
+ "absent multicellular anatomical structure in the brain ventricle",
+ "gray matter of forebrain",
+ "heart plus pericardium",
+ "septum phenotype",
+ "incomplete closing of the anatomical entity",
+ "absent long bone in the forelimb",
+ "manual digit 1 morphology phenotype",
+ "septum of telencephalon",
+ "cardiovascular system",
+ "septum",
+ "paired limb/fin segment",
+ "Colpocephaly",
+ "anatomical entity morphology in the heart phenotype",
+ "hematopoietic system phenotype",
+ "cranial nerve II morphology phenotype",
+ "Abnormality of head or neck",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "absent forelimb long bone in the forelimb",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "serotonin secreting cell",
+ "eyeball of camera-type eye",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "posterior segment of eyeball",
+ "All",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "abdomen element",
+ "homeostatic process phenotype",
+ "regional part of brain",
+ "Abnormal fundus morphology",
+ "Abnormal atrial septum morphology",
+ "decreased length of limb endochondral element",
+ "metencephalon morphology phenotype",
+ "cervical vertebra",
+ "anterior segment of eyeball morphology phenotype",
+ "Abnormal anterior eye segment morphology",
+ "limb phenotype",
+ "cardiovascular system morphology phenotype",
+ "fused anatomical entity and bony vertebral centrum",
+ "axial skeletal system",
+ "subdivision of vertebral column",
+ "absent manual digit",
+ "decreased length of manual digit 1 phalanx endochondral element",
+ "forelimb zeugopod bone",
+ "head phenotype",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "developmental process",
+ "negative regulation of metabolic process",
+ "Optic disc pallor",
+ "head morphology phenotype",
+ "forelimb skeleton",
"hormone secretion",
- "genitourinary system phenotype",
- "endocrine gland phenotype",
- "decreased hormone transport",
- "Abnormal growth hormone level",
- "signal release phenotype",
- "secretion phenotype",
- "reproductive organ phenotype",
- "blood",
- "Decreased response to growth hormone stimulation test",
- "decreased qualitatively secretion by cell",
- "endocrine system physiology phenotype",
- "endocrine gland morphology phenotype",
+ "Triangular face",
+ "incomplete closing of the blood vessel",
+ "myeloid cell",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "decreased size of the skeletal element",
+ "vertebral element",
+ "camera-type eye morphology phenotype",
+ "sense organ physiology phenotype",
+ "Atrial septal defect",
+ "tunica fibrosa of eyeball",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "body proper",
+ "Abnormal joint morphology",
+ "Abnormal optic disc morphology",
+ "brain ventricle",
+ "regional part of nervous system phenotype",
+ "systemic artery phenotype",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
+ "visual system",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "Abnormality of the nervous system",
+ "head",
+ "decreased size of the endocrine gland",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "cranial neuron projection bundle",
+ "negative regulation of macromolecule biosynthetic process",
"multi-tissue structure",
- "Abnormality of the genital system",
- "skeleton",
- "organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "trunk region element phenotype",
- "bone of free limb or fin phenotype",
- "decreased length of forelimb endochondral element",
- "musculature phenotype",
- "Short long bone",
- "arm bone phenotype",
+ "limb long bone phenotype",
+ "bodily fluid",
+ "simple eye",
+ "face morphology phenotype",
+ "duodenum phenotype",
+ "Abnormal eye morphology",
+ "absent tract of brain",
+ "subdivision of tube phenotype",
+ "closing of the multicellular anatomical structure",
+ "organ system subdivision",
+ "orbital region",
+ "Abnormal intestine morphology",
+ "optic disc",
+ "aplasia or hypoplasia of phalanx of manus",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "Abnormal digestive system morphology",
+ "skull phenotype",
+ "decreased system process",
+ "endoderm-derived structure atresia",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
+ "absent skeletal element in the forelimb",
+ "regulation of gene expression",
+ "digestive tract",
+ "anatomical system atresia",
+ "Abnormal ureter physiology",
+ "anatomical structure physiology phenotype",
+ "trunk",
+ "retina",
+ "sac phenotype",
"process",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "hindbrain morphology phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "cerebral hemisphere white matter morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of skeletal element",
+ "Gastrointestinal atresia",
+ "tube",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "Fused cervical vertebrae",
+ "Abnormality of the head",
+ "heart",
+ "anatomical conduit",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "anatomical structure morphology in the heart phenotype",
+ "Intestinal atresia",
+ "arm bone",
+ "Abnormal ventricular septum morphology",
+ "closing of the material anatomical entity",
+ "circulatory system",
+ "Abnormal small intestine morphology",
+ "organ part phenotype",
+ "decreased length of autopodial extension",
+ "closing of the anatomical entity",
+ "interatrial septum morphology phenotype",
+ "formed multi-tissue structure",
+ "alimentary part of gastrointestinal system phenotype",
+ "subdivision of organism along main body axis",
+ "Reduced circulating growth hormone concentration",
+ "small intestine morphology phenotype",
+ "multicellular organismal process phenotype",
+ "ureter physiology phenotype",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "metacarpus region",
+ "formed ectoderm-derived structure",
+ "Abnormality of the digestive system",
+ "intercerebral commissure phenotype",
+ "Abnormality of the upper limb",
+ "alimentary part of gastrointestinal system",
+ "Atresia of the external auditory canal",
+ "duodenum morphology phenotype",
+ "pelvic region of trunk",
+ "alimentary part of gastrointestinal system atresia",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "incomplete closing of the coronary vessel",
+ "nervous system process phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth",
+ "absent digit",
+ "absent arm bone",
+ "decreased length of forelimb bone",
"long bone phenotype",
- "paired limb/fin skeleton",
- "metencephalon",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "anatomical entity length phenotype",
- "zeugopod phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Eukaryota",
+ "negative regulation of cellular metabolic process",
+ "limb morphology phenotype",
+ "fused anatomical entity and vertebra",
+ "biological regulation phenotype",
+ "central nervous system cell part cluster",
+ "forebrain morphology phenotype",
+ "decreased length of forelimb endochondral element",
"absent anatomical structure",
- "decreased qualitatively hormone secretion",
- "decreased biological_process in multicellular organism",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "gland phenotype",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased peptide hormone secretion",
- "decreased size of the mesoderm-derived structure",
- "zeugopod",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "signaling",
- "cell-cell signaling",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "organ component layer",
- "mesoderm-derived structure phenotype",
- "decreased qualitatively peptide transport",
- "absent material anatomical entity",
- "Abnormal forearm morphology",
- "increased number of anatomical entity",
- "Absent thumb",
- "decreased qualitatively export from cell",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "decreased size of the endochondral bone",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "limb",
- "decreased qualitatively amide transport",
- "musculature",
- "absent manual digit",
- "spleen",
- "absent organism subdivision",
- "subdivision of skeleton",
- "radius endochondral element",
- "regulation of hormone levels phenotype",
+ "lateral structure",
+ "absent limb long bone in the forelimb",
+ "intestine morphology phenotype",
+ "arm",
+ "number of leukocyte phenotype",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "cellular organisms",
+ "external acoustic meatus phenotype",
+ "Abnormal neutrophil count",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "compound organ physiology phenotype",
"decreased size of the multicellular anatomical structure",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "decreased qualitatively hormone transport",
- "hemopoietic organ morphology phenotype",
- "upper limb segment phenotype",
- "biological_process in central nervous system phenotype",
- "biological_process phenotype",
- "gland of diencephalon",
- "absent autopodial extension",
- "radius bone morphology phenotype",
- "head phenotype",
- "anatomical entity",
- "paired limb/fin phenotype",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision phenotype",
- "decreased biological_process in pituitary gland",
- "increased number of mesoderm-derived structure",
+ "organism",
+ "irregular bone",
+ "decreased length of bone of pectoral complex",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "Abnormal posterior eye segment morphology",
+ "forelimb morphology phenotype",
+ "Abnormality of the middle ear",
+ "limb segment",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "manual digitopodium region",
+ "decreased length of digit",
+ "hematopoietic cell",
+ "eyeball of camera-type eye phenotype",
+ "decreased length of digit 1 or 5",
+ "regulation of biological quality phenotype",
+ "incomplete closing of the cardiac septum",
+ "Astigmatism",
+ "organ subunit",
+ "anatomical structure",
+ "absent material anatomical entity in the brain ventricle/choroid plexus",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "radius bone hypoplasia",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "anatomical entity morphology phenotype",
+ "decreased length of endochondral bone",
+ "digestive system",
+ "decreased length of long bone",
+ "curved anatomical entity",
+ "Abnormality of the gastrointestinal tract",
+ "programmed DNA elimination",
+ "arm bone phenotype",
"anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the spleen",
- "decreased size of the long bone",
+ "bone of free limb or fin phenotype",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "vertebra",
+ "paired limb/fin phenotype",
+ "tissue",
+ "forelimb zeugopod bone morphology phenotype",
+ "concave 3-D shape anatomical entity",
+ "absent bone of free limb or fin in the forelimb",
+ "continuant",
+ "multicellular anatomical structure phenotype",
+ "decreased number of granulocyte",
+ "neutrophil",
+ "Abnormal optic nerve morphology",
+ "decreased size of the forelimb endochondral element",
+ "independent continuant",
+ "Abnormal granulocyte morphology",
+ "subdivision of tube atresia",
+ "absent limb long bone",
+ "digestive system element phenotype",
+ "anatomical entity atresia",
+ "telencephalic ventricle",
+ "Abnormal retinal morphology",
+ "decreased length of material anatomical entity",
+ "sensory perception of mechanical stimulus",
+ "digestive system morphology phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "absent bone of pectoral complex in the limb",
+ "decreased number of myeloid cell",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "endoderm-derived structure",
+ "Abnormal morphology of the great vessels",
+ "pectoral complex",
+ "Short metacarpal",
+ "Abnormality of globe size",
+ "decreased number of hematopoietic cell",
+ "bone element",
+ "leukocyte",
+ "material entity",
+ "long bone",
+ "decreased sensory perception of mechanical stimulus",
+ "negative regulation of biosynthetic process",
+ "decreased multicellular organism development",
+ "hemolymphoid system",
+ "multi-limb segment region phenotype",
+ "absent bone element",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "cellular process",
+ "musculature phenotype",
+ "sense organ",
+ "decreased length of phalanx endochondral element",
+ "absent material anatomical entity in the forelimb",
+ "Neutropenia",
+ "decreased height of the anatomical entity",
"absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "material anatomical entity degeneration",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "white matter of telencephalon",
- "Abnormal diencephalon morphology",
- "lateral structure",
+ "Abnormality of the eye",
+ "hindbrain",
+ "absent bone of appendage girdle complex in the limb",
+ "vertebra phenotype",
+ "renal system morphology phenotype",
+ "cardiac ventricle morphology phenotype",
+ "Abnormal granulocyte count",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "Short 1st metacarpal",
+ "decreased size of the anatomical entity",
+ "sensory perception of sound",
+ "Abnormal forearm bone morphology",
+ "bone of free limb or fin",
+ "main body axis",
+ "myeloid leukocyte phenotype",
+ "increased qualitatively biological_process",
+ "forebrain",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "axon tract morphology phenotype",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "ocular fundus",
+ "neutrophil phenotype",
+ "organism subdivision",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "Phenotypic abnormality",
+ "myeloid leukocyte",
+ "limb endochondral element phenotype",
+ "granulocyte",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "immune system morphology phenotype",
+ "dorsal telencephalic commissure",
"skeletal system phenotype",
- "Growth abnormality",
- "megakaryocyte",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "appendage phenotype",
+ "dorsal telencephalic commissure morphology phenotype",
"digit plus metapodial segment",
- "decreased length of organ",
- "Abnormal small intestine morphology",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "Abnormal spleen morphology",
- "Abnormal skeletal morphology",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "transport",
+ "absent limb bone",
+ "limb endochondral element",
+ "phenotype",
+ "delayed growth",
+ "Abnormal hindbrain morphology",
+ "Abnormal cell morphology",
+ "closing of the ectoderm-derived structure",
+ "simple eye physiology phenotype",
+ "subdivision of digestive tract",
+ "fused skeletal joint and anatomical entity",
+ "number of anatomical enitites of type lamina phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "cell layer",
+ "viscus",
+ "pelvic region element phenotype",
+ "Short forearm",
+ "nitrogen compound transport phenotype",
+ "bone of dorsum",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "anatomical conduit atresia",
+ "decreased length of digitopodium bone",
+ "regulation of cellular metabolic process phenotype",
+ "decreased number of cell",
"decreased length of anatomical entity",
- "alimentary part of gastrointestinal system atresia",
- "decreased developmental process",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "number of anatomical enitites of type material anatomical entity phenotype",
"bone of pectoral complex",
- "formed multicellular anatomical structure",
- "decreased biological regulation",
- "increased size of the ventricle of nervous system",
- "digestive system",
- "increased number of abdominal segment element",
- "establishment of localization phenotype",
- "decreased length of bone element",
- "skeletal element phenotype",
- "appendage girdle complex",
- "subdivision of tube",
- "Abnormality of the upper urinary tract",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "secretion by cell",
- "forelimb zeugopod skeleton",
- "digit 1 or 5",
- "forelimb",
- "increased number of abdominal viscera",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "white matter phenotype",
- "segment of manus",
- "organ part",
- "forebrain morphology phenotype",
- "appendicular skeleton",
- "Abnormality of the head",
- "multi cell part structure",
- "Abnormal gastrointestinal tract morphology",
- "anatomical entity morphology in the pectoral complex phenotype",
- "intestine morphology phenotype",
+ "endocrine system",
+ "immune system",
+ "chorioretinal region",
+ "structure with developmental contribution from neural crest phenotype",
+ "material anatomical entity",
+ "nucleate cell",
+ "Abnormal appendicular skeleton morphology",
+ "thyroid gland",
+ "Abnormal myeloid leukocyte morphology",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent multicellular anatomical structure",
+ "endochondral bone phenotype",
+ "Abnormality of the ear",
+ "cardiac septum",
+ "Cerebellar malformation",
+ "anucleate cell",
+ "shape of continuant phenotype",
+ "tube phenotype",
+ "Opisthokonta",
+ "eye",
+ "compound organ",
"skeleton of pectoral complex",
- "decreased length of anatomical structure",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "cardiovascular system",
- "midface phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "increased number of hemopoietic organ",
- "closing of the subdivision of digestive tract",
- "Neurodegeneration",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "thoracic cavity element",
+ "retina morphology phenotype",
+ "Thrombocytopenia",
+ "great vessel of heart morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "anatomical structure mass phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical entity",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "Abnormality of refraction",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "peptide secretion",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "sensory perception of mechanical stimulus phenotype",
+ "disconnected anatomical group",
+ "multicellular organism",
+ "skeleton",
+ "trunk blood vessel",
+ "absent radius endochondral element",
+ "Eumetazoa",
+ "number of hematopoietic cell phenotype",
+ "face phenotype",
+ "Abnormality of the bladder",
+ "closing of the anatomical structure",
+ "dorsum",
+ "Abnormal leukocyte count",
+ "decreased functionality of the endocrine gland",
+ "Abnormal duodenum morphology",
+ "cavitated compound organ",
+ "incomplete closing of the septum",
+ "motile cell",
+ "metacarpal bone phenotype",
+ "skeletal system",
+ "sensory system",
+ "cervical vertebra phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "multicellular organism morphology phenotype",
+ "Abnormal cellular immune system morphology",
+ "eye phenotype",
+ "urinary bladder physiology phenotype",
+ "urinary bladder phenotype",
+ "absent intercerebral commissure",
+ "system",
+ "regulation of gene expression phenotype",
+ "decreased size of the limb long bone",
+ "Abnormal cardiac atrium morphology",
+ "bone marrow",
+ "fused vertebra and bony vertebral centrum",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "Microcephaly",
+ "regulation of metabolic process phenotype",
+ "decreased number of anatomical structure",
"material anatomical entity atresia",
- "duodenum phenotype",
- "reproductive gland morphology phenotype",
- "brain morphology phenotype",
+ "bone cell",
+ "skeletal system morphology phenotype",
+ "fused cervical vertebra and anatomical entity",
+ "Patent foramen ovale",
+ "heart morphology phenotype",
+ "decreased functionality of the structure with developmental contribution from neural crest",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "granulocyte morphology phenotype",
+ "taxon specific phenotype",
+ "Abnormal renal morphology",
+ "radius endochondral element",
+ "zeugopod",
+ "anatomical system phenotype",
+ "regulation of biosynthetic process phenotype",
+ "skeletal element",
+ "metapodium bone",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
+ "cornea morphology phenotype",
+ "duodenum atresia",
+ "Localized skin lesion",
+ "musculature",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "decreased number of neutrophil",
+ "digestive system phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormal cellular phenotype",
+ "multi-limb segment region",
+ "ventricle of nervous system",
+ "absent organ in the forelimb",
+ "decreased size of the bone element",
+ "decreased length of autopod bone",
+ "subdivision of digestive tract atresia",
+ "quality",
+ "central nervous system cell part cluster phenotype",
+ "anatomical collection phenotype",
+ "vessel",
+ "decreased size of the sense organ",
+ "anatomical system",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "increased pigmentation",
+ "Abnormal skeletal morphology",
+ "forelimb",
+ "decreased number of anatomical entity",
+ "Abnormal forebrain morphology",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "organ system subdivision phenotype",
+ "simple eye phenotype",
+ "growth hormone secretion phenotype",
+ "gland of diencephalon phenotype",
+ "anatomical wall",
+ "decreased length of autopod endochondral element",
+ "absent bone of free limb or fin",
+ "bone of appendage girdle complex",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "secretion phenotype",
+ "structure with developmental contribution from neural crest",
+ "Abnormal cerebral ventricle morphology",
+ "formed regional part of brain",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormality of body weight",
+ "mesoderm-derived structure",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the hand",
+ "absent forelimb endochondral element",
"skeleton phenotype",
- "intestine atresia",
- "phenotype",
- "decreased length of forelimb bone",
- "digestive system phenotype",
- "Upper limb undergrowth",
- "quality",
- "Leukoencephalopathy",
- "decreased size of the bone of pectoral complex",
- "increased number of spleen",
- "forelimb morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "number of anatomical enitites of type abdomen element phenotype",
- "anatomical entity phenotype",
- "closing of the material anatomical entity",
- "embryo development phenotype",
- "musculature of body",
- "duodenum morphology phenotype",
- "limb segment",
- "Abnormality of the face",
- "continuant",
- "anatomical conduit",
- "closing of the organ part",
- "manual digit plus metapodial segment",
- "pectoral appendage skeleton",
- "telencephalon morphology phenotype",
- "pituitary gland morphology phenotype",
- "ectoderm-derived structure degeneration",
- "decreased multicellular organismal process",
- "taxon specific phenotype",
- "forelimb phenotype",
- "Abnormal brain morphology",
- "decreased secretion by cell",
- "adenohypophysis phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "limb phenotype",
+ "Hypoplasia of the radius",
+ "decreased size of the digit",
+ "zeugopodial skeleton",
+ "aplasia or hypoplasia of anatomical entity",
+ "limb long bone",
+ "forelimb bone",
+ "absent anatomical structure in the brain ventricle",
+ "camera-type eye",
+ "Abnormality of the orbital region",
+ "decreased length of skeletal element",
+ "absent multicellular anatomical structure in the brain",
+ "absent forelimb endochondral element in the forelimb",
+ "endocrine gland physiology phenotype",
+ "entire sense organ system",
+ "absent bone of pectoral complex",
+ "asymmetrically curved cornea",
+ "Synostosis of joints",
+ "Aplasia involving bones of the extremities",
"nervous system phenotype",
- "formed ectoderm-derived structure",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "material entity",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "organ",
- "brain phenotype",
+ "endocrine gland morphology phenotype",
+ "Macule",
+ "anatomical collection",
+ "cranial nerve II",
+ "regulation of macromolecule metabolic process phenotype",
+ "Aplasia involving forearm bones",
"skeleton of limb",
- "digestive tract",
- "anatomical structure degeneration",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "radius bone hypoplasia",
- "anatomical structure",
- "hemopoietic organ",
- "small intestine",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "digestive system element",
- "formed anatomical structure",
- "All",
- "subdivision of tube phenotype",
- "limb bone",
- "midface morphology phenotype",
- "pectoral complex",
- "Myelodysplasia",
- "alimentary part of gastrointestinal system phenotype",
- "subdivision of digestive tract",
- "body proper",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "brain ventricle/choroid plexus phenotype",
- "increased number of multicellular anatomical structure in the abdomen",
- "multicellular organism phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "decreased length of bone of pectoral complex",
- "hypothalamus-pituitary axis",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "increased number of material anatomical entity in the abdomen",
- "decreased length of material anatomical entity",
- "signal release",
- "decreased size of the forelimb endochondral element",
- "secretion by cell phenotype",
- "subdivision of digestive tract phenotype",
- "tube",
- "regulation of biological quality phenotype",
- "autopodial extension phenotype",
- "musculature of body phenotype",
- "decreased qualitatively regulation of hormone levels",
- "forelimb zeugopod bone hypoplasia",
- "absent material anatomical entity in the limb",
- "Abnormal cerebellum morphology",
- "organ subunit phenotype",
- "export from cell",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "head morphology phenotype",
- "immune system phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "segmental subdivision of nervous system phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "arm",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "increased number of anatomical structure",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased length of long bone",
- "decreased qualitatively biological_process",
- "Abnormal cerebral ventricle morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "tube phenotype",
+ "Abnormality of the urinary system",
"closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "regional part of brain phenotype",
- "biological regulation",
- "anatomical system atresia",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "specifically dependent continuant",
- "closing of the anatomical entity",
- "aplasia or hypoplasia of telencephalon",
- "Abnormal metencephalon morphology",
- "aplasia or hypoplasia of radius bone",
- "Intrauterine growth retardation",
- "brain ventricle/choroid plexus",
- "pituitary gland",
- "decreased size of the skeletal element",
- "duodenum atresia",
- "multicellular organism",
- "embryo development",
- "Abnormality of the digestive system",
- "decreased length of limb endochondral element",
- "Phenotypic abnormality",
- "forelimb long bone",
- "closing of the anatomical system",
- "Abnormal midface morphology",
- "increased number of immune organ",
+ "neck morphology phenotype",
+ "cardiovascular system phenotype",
+ "manual digit phalanx endochondral element",
+ "photoreceptor array",
+ "Abnormality of the immune system",
+ "paired limb/fin skeleton",
+ "Abnormal nervous system physiology",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "number of anatomical enitites of type brain commissure phenotype",
+ "forelimb endochondral element",
+ "limb bone phenotype",
+ "secretory cell",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "decreased size of the bone of pectoral complex",
+ "formed regional part of nervous system",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "phalanx of manus phenotype",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of anatomical structure",
+ "absent bone element in the forelimb",
+ "ocular surface region morphology phenotype",
+ "white matter of telencephalon",
"decreased size of the limb bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "mesoderm-derived structure phenotype",
+ "external ear",
"decreased length of bone of appendage girdle complex",
- "multicellular anatomical structure",
- "long bone morphology phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Midface retrusion",
- "bone element",
- "pectoral appendage",
- "Abnormality of the vasculature",
- "central nervous system cell part cluster",
- "pectoral appendage skeleton phenotype",
- "lymphoid system phenotype",
- "ventricle of nervous system phenotype",
- "closing of the multicellular anatomical structure",
- "skeleton of manus",
- "alimentary part of gastrointestinal system",
- "biological_process rate in brain phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "neoplasm phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "zeugopodial skeleton",
- "Intestinal atresia",
- "anatomical system",
- "nitrogen compound transport phenotype",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "skeletal system morphology phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "cerebral hemisphere white matter phenotype",
- "small intestine phenotype",
- "Duodenal atresia",
- "digestive system element phenotype",
- "organ part phenotype",
- "Abnormal limb bone morphology",
- "Neoplasm by anatomical site",
- "hormone transport",
- "Abnormality of the skeletal system",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "decreased export from cell",
- "immune organ phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "limb bone phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "Hematological neoplasm",
- "postcranial axial skeleton",
- "organ system subdivision",
- "viscus",
- "diencephalon morphology phenotype",
- "decreased size of the bone element",
- "abdominal viscera phenotype",
+ "aplastic forelimb zeugopod bone",
+ "glandular system",
+ "subdivision of trunk",
+ "Abnormal thumb morphology",
+ "fused anatomical entity and anatomical entity",
+ "decreased size of the long bone",
+ "Absent forearm bone",
+ "decreased size of the material anatomical entity",
+ "forelimb zeugopod bone hypoplasia",
+ "Abnormal cerebellum morphology",
+ "anterior region of body",
+ "decreased length of manual digit 1",
"endochondral bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
- "formed regional part of nervous system",
- "spleen phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased length of forelimb zeugopod bone",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "agenesis of anatomical entity",
+ "endochondral element phenotype",
+ "subdivision of skeleton",
+ "autopod bone phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "decreased size of the autopodial extension",
+ "manus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "sensory perception",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "digestive system element",
+ "decreased length of multicellular anatomical structure",
+ "radius bone phenotype",
+ "decreased length of mesoderm-derived structure",
+ "formed material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "Abnormality of the curvature of the cornea",
+ "limb",
+ "material anatomical entity phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal morphology of the radius",
"decreased size of the limb endochondral element",
+ "acropodium region",
+ "signal release phenotype",
+ "anatomical structure atresia",
+ "organ part atresia",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "multi cell part structure",
+ "limb long bone morphology phenotype",
+ "aplasia or hypoplasia of corpus callosum",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "Abnormality of the kidney",
+ "orbital region phenotype",
+ "appendage phenotype",
+ "organism subdivision phenotype",
+ "forelimb bone phenotype",
+ "sense organ phenotype",
+ "localization phenotype",
+ "decreased size of the forelimb bone",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "phalanx of manus",
+ "number of anatomical enitites of type bone element phenotype",
+ "decreased size of the bone of appendage girdle complex",
"anatomical entity hypoplasia",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of limbs",
+ "endochondral element",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "appendicular skeletal system",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormality of the cervical spine",
+ "Upper limb undergrowth",
+ "Abnormal immune system morphology",
+ "Abnormality of thrombocytes",
+ "manual digitopodium bone phenotype",
+ "limb skeleton subdivision",
+ "absent material anatomical entity in the skeletal system",
+ "skull",
+ "Abnormal facial shape",
+ "root",
+ "incomplete closing of the trunk blood vessel",
+ "decreased multicellular organismal process",
+ "ectoderm-derived structure atresia",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "appendage",
+ "bone of pectoral complex morphology phenotype",
+ "decreased size of the anatomical structure",
+ "organ",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "appendicular skeleton morphology phenotype",
+ "bone of appendage girdle complex phenotype",
+ "decreased vibrational conductance of sound to the inner ear",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
+ "fused anatomical entity and skeletal joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "absent limb endochondral element",
+ "bone element phenotype",
+ "vestibulo-auditory system",
+ "endoderm-derived structure physiology phenotype",
+ "material anatomical entity morphology in the heart phenotype",
+ "absent limb endochondral element in the limb",
+ "neuron projection bundle",
+ "absent endochondral bone in the forelimb",
+ "absent material anatomical entity in the multicellular organism",
+ "sac",
+ "formed cerebellum",
+ "autopod region phenotype",
+ "absent radius bone in the forelimb",
+ "aplastic anatomical entity",
+ "nitrogen compound transport",
+ "malformed anatomical entity",
+ "absent forelimb endochondral element in the limb",
+ "embryo development rate phenotype",
+ "absent long bone",
+ "absent material anatomical entity in the limb",
+ "absent bone element in the limb",
+ "decreased size of the reproductive organ",
+ "camera-type eye physiology phenotype",
+ "Absent radius",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal size of pituitary gland",
+ "Growth abnormality",
+ "platelet",
+ "pelvic region element",
+ "Abnormal heart morphology",
+ "platelet phenotype",
+ "middle ear",
+ "number of platelet phenotype",
"regulation of biological process",
+ "decreased number of platelet",
+ "absent organ in the limb",
+ "Abnormal platelet count",
+ "Short finger",
+ "negative regulation of metabolic process phenotype",
+ "decreased size of the endochondral bone",
+ "aplasia or hypoplasia of manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "cornea, curved phenotype",
+ "cervical region of vertebral column",
+ "articulation",
+ "autopodial skeleton",
+ "fused vertebra and anatomical entity",
+ "digit 1 or 5",
+ "absent endochondral element",
+ "segmental subdivision of hindbrain",
"manual digit",
- "paired limb/fin skeleton phenotype",
- "skeletal element",
- "musculoskeletal system",
- "Abnormality of the gastrointestinal tract",
- "digestive system morphology phenotype",
- "anatomical structure atresia",
- "skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormality of the hypothalamus-pituitary axis",
- "ventricular system of brain",
- "aplasia or hypoplasia of skeleton",
- "decreased cellular process",
- "subdivision of skeletal system phenotype",
- "midface",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "decreased length of organism subdivision",
+ "gland phenotype",
+ "brain white matter morphology phenotype",
+ "decreased size of the organism subdivision",
+ "thyroid gland physiology phenotype",
+ "manus morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "digitopodium region",
+ "manual digit 1",
+ "artery phenotype",
+ "autopodial extension",
+ "Decreased body weight",
+ "metacarpal bone of digit 1 morphology phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "pectoral appendage skeleton",
+ "regulation of metabolic process",
+ "nervous system commissure phenotype",
+ "metacarpal bone of digit 1",
+ "Aplasia/Hypoplasia of fingers",
+ "organic substance transport",
"digit 1",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "absent multicellular anatomical structure in the skeletal system",
+ "decreased length of manual digit",
+ "viscus phenotype",
+ "regional part of nervous system",
+ "closing of the endoderm-derived structure",
+ "Aplasia/Hypoplasia of the thumb",
+ "septum pellucidum",
+ "Aplasia/hypoplasia involving bones of the hand",
"Abnormal digit morphology",
- "bone of pectoral complex phenotype",
- "decreased length of endochondral element",
- "system",
- "lateral structure phenotype",
- "anatomical collection phenotype",
- "arm phenotype",
- "central nervous system cell part cluster phenotype",
- "Neoplasm",
- "increased size of the anatomical entity",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "segmental subdivision of hindbrain",
- "trunk",
- "hemolymphoid system",
- "hematopoietic system",
- "anatomical cluster",
- "regulation of biological quality",
- "Growth delay",
- "biological_process",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "decreased transport",
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "irregular bone phenotype",
+ "autopodial extension phenotype",
+ "vertebral column phenotype",
+ "Abnormality of joint mobility",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "decreased developmental process",
+ "amide transport",
+ "Short thumb",
+ "absent bone of free limb or fin in the limb",
+ "Abnormal myeloid cell morphology",
+ "segmental subdivision of nervous system",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "decreased length of manual digit 1 or 5",
+ "arterial blood vessel",
+ "anatomical structure development",
+ "appendicular skeleton",
+ "Short digit",
+ "autopod endochondral element phenotype",
+ "autopod region morphology phenotype",
+ "decreased length of digit 1",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "Absent septum pellucidum",
+ "embryo development phenotype",
+ "Abnormality of the ureter",
+ "systemic artery",
"delayed biological_process",
+ "brain gray matter",
+ "embryo development",
"hypothalamus-pituitary axis phenotype",
- "decreased length of endochondral bone",
- "decreased qualitatively establishment of localization",
- "Short forearm",
+ "decreased functionality of the gland",
+ "decreased qualitatively developmental process",
+ "decreased functionality of the multicellular anatomical structure",
+ "Intrauterine growth retardation",
+ "absent multicellular anatomical structure in the forelimb",
+ "neuron projection bundle phenotype",
+ "decreased qualitatively embryo development",
+ "metacarpal bone morphology phenotype",
+ "Abnormal ear physiology",
+ "decreased qualitatively anatomical structure development",
+ "Growth delay",
+ "multicellular organism development",
+ "developmental process phenotype",
+ "external acoustic meatus atresia",
+ "radius bone",
"growth phenotype",
- "delayed growth",
- "subdivision of head",
- "developmental process rate phenotype",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased qualitatively multicellular organismal process",
- "Aplasia/Hypoplasia of the cerebrum",
- "decreased multicellular organism development",
- "decreased biological_process",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "Abnormality of the endocrine system",
+ "occurrent",
+ "middle ear phenotype",
+ "Myopia",
"anatomical structure development phenotype",
- "multicellular organismal process",
- "hindbrain",
- "secretion",
- "developmental process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
+ "Abnormality of the skin",
"biological_process rate phenotype",
- "multicellular organismal process phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organism development phenotype",
+ "absent anatomical structure in the limb",
+ "decreased qualitatively multicellular organismal process",
+ "Hearing impairment",
+ "limb bone morphology phenotype",
+ "nervous system process",
+ "number of myeloid cell phenotype",
+ "ear morphology phenotype",
+ "multi organ part structure physiology phenotype",
+ "decreased qualitatively nervous system process",
+ "digit 1 phenotype",
+ "multi organ part structure",
+ "face",
+ "decreased functionality of the thyroid gland",
+ "ear physiology phenotype",
+ "multi organ part structure phenotype",
+ "Conductive hearing impairment",
+ "middle ear physiology phenotype",
+ "system process",
+ "sensory perception phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "decreased length of phalanx of manus",
+ "decreased qualitatively system process",
+ "decreased sensory perception of sound",
+ "nervous system",
+ "anatomical system physiology phenotype",
+ "Abnormal ear morphology",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "absent organism subdivision in the multicellular organism",
+ "ductus arteriosus",
+ "sensory perception of sound phenotype",
+ "system process phenotype",
+ "decreased nervous system process",
+ "subdivision of organism along main body axis phenotype",
+ "cervical vertebra endochondral element phenotype",
+ "subdivision of tube",
+ "establishment of localization",
+ "cell-cell signaling",
+ "increased pigmentation in skin of body",
+ "ductus arteriosus morphology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "manual digit bone",
+ "decreased sensory perception",
+ "developmental process rate phenotype",
+ "closing of the anatomical conduit",
+ "Functional abnormality of the bladder",
+ "ear",
+ "gland morphology phenotype",
+ "neck bone phenotype",
+ "metapodial skeleton",
+ "negative regulation of cellular biosynthetic process",
+ "haemolymphatic fluid",
+ "bone of dorsum phenotype",
+ "dorsal part of neck",
+ "Short stature",
+ "Abnormality of the vertebral column",
+ "postcranial axial skeleton",
+ "protein-containing material entity",
+ "Abnormal neck morphology",
+ "optic disc morphology phenotype",
+ "negative regulation of gene expression",
+ "dorsal region element phenotype",
+ "neck phenotype",
+ "Abnormality of the neck",
+ "trunk or cervical vertebra",
"Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "formed material anatomical entity",
- "Abnormal response to endocrine stimulation test",
- "decreased qualitatively embryo development",
- "decreased qualitatively multicellular organism development",
- "decreased secretion",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormal endocrine morphology",
- "decreased embryo development",
- "increased number of viscus",
- "intestine phenotype",
- "increased number of organ",
- "decreased anatomical structure development",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "excretory system",
- "cerebellum",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "reproductive system",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "decreased qualitatively developmental process",
- "organism subdivision",
+ "dorsal region element",
+ "Abnormal limb bone morphology",
+ "decreased length of neck",
"central nervous system morphology phenotype",
- "increased size of the brain ventricle",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "decreased length of limb bone",
- "decreased localization",
- "ventricle of nervous system",
- "central nervous system",
- "decreased qualitatively transport",
+ "cervical vertebra endochondral element",
+ "cervical region",
+ "Abnormal axial skeleton morphology",
+ "vertebral column",
+ "postcranial axial skeletal system",
+ "vibrational conductance of sound to the inner ear",
+ "bladder organ physiology phenotype",
+ "neck",
+ "vertebral element phenotype",
+ "aplastic manual digit 1",
+ "absent organism subdivision",
+ "diencephalon",
+ "absent autopodial extension",
+ "organ part",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "U-shaped kidney",
+ "skeleton of manual digitopodium",
+ "Absent thumb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "shape anatomical entity",
+ "ventricular system of brain",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal pelvis/ureter",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "cornea",
+ "anterior segment of eyeball",
+ "shape cornea",
+ "Abnormal eye physiology",
+ "multicellular organism development phenotype",
+ "asymmetrically curved anatomical entity",
+ "curvature anatomical entity",
+ "manual digit morphology in the manus phenotype",
+ "neural crest-derived structure phenotype",
+ "fused vertebra and vertebra",
+ "neural crest-derived structure, curved phenotype",
+ "neck bone",
+ "intestine atresia",
"ventricular system of central nervous system",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "Abnormality of the lymphatic system",
- "Abnormality of the anterior pituitary",
- "anatomical wall phenotype",
- "increased size of the anatomical structure",
- "anatomical collection",
- "increased size of the organ part",
- "Polysplenia",
- "subdivision of head phenotype",
+ "cornea phenotype",
+ "Decreased head circumference",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "ocular surface region",
+ "brain morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "anatomical structure, curved phenotype",
+ "Hypothyroidism",
+ "interatrial septum perforation",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "decreased functionality of the anatomical entity",
+ "decreased functionality of the material anatomical entity",
+ "Abnormality of thyroid physiology",
+ "decreased functionality of the endoderm-derived structure",
+ "Abnormal cornea morphology",
+ "gland",
+ "decreased functionality of the organ",
+ "thyroid gland phenotype",
+ "gland physiology phenotype",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "absent radius bone",
+ "cranial skeletal system",
+ "anatomical entity dysfunction in independent continuant",
+ "Duodenal atresia",
+ "Abnormality of chromosome stability",
+ "cervical vertebra morphology phenotype",
+ "axial skeleton plus cranial skeleton morphology phenotype",
+ "neural crest-derived structure",
+ "dorsal part of neck morphology phenotype",
+ "skeletal joint",
+ "articulation phenotype",
+ "Abnormal joint physiology",
+ "decreased length of manual digit 1 metacarpus endochondral element",
+ "number of anatomical enitites of type organ phenotype",
+ "fused skeletal joint and skeletal joint",
+ "vertebra morphology phenotype",
+ "Abnormal vertebral morphology",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "negative regulation of biological process",
+ "fused anatomical entity and cervical vertebra",
+ "Abnormal musculoskeletal physiology",
+ "skeletal joint phenotype",
+ "skeletal joint morphology phenotype",
+ "absent forelimb zeugopod bone",
+ "Vertebral segmentation defect",
+ "decreased embryo development",
+ "musculoskeletal system phenotype",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "brain commissure",
+ "peptide transport",
+ "aplasia or hypoplasia of radius bone",
+ "musculoskeletal system physiology phenotype",
+ "metencephalon",
+ "fused cervical vertebra and cervical vertebra",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased qualitatively sensory perception",
+ "telencephalon morphology phenotype",
"brain ventricle morphology phenotype",
- "increased size of the brain ventricle/choroid plexus",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "decreased size of the forelimb bone",
- "main body axis",
- "anatomical wall",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "brain white matter",
+ "negative regulation of cellular process phenotype",
+ "Abnormal lateral ventricle morphology",
+ "telencephalon",
+ "telencephalic ventricle morphology phenotype",
+ "brain",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "decreased length of manual digit metacarpus endochondral element",
+ "artery",
+ "telencephalon phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "size of skull phenotype",
+ "regional part of brain phenotype",
+ "intercerebral commissure",
+ "Abnormal skull morphology",
+ "pituitary gland morphology phenotype",
+ "skull morphology phenotype",
+ "Abnormality of the outer ear",
+ "obsolete cell",
+ "urinary bladder",
+ "material anatomical entity mass phenotype",
+ "bladder organ phenotype",
+ "external acoustic meatus morphology phenotype",
+ "number of anatomical enitites of type neuron projection bundle phenotype",
"Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "increased size of the material anatomical entity",
- "Abnormal nervous system morphology",
- "increased size of the multicellular anatomical structure",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "ectoderm-derived structure",
- "brain ventricle phenotype",
- "absent anatomical structure in the limb",
+ "external ear phenotype",
+ "intestine phenotype",
+ "Abnormal auditory canal morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "external ear morphology phenotype",
+ "anatomical conduit phenotype",
+ "intestine",
+ "Decreased multicellular organism mass",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "transport phenotype",
+ "bone marrow cell",
+ "biological_process phenotype",
+ "upper limb segment",
+ "biological_process",
+ "multicellular organism phenotype",
+ "cellular process phenotype",
+ "forelimb zeugopod bone phenotype",
+ "decreased anatomical structure mass",
+ "aplasia or hypoplasia of manual digit",
+ "multicellular anatomical structure mass phenotype",
+ "multicellular organism mass phenotype",
+ "regulation of hormone levels",
+ "anatomical entity perforation",
+ "signaling",
+ "aplasia or hypoplasia of cranial nerve II",
+ "cavitated compound organ physiology phenotype",
+ "absent endochondral bone",
+ "signal release",
+ "growth hormone secretion",
+ "camera-type eye phenotype",
+ "peptide transport phenotype",
+ "secretion by cell phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "Abnormal growth hormone level",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "regulation of biological quality",
+ "Abnormality of neutrophils",
+ "secretion by cell",
+ "absent ectoderm-derived structure in the brain",
+ "peptide secretion phenotype",
+ "export from cell phenotype",
+ "trunk or cervical vertebra phenotype",
+ "chemical entity",
+ "biological regulation",
+ "Global developmental delay",
+ "abdominal segment of trunk",
+ "Aplasia/Hypoplasia of the optic nerve",
+ "localization",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "manus phenotype",
"peptide hormone secretion",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "nervous system",
- "increased size of the organ component layer",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "organ component layer phenotype",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "head",
- "digit",
- "acropodium region",
+ "regulation of hormone levels phenotype",
+ "amide transport phenotype",
+ "establishment of localization phenotype",
+ "Abnormality of the lower urinary tract",
+ "Abnormal circulating hormone concentration",
+ "Abnormal forearm morphology",
+ "posterior segment of eyeball morphology phenotype",
+ "export from cell",
+ "cell communication",
+ "hormone transport",
+ "Ventricular septal defect",
+ "small intestine",
+ "secretion",
+ "size of eyeball of camera-type eye phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "blood",
+ "anatomical cluster",
+ "absent anatomical entity in the multicellular organism",
+ "Microphthalmia",
"absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Aplasia/Hypoplasia of fingers",
- "aplastic manual digit 1",
- "manual digit 1 plus metapodial segment",
- "absent multicellular anatomical structure",
- "digit 1 phenotype",
- "endochondral element",
- "lymphatic part of lymphoid system",
- "myeloid cell",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "megakaryocyte morphology phenotype",
- "viscus phenotype",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "endocrine system morphology phenotype",
- "immune organ",
- "Abnormal hand morphology",
- "limb endochondral element phenotype",
- "size of brain ventricle phenotype",
- "digit morphology phenotype",
- "formed cerebellum",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "absent material anatomical entity in the multicellular organism",
- "autopod region morphology phenotype",
- "skull",
- "Abnormality of the hand",
+ "decreased size of the eyeball of camera-type eye",
+ "absent skeletal element",
+ "Hearing abnormality",
+ "Abnormal metencephalon morphology",
+ "decreased length of metapodium bone",
+ "closing of the organ part",
+ "anatomical entity morphology in the brain phenotype",
+ "formed multicellular anatomical structure",
+ "formed anatomical structure",
+ "absent anatomical structure in the brain",
+ "hindbrain morphology phenotype",
+ "Abnormal nervous system morphology",
+ "cerebellum",
+ "external acoustic meatus",
+ "cerebellum phenotype",
+ "brain commissure morphology phenotype",
+ "cranial nerve II phenotype",
+ "Aplasia/Hypoplasia affecting the fundus",
+ "Optic nerve hypoplasia",
+ "multi cell part structure phenotype",
+ "cranial nerve II hypoplasia",
+ "Functional abnormality of the middle ear",
+ "nervous system physiology phenotype",
+ "Neurodevelopmental abnormality",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure physiology phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression phenotype",
+ "regulation of cellular process phenotype",
+ "homeostatic process",
+ "paired limb/fin",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "absent limb endochondral element in the forelimb",
+ "regulation of cellular biosynthetic process",
+ "Abnormal cardiac septum morphology",
+ "metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular process",
+ "arm phenotype",
+ "regulation of cellular metabolic process",
+ "ectoderm-derived structure phenotype",
+ "regulation of biosynthetic process",
+ "Chromosomal breakage induced by crosslinking agents",
+ "regulation of macromolecule metabolic process",
+ "trunk region element physiology phenotype",
+ "bladder organ",
"renal/urinary system phenotype",
- "autopod region phenotype",
- "decreased regulation of hormone levels",
- "manus phenotype",
- "lymphoid system",
- "absent material anatomical entity in the forelimb",
- "Ventriculomegaly",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "absent digit",
- "endocrine gland",
- "decreased regulation of biological quality",
- "aplastic anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "increased number of multicellular anatomical structure",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent anatomical entity in the multicellular organism",
- "hematopoietic system morphology phenotype",
- "abdominal segment of trunk",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "endocrine system",
- "decreased size of the arm bone",
- "abdominal viscera",
+ "Abnormality of the upper urinary tract",
+ "sac physiology phenotype",
"renal system phenotype",
- "decreased peptide transport",
- "anatomical cluster phenotype",
- "duodenum",
- "trunk region element",
- "number of anatomical enitites of type organ phenotype",
- "adenohypophysis",
- "abdomen element phenotype",
- "disconnected anatomical group",
- "segment of autopod",
- "increased number of abdomen element",
- "immune system",
- "forelimb long bone phenotype",
- "number of anatomical enitites of type hemopoietic organ phenotype",
- "increased number of trunk region element",
- "increased number of material anatomical entity",
- "export from cell phenotype",
- "decreased qualitatively anatomical structure development",
- "Supernumerary spleens",
- "anterior region of body",
- "number of anatomical enitites of type immune organ phenotype",
- "cardiovascular system phenotype",
- "Abnormality of the abdominal organs",
- "decreased length of bone of free limb or fin",
- "vasculature phenotype",
- "appendicular skeleton phenotype",
- "spleen morphology phenotype",
- "subdivision of organism along main body axis",
- "face morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "abdominal segment element phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "decreased qualitatively cellular process",
+ "decreased length of metacarpal bone of digit 1",
+ "Abnormal cardiovascular system morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ phenotype",
+ "viscus physiology phenotype",
+ "multicellular anatomical structure",
+ "hematopoietic system",
+ "ureter phenotype",
+ "Vesicoureteral reflux",
+ "compound organ phenotype",
+ "excretory tube phenotype",
"non-connected functional system",
- "skeleton of limb phenotype",
- "vascular system",
- "subdivision of tube atresia",
- "circulatory system",
- "Opisthokonta",
- "increased number of anatomical entity in the abdomen",
+ "lower urinary tract phenotype",
+ "musculoskeletal system",
+ "Short neck",
+ "abdominal segment element",
+ "manual digit 1 phalanx endochondral element",
+ "excretory tube",
"Limb undergrowth",
- "number of anatomical enitites of type viscus phenotype",
- "lymphatic part of lymphoid system phenotype",
- "Eukaryota",
- "anatomical system phenotype",
- "increased number of anatomical structure in the abdomen",
- "hemopoietic organ phenotype",
- "trunk phenotype",
- "decreased signal release",
- "reproductive structure",
- "long bone",
- "decreased biological_process in brain",
- "decreased peptide secretion",
+ "genitourinary system",
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 44,
"highlight": None,
"score": None,
},
diff --git a/backend/tests/fixtures/search_query.py b/backend/tests/fixtures/search_query.py
index 159fcaf1b..33829b5c5 100644
--- a/backend/tests/fixtures/search_query.py
+++ b/backend/tests/fixtures/search_query.py
@@ -12,7 +12,6 @@ def search_query():
"facet_fields": [],
"facet_queries": [],
"filter_queries": ["name:*"],
- "facet_mincount": 1,
"query_fields": "id^100 name^10 name_t^5 name_ac symbol^10 symbol_t^5 symbol_ac synonym synonym_t synonym_ac description_t xref",
"def_type": "edismax",
"q_op": "AND",
diff --git a/backend/tests/fixtures/search_response.py b/backend/tests/fixtures/search_response.py
index 39821bd1a..285dcfa8f 100644
--- a/backend/tests/fixtures/search_response.py
+++ b/backend/tests/fixtures/search_response.py
@@ -5,7 +5,7 @@
def search_response():
return {
"responseHeader": {
- "QTime": 3,
+ "QTime": 0,
"params": {
"mm": "100%",
"q": "fanconi",
@@ -16,7 +16,6 @@ def search_response():
"q.op": "AND",
"boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:Disease"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))',
"fq": "name:*",
- "facet.mincount": "1",
"rows": "20",
"facet": "true",
},
@@ -60,35 +59,48 @@ def search_response():
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0100867",
- "HP:0100760",
+ "HP:0000047",
+ "HP:0002575",
+ "HP:0000483",
+ "HP:0000238",
+ "HP:0001249",
+ "HP:0001000",
"HP:0100587",
- "HP:0100542",
"HP:0100026",
"HP:0040071",
+ "HP:0006824",
+ "HP:0005344",
+ "HP:0002414",
+ "HP:0000582",
+ "HP:0000518",
+ "HP:0000508",
+ "HP:0000252",
+ "HP:0010469",
+ "HP:0000377",
+ "HP:0002119",
+ "HP:0001392",
+ "HP:0000864",
+ "HP:0000316",
+ "HP:0000027",
+ "HP:0002863",
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100542",
"HP:0012639",
"HP:0012041",
- "HP:0010469",
"HP:0010293",
"HP:0008678",
- "HP:0000377",
"HP:0008053",
"HP:0007565",
- "HP:0006824",
"HP:0006265",
"HP:0006101",
- "HP:0005344",
"HP:0004349",
"HP:0004209",
"HP:0003022",
- "HP:0002863",
"HP:0002827",
"HP:0002823",
- "HP:0002575",
- "HP:0002414",
"HP:0002251",
"HP:0002245",
- "HP:0002119",
"HP:0002023",
"HP:0002007",
"HP:0001824",
@@ -105,22 +117,16 @@ def search_response():
"HP:0001537",
"HP:0001511",
"HP:0001510",
- "HP:0001392",
"HP:0001347",
"HP:0001199",
- "HP:0000864",
"HP:0000813",
"HP:0000639",
- "HP:0000582",
"HP:0000568",
"HP:0000520",
- "HP:0000518",
- "HP:0000508",
"HP:0000505",
"HP:0000504",
"HP:0000492",
"HP:0000486",
- "HP:0000483",
"HP:0000478",
"HP:0000453",
"HP:0000365",
@@ -128,20 +134,16 @@ def search_response():
"HP:0000347",
"HP:0000340",
"HP:0000324",
- "HP:0000316",
"HP:0000286",
"HP:0000268",
- "HP:0000238",
"HP:0000218",
"HP:0000175",
"HP:0000135",
"HP:0000130",
"HP:0000083",
"HP:0000072",
- "HP:0000047",
"HP:0000035",
"HP:0000028",
- "HP:0000027",
"HP:0000010",
"HP:0012745",
"HP:0012210",
@@ -150,8 +152,6 @@ def search_response():
"HP:0002650",
"HP:0001671",
"HP:0001263",
- "HP:0001249",
- "HP:0000252",
"HP:0000079",
"HP:0007400",
"HP:0006501",
@@ -165,38 +165,50 @@ def search_response():
"HP:0001871",
"HP:0001172",
"HP:0001053",
- "HP:0001000",
],
"has_phenotype_label": [
- "Duodenal stenosis",
- "Clubbing of toes",
+ "Hypospadias",
+ "Tracheoesophageal fistula",
+ "Astigmatism",
+ "Hydrocephalus",
+ "Intellectual disability",
+ "Abnormality of skin pigmentation",
"Abnormal preputium morphology",
- "Abnormal localization of kidney",
"Arteriovenous malformation",
"Abnormal morphology of ulna",
+ "Cranial nerve paralysis",
+ "Abnormal carotid artery morphology",
+ "Spina bifida",
+ "Upslanted palpebral fissure",
+ "Cataract",
+ "Ptosis",
+ "Microcephaly",
+ "Absent testis",
+ "Abnormal pinna morphology",
+ "Ventriculomegaly",
+ "Abnormality of the liver",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Hypertelorism",
+ "Azoospermia",
+ "Myelodysplasia",
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal localization of kidney",
"Abnormal nervous system morphology",
"Decreased fertility in males",
- "Absent testis",
"Aplasia/Hypoplasia of the uvula",
"Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
"Aplasia/Hypoplasia of the iris",
"Multiple cafe-au-lait spots",
- "Cranial nerve paralysis",
"Aplasia/Hypoplasia of fingers",
"Finger syndactyly",
- "Abnormal carotid artery morphology",
"Reduced bone mineral density",
"Clinodactyly of the 5th finger",
"Hypoplasia of the ulna",
- "Myelodysplasia",
"Hip dislocation",
"Abnormal femur morphology",
- "Tracheoesophageal fistula",
- "Spina bifida",
"Aganglionic megacolon",
"Meckel diverticulum",
- "Ventriculomegaly",
"Anal atresia",
"Frontal bossing",
"Weight loss",
@@ -213,22 +225,16 @@ def search_response():
"Umbilical hernia",
"Intrauterine growth retardation",
"Growth delay",
- "Abnormality of the liver",
"Hyperreflexia",
"Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
"Bicornuate uterus",
"Nystagmus",
- "Upslanted palpebral fissure",
"Microphthalmia",
"Proptosis",
- "Cataract",
- "Ptosis",
"Visual impairment",
"Abnormality of vision",
"Abnormal eyelid morphology",
"Strabismus",
- "Astigmatism",
"Abnormality of the eye",
"Choanal atresia",
"Hearing impairment",
@@ -236,20 +242,16 @@ def search_response():
"Micrognathia",
"Sloping forehead",
"Facial asymmetry",
- "Hypertelorism",
"Epicanthus",
"Dolichocephaly",
- "Hydrocephalus",
"High palate",
"Cleft palate",
"Hypogonadism",
"Abnormality of the uterus",
"Renal insufficiency",
"Hydroureter",
- "Hypospadias",
"Abnormal testis morphology",
"Cryptorchidism",
- "Azoospermia",
"Recurrent urinary tract infections",
"Short palpebral fissure",
"Abnormal renal morphology",
@@ -258,8 +260,6 @@ def search_response():
"Scoliosis",
"Abnormal cardiac septum morphology",
"Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
"Abnormality of the urinary system",
"Irregular hyperpigmentation",
"Aplasia/Hypoplasia of the radius",
@@ -273,16546 +273,16986 @@ def search_response():
"Abnormality of blood and blood-forming tissues",
"Abnormal thumb morphology",
"Hypopigmented skin patches",
- "Abnormality of skin pigmentation",
],
"has_phenotype_count": 106,
"has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
- "UPHENO:0077889",
+ "HP:0001010",
+ "HP:0001873",
+ "UPHENO:0080010",
+ "CL:0000457",
"UPHENO:0077373",
- "UPHENO:0077391",
- "HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
+ "CL:0000233",
+ "CL:0000458",
+ "UPHENO:0085344",
+ "HP:0011875",
+ "UPHENO:0086173",
+ "HP:0011893",
"CL:0000738",
+ "UPHENO:0088166",
+ "UPHENO:0035160",
+ "UPHENO:0088319",
+ "UPHENO:0076675",
+ "UBERON:0000179",
"CL:0000255",
- "HP:0001881",
- "UPHENO:0063722",
+ "CL:0000219",
+ "UBERON:0000178",
+ "UPHENO:0077348",
"UPHENO:0085410",
- "UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
+ "UPHENO:0049904",
+ "GO:0008152",
"HP:0003220",
- "HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
"HP:0000002",
+ "UPHENO:0080351",
"UPHENO:0075159",
- "HP:0004322",
- "GO:0034101",
+ "HP:0010972",
+ "GO:0030099",
+ "GO:0030097",
+ "CL:0000988",
+ "GO:0048872",
+ "GO:0042592",
+ "GO:0002376",
+ "GO:0009987",
"HP:0001877",
- "HP:0001903",
- "GO:0030218",
+ "CL:0000232",
+ "HP:0005522",
+ "GO:0048871",
+ "GO:0048869",
+ "UPHENO:0088170",
"CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
"CL:0001035",
- "GO:0042592",
+ "GO:0030218",
+ "UPHENO:0088162",
"HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
- "UPHENO:0080187",
- "HP:0002818",
"UBERON:0015001",
- "UPHENO:0087510",
- "UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
- "HP:0001249",
+ "UPHENO:0080187",
+ "HP:0002650",
"HP:0200005",
- "UPHENO:0075944",
"UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
+ "UPHENO:0069119",
"UPHENO:0046755",
+ "UPHENO:0075198",
"UPHENO:0069562",
- "UBERON:0002405",
+ "HP:0000010",
+ "UPHENO:0002263",
"UPHENO:0002948",
- "UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
- "UPHENO:0052965",
- "UPHENO:0086172",
- "UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
- "UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
- "UPHENO:0078452",
- "UPHENO:0053563",
"UPHENO:0053561",
- "UPHENO:0053571",
+ "CL:0000329",
+ "UPHENO:0053632",
+ "UPHENO:0002940",
+ "UPHENO:0053647",
+ "UPHENO:0053644",
"UPHENO:0053572",
- "UPHENO:0075933",
- "UBERON:0010418",
- "UBERON:0001333",
+ "HP:0000028",
+ "UPHENO:0053559",
"UBERON:0000056",
- "UBERON:0036295",
- "UPHENO:0002806",
- "UBERON:0006555",
"UPHENO:0002636",
- "UPHENO:0076780",
+ "UBERON:0036295",
"HP:0000072",
+ "UBERON:0006555",
+ "UPHENO:0003101",
+ "HP:0025633",
+ "UPHENO:0002859",
"UPHENO:0002426",
- "HP:0011277",
"UPHENO:0002377",
+ "UPHENO:0002427",
+ "UPHENO:0002442",
+ "UPHENO:0002411",
"HP:0012211",
+ "UPHENO:0002422",
+ "HP:0000135",
"UPHENO:0003056",
- "HP:0002719",
+ "UPHENO:0002381",
"UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
- "HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
+ "UPHENO:0066945",
+ "UPHENO:0033589",
+ "UPHENO:0002806",
"UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
- "UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
+ "HP:5201015",
+ "UPHENO:0077399",
+ "UPHENO:0001392",
"HP:0000218",
- "GO:0008152",
- "UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
"UPHENO:0063518",
- "UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
- "UPHENO:0014761",
- "UPHENO:0014240",
- "HP:0010987",
- "UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
- "HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
+ "UPHENO:0063524",
+ "UPHENO:0081423",
+ "UPHENO:0063529",
+ "UPHENO:0063519",
+ "HP:0000268",
+ "UPHENO:0072402",
+ "UPHENO:0072332",
+ "UPHENO:0087058",
+ "UBERON:1000021",
"UPHENO:0087928",
"UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
- "UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
"UBERON:0013766",
+ "UPHENO:0072293",
"UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
- "UPHENO:0072332",
- "UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
- "UPHENO:0072195",
- "CL:0002092",
"UPHENO:0084734",
"HP:0001999",
- "UPHENO:0084729",
"HP:0000324",
- "HP:0000340",
+ "HP:0001263",
"UPHENO:0005982",
+ "UPHENO:0041151",
"UPHENO:0041083",
- "UPHENO:0002942",
"HP:0000347",
- "UPHENO:0081786",
- "UPHENO:0002868",
+ "HP:0000286",
+ "HP:0009118",
+ "UPHENO:0081314",
+ "CL:0000081",
"UBERON:0012360",
- "HP:0009122",
+ "UPHENO:0002732",
+ "UBERON:0001710",
+ "UPHENO:0076780",
+ "UPHENO:0002815",
+ "HP:0011873",
+ "UPHENO:0081788",
+ "UPHENO:0088116",
+ "UPHENO:0002772",
"UPHENO:0081141",
- "HP:0009116",
- "UPHENO:0075890",
- "HP:0011821",
- "UPHENO:0080165",
- "UBERON:0001684",
+ "HP:0012745",
+ "UPHENO:0002818",
"UPHENO:0080087",
- "UPHENO:0005437",
- "UPHENO:0050234",
- "UPHENO:0005517",
- "GO:0007605",
- "UPHENO:0052231",
+ "UBERON:0001708",
+ "UBERON:0003278",
+ "UBERON:0001684",
+ "UPHENO:0002761",
+ "HP:0000277",
+ "UBERON:0004768",
+ "UPHENO:0081786",
+ "UPHENO:0002942",
+ "HP:0009116",
+ "HP:0000365",
+ "UPHENO:0052970",
+ "UPHENO:0005513",
+ "UPHENO:0005518",
+ "UPHENO:0087894",
+ "UPHENO:0063621",
+ "HP:0000453",
"HP:0000415",
"HP:0000366",
- "UBERON:0010425",
"UPHENO:0002906",
- "UPHENO:0087894",
- "UBERON:0002268",
- "UPHENO:0072414",
- "UPHENO:0063588",
- "UBERON:0005725",
+ "UPHENO:0063595",
+ "UPHENO:0033635",
+ "UBERON:0004771",
"UBERON:0000003",
- "UBERON:0005726",
- "UPHENO:0005071",
- "HP:0005105",
- "UPHENO:0003048",
- "UBERON:0012430",
- "UPHENO:0031123",
- "UPHENO:0086198",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0031142",
- "UPHENO:0004764",
- "UPHENO:0076704",
- "HP:0002692",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UPHENO:0075877",
- "UBERON:0000964",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0041053",
- "UPHENO:0003395",
- "UBERON:0000015",
- "HP:0000549",
"HP:0000486",
- "CL:0000151",
- "UPHENO:0050620",
- "UPHENO:0052159",
- "UPHENO:0052164",
+ "GO:0034101",
+ "UPHENO:0050622",
"UPHENO:0052165",
+ "UPHENO:0052159",
"UPHENO:0052162",
- "HP:0000505",
- "HP:0000504",
- "UPHENO:0041410",
- "HP:0000517",
- "UPHENO:0084816",
- "HP:0000518",
- "HP:0100886",
- "UPHENO:0069523",
- "HP:0100887",
- "HP:0000568",
+ "UPHENO:0050236",
+ "GO:0050953",
+ "UPHENO:0052161",
+ "UPHENO:0052164",
+ "UPHENO:0085881",
+ "HP:0000520",
"UPHENO:0068914",
- "HP:0000582",
- "HP:0012758",
- "HP:0200006",
- "UBERON:0001711",
- "HP:0008050",
- "UPHENO:0076761",
- "UPHENO:0003085",
- "UPHENO:0002301",
- "UPHENO:0002403",
+ "HP:0100887",
+ "UPHENO:0069161",
+ "UPHENO:0075219",
+ "UPHENO:0002467",
+ "UPHENO:0003044",
+ "HP:0000359",
+ "UPHENO:0079828",
+ "HP:0031704",
+ "HP:0000496",
"HP:0007670",
- "UPHENO:0015184",
- "UPHENO:0002386",
- "HP:0001751",
- "UBERON:0035639",
- "HP:0012373",
- "UPHENO:0081424",
- "UPHENO:0078736",
"UPHENO:0002240",
- "HP:0012547",
- "HP:0031704",
- "NBO:0000416",
- "UPHENO:0002211",
- "UPHENO:0079828",
- "GO:0048872",
- "UPHENO:0002467",
- "NBO:0000444",
- "HP:0011389",
- "UPHENO:0002955",
- "UPHENO:0002687",
- "HP:0000130",
- "UBERON:0003100",
+ "UPHENO:0079837",
+ "HP:0000008",
"UPHENO:0005170",
- "UPHENO:0002598",
- "UPHENO:0072255",
- "HP:0000813",
- "UPHENO:0002977",
+ "UBERON:0003100",
+ "HP:0000130",
+ "UPHENO:0041664",
+ "UPHENO:0041033",
+ "UPHENO:0003053",
+ "HP:0002719",
"UPHENO:0076766",
- "HP:0000812",
- "UBERON:0004175",
- "UBERON:0003134",
+ "HP:0010460",
"UBERON:0000993",
- "UPHENO:0072264",
+ "UPHENO:0046471",
"UBERON:0013515",
- "UPHENO:0035151",
- "UPHENO:0087974",
- "HP:0000008",
- "UPHENO:0088319",
- "UBERON:0004092",
- "UPHENO:0075995",
- "UBERON:0005897",
- "UPHENO:0003069",
- "HP:0009602",
+ "UBERON:0003975",
+ "UPHENO:0002977",
+ "UBERON:5006048",
+ "UBERON:5102389",
"UBERON:0015024",
- "UBERON:5106048",
- "HP:0011893",
- "UBERON:0012151",
- "UBERON:0004249",
- "UPHENO:0011572",
+ "UBERON:0001463",
+ "UBERON:0006048",
+ "UBERON:0015025",
+ "UPHENO:0076724",
"HP:0001172",
- "UBERON:0003620",
- "UBERON:0012358",
- "UPHENO:0063514",
- "NBO:0000313",
- "UPHENO:0084457",
- "UPHENO:0049708",
+ "UPHENO:0050620",
+ "GO:0060004",
+ "HP:0000708",
"HP:0100022",
- "UPHENO:0002263",
- "NBO:0000389",
- "GO:0050905",
+ "UBERON:0004742",
+ "NBO:0000388",
"NBO:0000338",
- "GO:0050882",
- "UPHENO:0053500",
- "UPHENO:0079826",
+ "UPHENO:0083263",
+ "UPHENO:0050875",
+ "UPHENO:0050079",
+ "GO:0007610",
"UPHENO:0051276",
- "UPHENO:0055024",
- "GO:0048871",
- "UPHENO:0049622",
- "NBO:0000001",
- "UPHENO:0066945",
- "UPHENO:0011557",
+ "UPHENO:0079826",
+ "UPHENO:0055094",
+ "UPHENO:0049703",
+ "UPHENO:0049708",
"NBO:0000403",
- "UPHENO:0049699",
- "UPHENO:0050079",
- "GO:0003008",
- "GO:0007610",
- "UBERON:0002107",
- "HP:0002012",
- "UPHENO:0002529",
- "UBERON:0002530",
- "UPHENO:0004061",
- "UBERON:0002368",
- "UBERON:0002365",
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- "UPHENO:0002713",
- "HP:0040064",
- "UPHENO:0003004",
+ "UPHENO:0002994",
+ "UPHENO:0081091",
+ "UPHENO:0081575",
+ "UBERON:0004053",
+ "HP:0040072",
+ "UBERON:0001441",
+ "UBERON:0015023",
+ "UBERON:0000154",
+ "UBERON:0004122",
+ "HP:0009826",
+ "UPHENO:0002964",
+ "UPHENO:0088140",
+ "UBERON:0006314",
+ "UPHENO:0041821",
+ "UPHENO:0002733",
+ "HP:0001824",
+ "UBERON:0004709",
+ "UPHENO:0086628",
+ "UPHENO:0076748",
+ "UBERON:0012152",
+ "UPHENO:0078375",
+ "UBERON:0010696",
+ "NBO:0000444",
+ "UPHENO:0081344",
+ "UPHENO:0086866",
+ "UBERON:0001445",
+ "UPHENO:0084763",
"HP:0100760",
- "UPHENO:0081594",
- "HP:0430000",
- "UPHENO:0004621",
- "UPHENO:0084715",
- "HP:0002060",
- "HP:0001873",
- "UPHENO:0004149",
- "UBERON:0003528",
- "HP:0100547",
- "HP:0005522",
- "GO:0050954",
- "UPHENO:0004459",
- "UPHENO:0003098",
- "UPHENO:0002371",
- "UPHENO:0063594",
- "UBERON:0010323",
+ "UPHENO:0086700",
+ "UBERON:0004248",
+ "HP:0011297",
+ "UPHENO:0076957",
+ "UPHENO:0001391",
+ "HP:0100790",
+ "HP:0010935",
+ "UPHENO:0075902",
+ "CL:0000015",
+ "UPHENO:0002754",
+ "UBERON:0002137",
+ "UBERON:0011143",
+ "UBERON:0007842",
+ "UBERON:0002113",
+ "UBERON:0002544",
+ "UPHENO:0076695",
+ "UBERON:0000060",
+ "UPHENO:0087585",
"UBERON:0011159",
- "UPHENO:0041667",
+ "UPHENO:0079872",
+ "UBERON:0000982",
+ "UPHENO:0002807",
+ "UPHENO:0076786",
+ "UBERON:0001703",
+ "UPHENO:0078215",
+ "UBERON:0012240",
+ "UBERON:0001734",
+ "UBERON:0005944",
+ "UBERON:0000079",
+ "UBERON:0001716",
+ "UBERON:0000949",
+ "UBERON:0001733",
+ "UPHENO:0087806",
+ "UPHENO:0002828",
+ "UPHENO:0003095",
+ "UBERON:0034768",
+ "UBERON:0002553",
+ "HP:0010293",
+ "UBERON:0004089",
+ "UPHENO:0063514",
+ "UPHENO:0081570",
+ "UPHENO:0076781",
+ "UPHENO:0004476",
+ "UPHENO:0075843",
+ "HP:0000172",
+ "UBERON:0007375",
+ "HP:0031816",
+ "HP:0008678",
+ "HP:0012372",
+ "UBERON:0005179",
+ "HP:0010674",
+ "HP:0001217",
+ "UPHENO:0071332",
+ "UBERON:0001766",
+ "HP:0001155",
+ "UBERON:0003101",
+ "UPHENO:0080201",
+ "HP:0000553",
+ "GO:0009605",
+ "UBERON:0004088",
+ "UPHENO:0088049",
+ "UBERON:0001464",
+ "UPHENO:0005231",
+ "UPHENO:0063794",
+ "UBERON:0000063",
+ "UPHENO:0001147",
+ "UBERON:0007273",
+ "HP:0008056",
+ "GO:0005623",
+ "UBERON:0006311",
+ "UPHENO:0071334",
+ "UPHENO:0080209",
+ "UBERON:5002544",
+ "UBERON:0001769",
+ "HP:0000593",
+ "UBERON:5002389",
+ "BFO:0000040",
+ "UPHENO:0071317",
+ "HP:0034261",
+ "UPHENO:0076692",
+ "UPHENO:0046445",
+ "HP:0008053",
+ "UPHENO:0054957",
+ "UPHENO:0074575",
+ "CL:0000225",
+ "UPHENO:0054970",
+ "UBERON:0001359",
+ "UPHENO:0074584",
+ "UBERON:0000167",
+ "UBERON:0001442",
+ "HP:0001034",
+ "UPHENO:0085371",
+ "UPHENO:0076723",
+ "UBERON:0002384",
+ "UBERON:0012141",
+ "UBERON:0005451",
+ "UPHENO:0084653",
+ "HP:0005922",
+ "UBERON:0002355",
+ "HP:0006265",
+ "UPHENO:0046487",
+ "UPHENO:0049940",
+ "UPHENO:0084761",
+ "HP:0000483",
+ "UPHENO:0001360",
+ "UPHENO:0003799",
+ "HP:0008373",
+ "HP:0005927",
"HP:0045060",
- "UPHENO:0078125",
- "UPHENO:0046405",
- "UBERON:0016526",
- "UPHENO:0090191",
- "UBERON:0022303",
- "UPHENO:0087530",
- "UPHENO:0078730",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0002772",
- "UBERON:0000045",
- "UPHENO:0082905",
- "HP:0007364",
- "UBERON:0001870",
- "UPHENO:0005994",
- "UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
+ "UPHENO:0076760",
+ "UPHENO:0084448",
+ "GO:0007275",
+ "UPHENO:0078288",
+ "HP:0001159",
+ "UPHENO:0078179",
+ "UPHENO:0053330",
+ "UPHENO:0082834",
+ "HP:0004209",
+ "UBERON:0002412",
+ "GO:0001503",
+ "HP:0011849",
+ "UPHENO:0082835",
+ "UPHENO:0076736",
+ "UBERON:5003625",
+ "UPHENO:0001031",
+ "HP:0011446",
+ "HP:0030084",
+ "HP:0000377",
+ "HP:0004097",
+ "HP:0001770",
+ "UPHENO:0086143",
+ "UBERON:0012357",
+ "UPHENO:0084842",
+ "HP:0009824",
+ "UPHENO:0084829",
+ "HP:0000864",
+ "UPHENO:0086150",
+ "UBERON:0002094",
+ "UPHENO:0046552",
+ "UPHENO:0068839",
+ "HP:0000478",
+ "UPHENO:0046554",
+ "UPHENO:0076804",
+ "UPHENO:0046505",
+ "HP:0001763",
+ "UPHENO:0068921",
+ "UPHENO:0087612",
+ "UPHENO:0046594",
+ "HP:0410014",
+ "UPHENO:0069292",
+ "UPHENO:0081581",
+ "UPHENO:0012274",
+ "CL:0002092",
+ "UPHENO:0046484",
+ "HP:0000568",
+ "UPHENO:0069064",
+ "UPHENO:0069125",
+ "UPHENO:0087892",
+ "UPHENO:0001001",
+ "UPHENO:0012440",
+ "UPHENO:0002987",
+ "UPHENO:0002866",
+ "UPHENO:0069030",
+ "UPHENO:0046483",
+ "UBERON:0001005",
+ "UPHENO:0046472",
+ "UBERON:0003126",
+ "UPHENO:0002967",
+ "UPHENO:0068838",
"UBERON:0012180",
- "RO:0002577",
- "UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
- "UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
- "UBERON:0007842",
- "UBERON:0007914",
+ "UPHENO:0063588",
+ "UPHENO:0068971",
+ "UPHENO:0046397",
+ "UPHENO:0012312",
+ "UPHENO:0002902",
+ "UPHENO:0076754",
+ "UPHENO:0069194",
+ "UPHENO:0003015",
+ "UBERON:0003828",
+ "UPHENO:0086088",
+ "UBERON:0003463",
+ "UPHENO:0066905",
+ "UBERON:0003840",
+ "HP:0000504",
+ "UPHENO:0002813",
+ "UPHENO:0046465",
+ "UPHENO:0087980",
+ "UBERON:0011595",
+ "UPHENO:0081598",
+ "UPHENO:0081608",
+ "UPHENO:0003021",
+ "HP:0001367",
+ "UBERON:0007832",
],
"has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
"decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
+ "Hypopigmentation of the skin",
"Abnormal platelet morphology",
- "biogenic amine secreting cell",
"Thrombocytopenia",
- "Hypopigmented skin patches",
+ "Abnormal platelet count",
+ "decreased number of platelet",
+ "number of platelet phenotype",
"serotonin secreting cell",
- "decreased number of material anatomical entity in the multicellular organism",
- "decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
- "nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
"Abnormal immune system morphology",
- "number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
- "Abnormal leukocyte morphology",
- "homeostatic process phenotype",
- "metabolic process",
+ "Abnormal cellular immune system morphology",
+ "decreased number of hematopoietic cell",
+ "leukocyte",
+ "decreased number of anatomical structure in the multicellular organism",
+ "decreased number of leukocyte in the blood",
+ "decreased number of anatomical structure",
+ "Leukopenia",
+ "nucleate cell",
"motile cell",
- "decreased height of the anatomical entity",
- "Short stature",
+ "decreased number of anatomical entity in the blood",
+ "Abnormality of chromosome stability",
+ "Abnormal cellular physiology",
"decreased height of the multicellular organism",
- "multicellular organism height phenotype",
"decreased size of the multicellular organism",
- "Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
- "blood cell phenotype",
- "bone cell",
+ "size of multicellular organism phenotype",
+ "cellular developmental process",
+ "decreased number of anatomical entity in the multicellular organism",
+ "blood cell",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "Abnormal bone marrow cell morphology",
+ "Sideroblastic anemia",
+ "homeostatic process",
+ "immune system process",
+ "cellular process",
+ "erythrocyte differentiation",
+ "Abnormal erythroid lineage cell morphology",
+ "cell development",
+ "Abnormal myeloid cell morphology",
"Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
+ "hemopoiesis",
"erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
+ "homeostasis of number of cells",
+ "erythrocyte homeostasis",
+ "bone cell",
+ "aplasia or hypoplasia of radius bone",
"Abnormal morphology of the radius",
- "radius endochondral element",
"radius bone phenotype",
- "Abnormality of skull size",
- "cognition",
- "Scoliosis",
- "Almond-shaped palpebral fissure",
- "size of palpebral fissure phenotype",
+ "radius bone morphology phenotype",
+ "Neurodevelopmental delay",
+ "shape palpebral fissure",
+ "Abnormal shape of the palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "decreased size of the orifice",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
"decreased size of the palpebral fissure",
- "Recurrent infections",
- "immune system phenotype",
- "Recurrent urinary tract infections",
- "Abnormality of the immune system",
+ "decreased length of orifice",
+ "decreased length of anatomical conduit",
"immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
- "absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
- "absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
- "absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
- "male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
- "localised anatomical structure",
+ "Unusual infection",
+ "localised male reproductive organ",
+ "localised organ",
"Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
- "male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
- "urethra phenotype",
- "Abnormality of thrombocytes",
- "urethral opening",
+ "localised anatomical structure",
+ "ureter",
+ "excretory tube phenotype",
"Abnormal ureter morphology",
"Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
+ "Hypopigmented skin patches",
"Abnormality of the urinary system physiology",
+ "cavitated compound organ physiology phenotype",
"abdominal segment element physiology phenotype",
"kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
+ "Abnormal renal physiology",
+ "gonad physiology phenotype",
"decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cleft palate",
"incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
+ "Craniofacial cleft",
"incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
"increased size of the structure with developmental contribution from neural crest",
+ "anatomical entity height phenotype",
+ "increased height of the anatomical structure",
"High palate",
+ "increased height of the material anatomical entity",
"increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
+ "increased height of the anatomical entity",
+ "immune system morphology phenotype",
"increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
+ "increased height of the ectoderm-derived structure",
+ "increased size of the neural crest-derived structure",
+ "increased height of the multi-tissue structure",
+ "number of leukocyte phenotype",
+ "increased length of the ectoderm-derived structure",
+ "increased length of the organ part",
+ "increased length of the epicanthal fold",
"Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
+ "upper eyelid",
"skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
+ "head or neck skin",
+ "skin of face",
"zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
+ "increased size of the zone of organ",
+ "skin of head",
"asymmetry of anatomical entity phenotype",
+ "Abnormal leukocyte count",
"Facial asymmetry",
"asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
+ "Sloping forehead",
"forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
+ "sloped anatomical entity",
"lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
+ "dermal bone phenotype",
+ "increased height of the structure with developmental contribution from neural crest",
+ "intramembranous bone phenotype",
+ "bone element hypoplasia in face",
+ "secretory cell",
+ "bone of lower jaw phenotype",
+ "mandible morphology phenotype",
+ "mandible",
"dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
+ "facial bone hypoplasia",
+ "bone of lower jaw",
"anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
+ "skin of eyelid",
"Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
+ "mandible hypoplasia",
+ "sensory perception of sound",
"decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
+ "sloped forehead",
"sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "Hearing abnormality",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased system process",
+ "Hearing impairment",
+ "nose phenotype",
+ "naris",
+ "olfactory organ",
+ "compound organ physiology phenotype",
"posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
"naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
+ "posterior nasal aperture",
"Abnormal conjugate eye movement",
"Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
"visual perception",
- "Abnormality of vision",
+ "sensory perception of light stimulus",
"decreased qualitatively system process",
- "visual perception phenotype",
"decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
+ "sensory perception phenotype",
+ "decreased qualitatively nervous system process",
+ "Abnormality of globe size",
+ "sensory perception of light stimulus phenotype",
"size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
+ "decreased size of the ectoderm-derived structure",
+ "internal ear physiology phenotype",
"eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
+ "vestibulo-ocular reflex phenotype",
"Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
+ "Abnormality of eye movement",
+ "multi organ part structure physiology phenotype",
+ "Abnormal vestibular function",
+ "Aplasia/Hypoplasia of facial bones",
"bicornuate uterus",
- "female reproductive organ",
+ "female organism",
+ "internal female genitalia morphology phenotype",
+ "decreased functionality of the organ",
+ "oviduct",
"uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
+ "bicornuate anatomical entity",
+ "shape uterus",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the uterus",
+ "subdivision of oviduct phenotype",
+ "internal female genitalia",
+ "Abnormal finger phalanx morphology",
+ "Triphalangeal thumb",
+ "manual digitopodium bone",
+ "digit 1",
"manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
+ "decreased sensory perception",
"manual digit bone",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
"manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
+ "ureter morphology phenotype",
+ "skeleton of manual acropodium",
+ "skeleton of manual digitopodium",
+ "Abnormality of the immune system",
+ "manual digit phalanx endochondral element",
+ "facial bone phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "manus bone",
+ "excretory tube",
+ "manual digit 1 phalanx endochondral element",
"phalanx of manus",
"manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
"neuromuscular process",
+ "kinesthetic behavior",
"voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
+ "voluntary movement behavior phenotype",
+ "system process phenotype",
+ "reflex phenotype",
+ "increased response to stimulus",
+ "Recurrent urinary tract infections",
+ "involuntary movement behavior",
"response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
+ "reflex",
+ "increased qualitatively response to stimulus",
+ "Global developmental delay",
+ "reflexive behavior",
+ "behavior phenotype",
+ "Hyperreflexia",
+ "multicellular organismal movement phenotype",
"decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
+ "decreased qualitatively multicellular organismal process",
"anatomical structure development phenotype",
- "decreased qualitatively biological_process",
+ "multicellular organismal process phenotype",
"Growth delay",
- "Intrauterine growth retardation",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
+ "delayed growth",
+ "embryo development rate phenotype",
+ "embryo development phenotype",
+ "Abnormality of vision",
+ "anatomical wall phenotype",
+ "Hernia",
"Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
+ "digit 1 digitopodial skeleton",
+ "tissue phenotype",
"herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
+ "connective tissue",
+ "erythrocyte morphology phenotype",
+ "umbilicus",
+ "abdominal wall phenotype",
"herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
+ "facial skeleton",
+ "abdominal viscera",
+ "incomplete closing of the organ part",
+ "embryo phenotype",
"organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
+ "Renal insufficiency",
"late embryo",
- "bone of jaw phenotype",
+ "Abnormality of prenatal development or birth",
+ "uterus phenotype",
"Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
+ "response to external stimulus",
+ "Abnormality of the amniotic fluid",
+ "embryonic development/birth phenotype",
"cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
+ "metabolic process",
+ "Abnormal cardiac septum morphology",
+ "interatrial septum",
"Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
+ "cardiac septum",
"increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
+ "incomplete closing of the interventricular septum",
+ "Abnormality of thumb phalanx",
"increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
+ "cardiac septum morphology phenotype",
+ "right cardiac chamber phenotype",
+ "cardiac septum phenotype",
+ "increased size of the lateral structure",
"size of cardiac ventricle phenotype",
+ "interventricular septum morphology phenotype",
+ "heart right ventricle morphology phenotype",
+ "cardiac ventricle phenotype",
"septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
+ "incomplete closing of the cardiac septum",
+ "cardiac chamber morphology in the heart phenotype",
+ "hypertrophic cardiac ventricle",
+ "cardiac chamber phenotype",
+ "septum",
+ "increased size of the cardiac chamber",
+ "incomplete closing of the septum",
+ "Intrauterine growth retardation",
"decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
"mesoderm-derived structure physiology phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "decreased nervous system process",
+ "decreased functionality of the organ component layer",
+ "Abnormality of the abdominal wall",
+ "organ component layer physiology phenotype",
+ "heart layer phenotype",
"layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
+ "Abnormal choanae morphology",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "Hypertrophic cardiomyopathy",
+ "Abnormal myocardium morphology",
+ "decreased multicellular organism development",
+ "heart layer",
+ "decreased functionality of the anatomical entity",
+ "decreased multicellular organismal process",
+ "incomplete closing of the trunk blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "systemic artery phenotype",
+ "blood vessel phenotype",
+ "nervous system process phenotype",
+ "incomplete closing of the coronary vessel",
+ "coronary vessel morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
"incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "aplasia or hypoplasia of mandible",
+ "trunk blood vessel",
"trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
"vasculature of organ",
"vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
"heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "sensory perception of sound phenotype",
+ "response to stimulus",
+ "ductus arteriosus",
+ "incomplete closing of the artery",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "myeloid cell",
+ "incomplete closing of the blood vessel",
+ "anatomical entity morphology in the heart phenotype",
+ "Patent ductus arteriosus",
+ "anatomical structure morphology in the heart phenotype",
+ "hematopoietic cell",
"semi-lunar valve",
- "outflow tract of ventricle",
+ "neuromuscular process phenotype",
+ "heart",
+ "aortic valve morphology phenotype",
+ "platelet phenotype",
+ "Abnormal heart morphology",
+ "Abnormal heart valve morphology",
"semi-lunar valve morphology phenotype",
"heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
+ "internal ear",
+ "heart left ventricle",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "outflow part of left ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "cardiac valve",
+ "bone of jaw",
"aortic system",
- "aorta phenotype",
- "mandible",
+ "aortic valve",
+ "thoracic cavity blood vessel",
+ "great vessel of heart",
+ "Abnormal aortic morphology",
"aorta morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "great vessel of heart morphology phenotype",
"aorta",
- "great vessel of heart",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "longitudinal arch of pes",
+ "Pes planus",
"flat anatomical entity",
+ "flattened anatomical entity",
"shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
+ "trunk region element physiology phenotype",
+ "Toe syndactyly",
"fused anatomical entity and pedal digit",
+ "incomplete closing of the anatomical wall",
+ "pedal digit phenotype",
"anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
+ "platelet",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
"growth",
- "anatomical entity mass phenotype",
+ "radius bone",
+ "growth phenotype",
"Weight loss",
- "developmental process rate phenotype",
+ "obsolete cell",
+ "material anatomical entity mass phenotype",
+ "Decreased body weight",
"Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "anatomical structure mass phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal calvaria morphology",
+ "frontal cortex morphology phenotype",
+ "neurocranium morphology phenotype",
+ "olfactory system morphology phenotype",
+ "cranium morphology phenotype",
+ "Puberty and gonadal disorders",
+ "central nervous system cell part cluster",
+ "hypertrophic multicellular anatomical structure",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "shape of frontal cortex phenotype",
+ "primary subdivision of skull",
+ "cranium",
+ "frontal cortex",
+ "gray matter",
+ "dermal bone",
+ "aplasia or hypoplasia of skull",
+ "frontal lobe",
+ "pallium",
+ "prominent forehead",
+ "brain gray matter phenotype",
+ "forehead",
+ "tetrapod frontal bone",
"neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
+ "gray matter of forebrain phenotype",
+ "decreased number of cell",
+ "gray matter phenotype",
+ "cortex of cerebral lobe",
+ "primary subdivision of cranial skeletal system",
+ "vault of skull",
+ "cardiovascular system physiology phenotype",
+ "prominent anatomical entity",
+ "neurocranium",
+ "bone of craniocervical region",
+ "cranial bone",
+ "intramembranous bone",
+ "membrane bone",
"heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
+ "gray matter of forebrain",
"anus",
- "membrane bone",
- "zeugopodial skeleton",
+ "closing of the multicellular anatomical structure",
+ "material anatomical entity atresia",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "closing of the anatomical structure",
+ "anus morphology phenotype",
+ "bone marrow",
+ "anus atresia",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "Abnormal ileum morphology",
+ "parasympathetic nervous system",
+ "large intestine morphology phenotype",
+ "autonomic nervous system",
+ "Abnormal peripheral nervous system ganglion morphology",
+ "Abnormal autonomic nervous system morphology",
+ "ganglion of peripheral nervous system",
+ "Abnormal large intestine morphology",
+ "interatrial septum morphology phenotype",
+ "Abnormality of the autonomic nervous system",
+ "haemolymphatic fluid",
+ "ganglion morphology phenotype",
+ "enteric nervous system",
+ "Aganglionic megacolon",
+ "enteric ganglion",
+ "Megacolon",
+ "lower digestive tract",
+ "Abnormal ganglion morphology",
+ "stylopod",
+ "late embryo phenotype",
+ "valve",
+ "Abnormal femur morphology",
+ "decreased qualitatively pigmentation",
+ "increased length of the head or neck skin",
"innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
+ "hip joint morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "protruding anatomical entity",
+ "Abnormal pelvic girdle bone morphology",
+ "pelvic region of trunk",
"hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
+ "appendage girdle region",
+ "girdle skeleton",
+ "trunk bone",
+ "Lower extremity joint dislocation",
+ "Abnormal hip bone morphology",
+ "skeletal joint morphology phenotype",
+ "heart layer morphology phenotype",
+ "hip dislocation",
+ "skeletal joint phenotype",
+ "synovial joint morphology phenotype",
+ "girdle bone/zone",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "Hip dislocation",
+ "outflow part of left ventricle morphology phenotype",
+ "vertebral column",
+ "tube closure phenotype",
+ "ileum",
+ "embryonic tissue",
+ "forehead phenotype",
+ "neural tube closure",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "Vertebral arch anomaly",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "decreased pigmentation in multicellular organism",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
"anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
+ "Abnormal ear physiology",
"ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
+ "Abnormality of the vasculature",
+ "incomplete closing of the anatomical entity",
+ "postcranial axial skeleton",
+ "localised multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis",
+ "tube formation",
"eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "tissue morphogenesis",
+ "incomplete closing of the vessel",
+ "presumptive structure",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "entire sense organ system",
+ "formed organ part",
+ "bony vertebral centrum",
+ "cranial neuron projection bundle",
+ "Clubbing",
+ "head bone",
+ "shape digit",
+ "peripheral nervous system morphology phenotype",
+ "Abnormal spinal cord morphology",
+ "nerve phenotype",
+ "developmental process",
+ "increased size of the heart right ventricle",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "abdominal segment bone",
+ "Cranial nerve paralysis",
+ "increased number of multicellular anatomical structure",
+ "Spinal dysraphism",
+ "Frontal bossing",
+ "nerve",
+ "esophagus morphology phenotype",
+ "cranial nerve",
+ "internal naris atresia",
+ "musculature of body",
+ "nerve of head region",
+ "phenotype",
+ "anatomical space",
+ "pelvic appendage",
+ "body part movement",
+ "cranial nerve phenotype",
+ "artery phenotype",
+ "autopodial extension",
+ "Abnormal cranial nerve physiology",
+ "appendage girdle complex",
"Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
+ "reproductive process",
+ "kidney phenotype",
+ "limb morphology phenotype",
+ "cognition",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
"nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
+ "decreased functionality of the myocardium",
+ "limb bone phenotype",
+ "face",
+ "multicellular anatomical structure mass phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "bone of pectoral complex morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "vertebral column phenotype",
+ "Hernia of the abdominal wall",
+ "autopodial extension phenotype",
+ "Abnormal forearm bone morphology",
+ "forelimb zeugopod morphology phenotype",
+ "limb skeleton subdivision",
+ "femur",
+ "skull",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "vault of skull phenotype",
+ "epithelium development",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Abnormal peripheral nervous system morphology",
+ "arm bone phenotype",
+ "olfactory organ phenotype",
+ "multi-limb segment region phenotype",
+ "Nystagmus",
+ "esophagus",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "endochondral element phenotype",
+ "forelimb bone phenotype",
+ "bone element",
+ "decreased reproductive process",
"skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
+ "zeugopod",
+ "system development",
+ "pectoral appendage",
+ "deviation of manual digit 5 towards the middle",
+ "bony vertebral centrum morphology phenotype",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "olfactory system",
+ "Neoplasm by anatomical site",
+ "limb",
+ "increased size of the material anatomical entity",
+ "respiratory system",
"hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
+ "Small intestinal stenosis",
+ "flat longitudinal arch of pes",
+ "neuron projection bundle phenotype",
+ "Abnormal morphology of ulna",
+ "multicellular organismal reproductive process",
+ "Abnormality of the musculoskeletal system",
+ "Microcephaly",
+ "pectoral appendage skeleton",
+ "alimentary part of gastrointestinal system phenotype",
+ "ulna endochondral element",
+ "localised gonad",
+ "paired limb/fin",
+ "incomplete closing of the skeletal element",
+ "absent sperm",
+ "subdivision of skeleton",
+ "shape of forehead phenotype",
"endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
+ "decreased number of anatomical entity",
+ "Abnormal forebrain morphology",
+ "Abnormal forearm morphology",
"vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "vertebral element",
+ "pelvic region element phenotype",
+ "viscus",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "bone of free limb or fin",
+ "arch of centrum of vertebra phenotype",
+ "limb endochondral element",
+ "neural tube formation",
+ "neuron projection bundle",
+ "digestive system gland phenotype",
+ "increased length of the skin of eyelid",
"internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
+ "Abnormal appendicular skeleton morphology",
"paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
"Abnormal internal genitalia",
+ "localised testis",
+ "decreased qualitatively sensory perception of light stimulus",
+ "forelimb morphology phenotype",
+ "Myelodysplasia",
+ "Abnormal blood vessel morphology",
+ "parasympathetic ganglion",
+ "formed ectoderm-derived structure",
+ "decreased size of the arm bone",
+ "cardiovascular system phenotype",
+ "anatomical cluster phenotype",
+ "blood",
+ "Abnormal morphology of female internal genitalia",
+ "anatomical cluster",
+ "Functional abnormality of male internal genitalia",
+ "acropodium region",
+ "coronary vessel",
+ "cranial nerve physiology phenotype",
+ "ventricle of nervous system",
+ "paralysed anatomical entity",
+ "multi-limb segment region",
+ "blood vessel",
+ "compound organ",
+ "eye",
+ "venous system",
+ "outflow tract",
+ "germ cell",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "upper urinary tract phenotype",
+ "Abnormal jaw morphology",
+ "Meckel diverticulum",
+ "irregular bone",
+ "organism",
+ "secondary palate",
+ "male reproductive organ morphology phenotype",
"skeleton of digitopodium",
- "anatomical entity atresia",
+ "myeloid cell homeostasis",
+ "glans penis",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "Abnormal preputium morphology",
+ "penis morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "mouth phenotype",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
+ "cornea morphology phenotype",
+ "leg bone",
+ "Abnormal skin morphology",
+ "multi-tissue structure phenotype",
+ "opaque anatomical entity",
+ "decreased anatomical structure mass",
+ "forelimb zeugopod bone phenotype",
+ "pigmentation",
+ "developing anatomical structure",
+ "skeleton of limb",
+ "Abnormality of skin pigmentation",
+ "female reproductive system",
+ "dermal skeleton",
+ "phenotypic effect",
+ "aplasia or hypoplasia of iris",
+ "pigmentation phenotype",
+ "heart left ventricle morphology phenotype",
"individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
+ "Umbilical hernia",
+ "Arteriovenous malformation",
+ "increased size of the multi-tissue structure",
+ "head bone morphology phenotype",
+ "Abnormal eye morphology",
+ "incomplete closing of the secondary palate",
+ "increased length of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "integument",
+ "Abnormal connection of the cardiac segments",
+ "leg phenotype",
+ "cardiac atrium",
+ "Abnormality of the integument",
+ "genitourinary system phenotype",
+ "Abnormality of the forehead",
"mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
+ "multicellular organismal process",
+ "bone of pelvic complex",
+ "system process",
+ "sensory perception",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "process",
+ "Abnormal shape of the frontal region",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "autopod endochondral element",
"shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
+ "mandible phenotype",
+ "autonomic ganglion",
+ "axial skeletal system",
+ "brain",
+ "ventricular system of central nervous system",
+ "neural crest-derived structure, curved phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "musculature phenotype",
+ "reproductive system physiology phenotype",
+ "myeloid cell differentiation",
+ "increased number of organ part",
+ "decreased biological_process in skin of body",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "decreased length of forelimb zeugopod bone",
+ "digit 1 plus metapodial segment",
+ "Abnormality of the anus",
+ "cerebrospinal fluid morphology phenotype",
+ "synovial joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "facial bone",
+ "increased number of brain ventricle",
+ "Recurrent infections",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "size of heart right ventricle phenotype",
+ "Abnormality of the urinary system",
+ "incomplete closing of the neural crest-derived structure",
+ "Abnormal cerebrospinal fluid morphology",
+ "external soft tissue zone",
+ "Abnormal mandible morphology",
+ "skeletal system phenotype",
+ "male gamete generation phenotype",
"digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
+ "head",
+ "internal genitalia phenotype",
"bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
+ "Abnormal esophagus morphology",
+ "increased number of anatomical structure in the cerebrospinal fluid",
"organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
+ "multicellular organismal-level homeostasis",
"chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
+ "anterior segment of eyeball",
+ "Abnormal morphology of the great vessels",
+ "pectoral complex",
+ "Abnormality of the peripheral nervous system",
+ "trunk region element",
+ "endoderm-derived structure",
+ "lateral structure",
"Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
+ "digestive system element",
+ "Abnormal digestive system morphology",
+ "Tracheoesophageal fistula",
+ "spinal cord morphology phenotype",
+ "Abnormal cardiac atrium morphology",
+ "Neoplasm",
+ "Abnormal intestine morphology",
+ "nervous system process",
+ "limb bone morphology phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "Abnormal gastrointestinal tract morphology",
+ "embryonic morphogenesis",
+ "phalanx of pes morphology phenotype",
+ "body proper",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "tunica fibrosa of eyeball",
+ "anatomical structure physiology phenotype",
+ "mesoderm-derived structure phenotype",
+ "appendage",
+ "Abnormal facial shape",
+ "location of anatomical entity phenotype",
+ "tube morphogenesis",
+ "camera-type eye morphology phenotype",
+ "brain gray matter",
+ "embryo development",
+ "Abnormal tracheobronchial morphology",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "size of brain ventricle phenotype",
+ "limb phenotype",
+ "Abnormal anterior eye segment morphology",
+ "organ subunit",
+ "absent sperm in the semen",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "connective tissue phenotype",
"increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
+ "digestive tract",
+ "face morphology phenotype",
+ "Abnormal external genitalia",
+ "arm phenotype",
+ "digestive system phenotype",
+ "Abnormal respiratory system physiology",
+ "reproductive structure physiology phenotype",
+ "Short stature",
+ "Abnormality of the vertebral column",
+ "reproductive organ physiology phenotype",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "male reproductive organ",
+ "sensory perception of mechanical stimulus phenotype",
+ "internal naris phenotype",
+ "disconnected anatomical group",
+ "cerebral cortex",
+ "tracheobronchial tree",
+ "decreased size of the forelimb bone",
+ "tube development",
+ "multicellular anatomical structure phenotype",
+ "Abnormal toe morphology",
+ "Anemia",
+ "morphological feature",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Abnormality of the urethra",
+ "immaterial entity",
+ "Abnormal systemic arterial morphology",
+ "renal system",
"peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
+ "Abnormal anterior chamber morphology",
+ "zeugopodial skeleton",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "immune system",
+ "endocrine system",
+ "sense organ physiology phenotype",
+ "ear physiology phenotype",
+ "uterus morphology phenotype",
+ "Abnormal neural tube morphology",
+ "Abnormal enteric ganglion morphology",
+ "excretory system",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "male reproductive system",
+ "forelimb endochondral element",
+ "physiologic nystagmus",
+ "hemolymphoid system",
+ "organ subunit phenotype",
+ "respiratory tract",
+ "amniotic fluid phenotype",
+ "respiratory tube",
+ "glans",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "developmental process phenotype",
+ "limb endochondral element phenotype",
+ "blood vasculature",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "increased reflex",
+ "long bone",
+ "material entity",
"cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
+ "number of sperm phenotype",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Slanting of the palpebral fissure",
+ "decreased length of limb bone",
+ "structure with developmental contribution from neural crest",
+ "intromittent organ phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "pelvic girdle bone/zone morphology phenotype",
+ "Neural tube defect",
+ "prepuce",
+ "decreased male gamete generation",
+ "organ system subdivision",
"Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
+ "skeletal system morphology phenotype",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "Abnormal peripheral nerve morphology by anatomical site",
+ "independent continuant",
+ "anatomical line between pupils",
+ "reproductive system",
+ "thoracic cavity element",
+ "skeleton",
+ "multicellular organism",
+ "Abnormality of the orbital region",
"decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
+ "roof of mouth",
+ "neural tube development",
+ "external genitalia",
+ "camera-type eye",
+ "decreased number of myeloid cell",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "forelimb zeugopod bone",
"head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "penis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "Abnormal form of the vertebral bodies",
+ "upper urinary tract",
+ "right cardiac chamber",
+ "manual digitopodium region",
+ "gray matter of telencephalon",
+ "urethral meatus",
"dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
+ "Abnormality of the cardiovascular system",
+ "central nervous system gray matter layer",
+ "pedal digit bone",
+ "increased length of the non-material anatomical boundary",
+ "chamber of eyeball",
+ "Clinodactyly",
+ "palatine uvula",
+ "reproductive structure phenotype",
+ "quality",
+ "central nervous system cell part cluster phenotype",
+ "anatomical collection phenotype",
+ "Abnormal toe phalanx morphology",
+ "arch of centrum of vertebra",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "increased length of the skin of face",
+ "decreased size of the limb bone",
+ "central nervous system morphology phenotype",
+ "shape of external ear phenotype",
+ "anatomical conduit phenotype",
+ "skeleton of lower jaw",
+ "common carotid artery plus branches morphology phenotype",
+ "eyelid",
"endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
+ "Abnormality of the ear",
+ "decreased qualitatively developmental process involved in reproduction",
+ "Abnormal male urethral meatus morphology",
+ "reproductive structure",
+ "epithelial tube",
+ "decreased height of the anatomical entity",
+ "decreased developmental process involved in reproduction",
+ "Abnormality of the eye",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "anatomical system",
"upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
+ "sense organ phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "Abnormality of reproductive system physiology",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "pedal digit phalanx endochondral element",
+ "organ",
+ "pedal digit plus metapodial segment",
+ "Phenotypic abnormality",
+ "multicellular anatomical structure physiology phenotype",
+ "increased number of organ component layer",
+ "nervous system",
+ "anatomical projection phenotype",
+ "anatomical system physiology phenotype",
+ "Displacement of the urethral meatus",
+ "organ part physiology phenotype",
+ "skin of body morphology phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "Abnormality of immune system physiology",
+ "localised anatomical entity",
+ "organ system subdivision phenotype",
"simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
+ "homeostatic process phenotype",
+ "behavior",
+ "abdomen element",
+ "protruding eyeball of camera-type eye",
+ "embryonic epithelial tube formation",
+ "respiratory airway",
+ "subdivision of trunk",
+ "multicellular organismal movement",
+ "fused anatomical entity and anatomical entity",
"neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
+ "male urethra",
+ "organ part",
+ "Decreased bone element mass density",
+ "material anatomical entity phenotype",
+ "Short palpebral fissure",
+ "umbilicus morphology phenotype",
+ "Abnormal skeletal morphology",
+ "increased pigmentation",
+ "Abnormality of the genital system",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "Abnormal ventriculoarterial connection",
"alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
+ "shape of continuant phenotype",
+ "deviation of digit towards the middle",
+ "lower urinary tract",
"Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
+ "jaw region",
+ "artery",
+ "telencephalon phenotype",
+ "curved anatomical entity",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "subdivision of organism along appendicular axis",
+ "decreased length of endochondral element",
+ "Abnormal cell morphology",
+ "Abnormal palate morphology",
+ "articulation",
+ "cornea, curved phenotype",
+ "mesoderm-derived structure",
+ "autopod bone",
+ "system",
+ "anatomical structure, curved phenotype",
+ "brain morphology phenotype",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "musculoskeletal movement phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "transparent eye structure",
+ "dentary",
+ "behavior process phenotype",
+ "femur endochondral element",
+ "organ component layer phenotype",
+ "subdivision of tube",
+ "Abnormality of the inner ear",
+ "vertebra morphology phenotype",
+ "Decreased fertility in males",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "subdivision of oviduct",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "cerebral cortex morphology phenotype",
+ "urethra phenotype",
+ "Abnormality of the lower urinary tract",
+ "Hypogonadism",
+ "urethral opening",
+ "arm bone",
+ "skeleton of pectoral complex",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "increased size of the zone of skin",
+ "cornea phenotype",
+ "formed chamber of eyeball",
+ "Decreased head circumference",
+ "anatomical entity",
+ "localised material anatomical entity",
+ "ear phenotype",
+ "musculoskeletal movement",
+ "decreased qualitatively biological_process",
+ "increased volume of anatomical entity",
+ "forelimb bone",
+ "Abnormal uvula morphology",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "Intellectual disability",
+ "embryonic structure",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "proximo-distal subdivision of respiratory tract",
+ "Abnormal penis morphology",
+ "appendage phenotype",
+ "Hypoplastic facial bones",
+ "organism subdivision phenotype",
+ "arm",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "ocular surface region",
+ "thoracic segment of trunk",
+ "bone of jaw phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
"tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
"pes bone",
+ "renal pelvis/ureter",
+ "male urethral meatus",
+ "primary neural tube formation",
+ "Abnormality of the respiratory system",
+ "segment of autopod",
+ "ductus arteriosus morphology phenotype",
+ "increased pigmentation in skin of body",
+ "cranial neuron projection bundle phenotype",
+ "Abnormal male reproductive system physiology",
+ "reproductive organ",
+ "Abnormality of the digestive system",
+ "anatomical structure development",
+ "arterial blood vessel",
+ "decreased spermatogenesis",
+ "limb segment",
+ "external genitalia phenotype",
+ "nervous system cell part layer",
+ "aplasia or hypoplasia of uvea",
+ "size of palpebral fissure phenotype",
+ "vestibulo-ocular reflex",
"neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
+ "Abnormality of refraction",
+ "digit 5",
+ "Abnormal curvature of the vertebral column",
+ "multi cell part structure phenotype",
+ "ureter phenotype",
+ "hematopoietic system",
+ "multicellular anatomical structure",
+ "reproductive system phenotype",
+ "hindlimb endochondral element",
+ "ventricular system of brain",
+ "innominate bone morphology phenotype",
+ "eye phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal vertebral morphology",
+ "Abnormal male external genitalia morphology",
+ "localised reproductive organ",
+ "glandular system",
+ "myocardium",
+ "external ear",
+ "decreased length of bone of appendage girdle complex",
+ "bone of appendage girdle complex",
+ "anatomical wall",
+ "closing of the material anatomical entity",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "sensory system",
+ "Scoliosis",
+ "multicellular anatomical structure, curved phenotype",
+ "Almond-shaped palpebral fissure",
+ "response to stimulus phenotype",
+ "Abdominal wall defect",
"material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere",
- ],
- },
- {
- "id": "MONDO:1011503",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, dog",
- "description": "Fanconi syndrome that occurs in dog.",
- "provided_by": "phenio_nodes",
- "xref": ["OMIA:000366-9615"],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0007600",
- "category": "biolink:Disease",
- "name": "primary Fanconi syndrome",
- "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.",
- "provided_by": "phenio_nodes",
- "xref": ["GARD:9118", "MEDGEN:341765", "NCIT:C123229", "Orphanet:3337", "UMLS:C1857395"],
- "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0002206",
- "HP:0001943",
- "HP:0003774",
- "HP:0002150",
- "HP:0001944",
- "HP:0012622",
- "HP:0012606",
- "HP:0004912",
- "HP:0003537",
- "HP:0003234",
- "HP:0003081",
- "HP:0002900",
- "HP:0002749",
- "HP:0002659",
- "HP:0002653",
- "HP:0002148",
- "HP:0001824",
- "HP:0001324",
- "HP:0032943",
- "HP:0004918",
- "HP:0004910",
- "HP:0003646",
- "HP:0003149",
- "HP:0003126",
- "HP:0003076",
- "HP:0002909",
- "HP:0002049",
- "HP:0001510",
- "HP:0000117",
- ],
- "has_phenotype_label": [
- "Pulmonary fibrosis",
- "Hypoglycemia",
- "Stage 5 chronic kidney disease",
- "Hypercalciuria",
- "Dehydration",
- "Chronic kidney disease",
- "Renal sodium wasting",
- "Hypophosphatemic rickets",
- "Hypouricemia",
- "Decreased circulating carnitine concentration",
- "Increased urinary potassium",
- "Hypokalemia",
- "Osteomalacia",
- "Increased susceptibility to fractures",
- "Bone pain",
- "Hypophosphatemia",
- "Weight loss",
- "Muscle weakness",
- "Abnormal urine pH",
- "Hyperchloremic metabolic acidosis",
- "Bicarbonate-wasting renal tubular acidosis",
- "Bicarbonaturia",
- "Hyperuricosuria",
- "Low-molecular-weight proteinuria",
- "Glycosuria",
- "Generalized aminoaciduria",
- "Proximal renal tubular acidosis",
- "Growth delay",
- "Renal phosphate wasting",
- ],
- "has_phenotype_count": 29,
- "has_phenotype_closure": [
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- "UPHENO:0000541",
- "UPHENO:0051739",
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- ],
- "has_phenotype_closure_label": [
- "Abnormal urine phosphate concentration",
- "Renal phosphate wasting",
- "delayed biological_process",
- "Growth delay",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "increased level of carboxylic acid in urine",
- "Glycosuria",
- "increased level of monosaccharide in urine",
- "primary amide",
- "organic amino compound",
- "Proximal renal tubular acidosis",
- "polypeptide",
- "Hyperuricosuria",
- "macromolecule",
- "increased level of purines",
- "Abnormal urinary organic compound level",
- "urine organic anion level phenotype",
- "hydrogencarbonate level phenotype",
- "decreased functionality of the material anatomical entity",
- "decreased functionality of the anatomical structure",
- "Renal tubular acidosis",
- "epithelial tube phenotype",
- "excretory tube physiology phenotype",
- "tissue phenotype",
- "tube physiology phenotype",
- "Bicarbonate-wasting renal tubular acidosis",
- "anatomical conduit physiology phenotype",
- "decreased functionality of the tissue",
- "renal tubule",
- "decreased functionality of the multicellular anatomical structure",
- "anatomical entity dysfunction in independent continuant",
- "nephron tubule phenotype",
- "Renal tubular dysfunction",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "excretory tube",
- "kidney epithelium",
- "tissue",
- "excretory tube phenotype",
- "epithelium phenotype",
- "decreased functionality of the kidney epithelium",
- "Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Abnormal urine pH",
- "muscle structure",
- "protein polypeptide chain",
- "muscle organ physiology phenotype",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Aciduria",
- "muscle organ phenotype",
- "Muscle weakness",
- "Decreased body weight",
- "material anatomical entity mass phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "Growth abnormality",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "hydrogencarbonate",
- "multicellular anatomical structure mass phenotype",
- "multicellular organism mass phenotype",
- "Pain",
- "Constitutional symptom",
- "musculoskeletal system physiology phenotype",
- "Abnormal musculoskeletal physiology",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "Osteomalacia",
- "cation",
- "blood potassium atom level phenotype",
- "blood cation level phenotype",
- "blood monovalent inorganic cation level phenotype",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "Generalized aminoaciduria",
- "Abnormal blood potassium concentration",
- "monovalent inorganic cation",
- "potassium atom level phenotype",
- "potassium atom",
- "urine glucose level phenotype",
- "Decreased anatomical entity mass",
- "Abnormality of mitochondrial metabolism",
- "polyatomic ion",
- "fatty acid level phenotype",
- "carnitine",
- "amino acid",
- "Abnormal circulating carnitine concentration",
- "Abnormality of the mitochondrion",
- "cell phenotype",
- "carbonyl compound",
- "urine phosphate level phenotype",
- "zwitterion",
- "organic acid",
- "blood carboxylic acid level phenotype",
- "epithelium",
- "Abnormal circulating monocarboxylic acid concentration",
- "decreased level of amino-acid betaine",
- "cytoplasm",
- "amino-acid betaine level phenotype",
- "monocarboxylic acid",
- "cellular_component",
- "amino-acid betaine",
- "Abnormal circulating fatty-acid concentration",
- "Abnormal circulating lipid concentration",
- "onium betaine",
- "fatty acid",
- "carboxylic acid",
- "fatty acid anion",
- "hydrogen molecular entity",
- "Abnormal cellular phenotype",
- "organic anion",
- "Abnormal circulating carboxylic acid concentration",
- "polyatomic anion",
- "oxide",
- "intracellular membrane-bounded organelle",
- "obsolete cell",
- "dipolar compound",
- "carboxylic acid anion",
- "Abnormality of body weight",
- "oxoacid",
- "increased level of hydrogencarbonate in urine",
- "carbon oxoacid",
- "oxoanion",
- "cellular anatomical entity",
- "Weight loss",
- "cellular_component phenotype",
- "Bone pain",
- "uric acid",
- "increased level of nitrogen molecular entity in blood",
- "nephron epithelium phenotype",
- "oxopurine",
- "hydroxides",
- "purines",
- "decreased level of purines",
- "heteropolycyclic compound",
- "heterobicyclic compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "nucleobase",
- "imidazopyrimidine",
- "Low-molecular-weight proteinuria",
- "intracellular anatomical structure",
- "organonitrogen heterocyclic compound",
- "urine hydrogencarbonate level phenotype",
- "decreased muscle organ strength",
- "organic heterobicyclic compound",
- "cyclic compound",
- "decreased functionality of the epithelium",
- "Decreased multicellular organism mass",
- "organic molecule",
- "Hyperchloremic metabolic acidosis",
- "quaternary nitrogen compound",
- "polycyclic compound",
- "aromatic compound",
- "decreased anatomical structure mass",
- "heterocyclic compound",
- "nitrogen molecular entity",
- "musculature",
- "musculature of body",
- "decreased level of phosphate in blood",
- "Abnormal urine carboxylic acid level",
- "blood carnitine level phenotype",
- "Reduced bone mineral density",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "bone element mass density phenotype",
- "musculoskeletal system phenotype",
- "monoatomic ion",
- "monoatomic entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "Abnormality of bone mineral density",
- "Hypouricemia",
- "musculoskeletal system",
- "anatomical entity mass density phenotype",
- "phosphoric acid derivative",
- "Abnormal circulating nucleobase concentration",
- "monosaccharide",
- "haemolymphatic fluid",
- "nephron tubule",
- "blood nucleobase level phenotype",
- "heteroarene",
- "organism substance",
- "occurrent",
- "decreased functionality of the epithelial tube",
- "Abnormal circulating fatty-acid anion concentration",
- "blood oxygen molecular entity level phenotype",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "process",
- "glucose homeostasis phenotype",
- "musculature of body phenotype",
- "Abnormality of blood and blood-forming tissues",
- "epithelium physiology phenotype",
- "abdominal segment of trunk",
- "excreta",
- "chemical entity",
- "molecular entity",
- "lung morphology phenotype",
- "organic ion",
- "kidney physiology phenotype",
- "organic molecular entity",
- "Pulmonary fibrosis",
- "main group molecular entity",
- "blood carbohydrate level phenotype",
- "anatomical collection phenotype",
- "mitochondrion phenotype",
- "blood chemical entity level phenotype",
- "heteroorganic entity",
- "increased level of potassium atom in urine",
- "trunk phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "lateral structure phenotype",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "endoderm-derived structure",
- "inorganic molecular entity",
- "metabolic process",
- "urine potassium atom level phenotype",
- "anatomical system",
- "Abnormal glucose homeostasis",
- "Abnormality of urine calcium concentration",
- "tube",
- "anatomical entity physiology phenotype",
- "carboxamide",
- "compound organ",
- "organic heteropolycyclic compound",
- "trunk region element",
- "quality",
- "Abnormal cellular physiology",
- "subdivision of trunk phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of organism along main body axis",
- "anatomical entity morphology in the respiratory system phenotype",
- "renal tubule phenotype",
- "organ",
- "aldose",
- "epithelial tube physiology phenotype",
- "ion",
- "nephron",
- "cell",
- "material anatomical entity phenotype",
- "decreased level of uric acid in blood",
- "Abnormal circulating organic compound concentration",
- "Abnormal muscle physiology",
- "blood organic molecular entity level phenotype",
- "carbon group molecular entity",
- "regulation of body fluid levels phenotype",
- "Abnormality of the musculoskeletal system",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "Abnormal lung morphology",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "blood monoatomic ion level phenotype",
- "material anatomical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "skeletal system",
- "carbohydrate",
- "blood fatty acid anion level phenotype",
- "subdivision of organism along main body axis phenotype",
- "Hypophosphatemia",
- "tube phenotype",
- "genitourinary system phenotype",
- "increased level of protein polypeptide chain in urine",
- "Increased urinary potassium",
- "Abnormal urine potassium concentration",
- "organic oxo compound",
- "Abnormality of metabolism/homeostasis",
- "organism subdivision phenotype",
- "increased level of chemical entity in blood",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "bicyclic compound",
- "renal system physiology phenotype",
- "Abnormal respiratory system physiology",
- "urine chemical entity level phenotype",
- "organ phenotype",
- "ossification",
- "Abnormal respiratory system morphology",
- "Abnormality of the respiratory system",
- "peptide",
- "Acidosis",
- "phenotype",
- "thoracic segment organ",
- "biological_process",
- "thoracic segment organ phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "Abnormal bone ossification",
- "homeostatic process",
- "carbohydrate homeostasis phenotype",
- "respiratory system phenotype",
- "carbon oxoanion",
- "anatomical conduit",
- "acid bodily fluid level phenotype",
- "lung fibrosis",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "haemolymphatic fluid phenotype",
- "urine uric acid level phenotype",
- "thoracic cavity element phenotype",
- "anatomical structure",
- "anion",
- "organ physiology phenotype",
- "nephron epithelium",
- "lipid",
- "homeostatic process phenotype",
- "organism subdivision",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "oxoacid derivative",
- "respiration organ",
- "thoracic cavity element",
- "proximo-distal subdivision of respiratory tract",
- "subdivision of tube",
- "anatomical conduit phenotype",
- "viscus",
- "organ system subdivision",
- "decreased functionality of the anatomical entity",
- "organic cyclic compound",
- "organ part phenotype",
- "molecule",
- "hematopoietic system phenotype",
- "trunk",
- "s-block element atom",
- "multicellular anatomical structure phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "cavitated compound organ physiology phenotype",
- "pair of lungs",
- "atom",
- "anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "Abnormal circulating nitrogen compound concentration",
- "viscus phenotype",
- "organ part",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "carbohydrates and carbohydrate derivatives",
- "alkaline earth metal atom",
- "subdivision of tube phenotype",
- "upper urinary tract phenotype",
- "specifically dependent continuant",
- "Abnormal pulmonary interstitial morphology",
- "inorganic cation",
- "urine sodium atom level phenotype",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "taxon specific phenotype",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "entity",
- "body proper",
- "respiration organ phenotype",
- "independent continuant",
- "organism substance phenotype",
- "regulation of body fluid levels",
- "multicellular organism",
- "lateral structure",
- "Hypoglycemia",
- "lower respiratory tract",
- "heteroatomic molecular entity",
- "All",
- "bodily fluid",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "respiratory system",
- "respiratory airway",
- "respiratory system physiology phenotype",
- "anatomical system phenotype",
- "organooxygen compound",
- "glucose homeostasis",
- "biological regulation",
- "bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "Abnormal circulating metabolite concentration",
- "multicellular organism chemical entity level phenotype",
- "increased level of uric acid in urine",
- "decreased functionality of the excretory tube",
- "carbohydrate homeostasis",
- "abdomen element phenotype",
- "decreased functionality of the anatomical conduit",
- "hexose",
- "blood glucose level phenotype",
- "Abnormal circulating carbohydrate concentration",
- "Abnormal renal physiology",
- "Abnormal urine sodium concentration",
- "chemical homeostasis phenotype",
- "uriniferous tubule",
- "abdomen",
- "kidney",
- "Abnormal blood glucose concentration",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "thoracic segment of trunk",
- "chemical homeostasis",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "epithelial tube",
- "blood lipid level phenotype",
- "blood fatty acid level phenotype",
- "Abnormality of the upper urinary tract",
- "abdominal segment element physiology phenotype",
- "amino acid derivative",
- "phosphorus oxoacids and derivatives",
- "aldohexose",
- "mitochondrion",
- "compound organ physiology phenotype",
- "calcium atom level phenotype",
- "organic heterocyclic compound",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "Chronic kidney disease",
- "monocarboxylic acid anion",
- "abdominal segment element",
- "cavitated compound organ",
- "material entity",
- "abdomen element",
- "renal system phenotype",
- "tissue physiology phenotype",
- "cavitated compound organ phenotype",
- "renal system",
- "growth",
- "inorganic ion",
- "Hypophosphatemic rickets",
- "lateral structure physiology phenotype",
- "decreased level of chemical entity in blood",
- "Decreased circulating carnitine concentration",
- "intracellular organelle",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element physiology phenotype",
- "Renal insufficiency",
- "decreased anatomical entity strength",
- "glucose",
- "sodium atom level phenotype",
- "renal/urinary system phenotype",
- "Renal sodium wasting",
- "trunk region element physiology phenotype",
- "Abnormal skeletal morphology",
- "regulation of biological quality phenotype",
- "decreased role blood level",
- "kidney phenotype",
- "anatomical entity",
- "upper urinary tract",
- "calcium atom",
- "decreased level of carnitine in blood",
- "lung phenotype",
- "Dehydration",
- "abdominal segment element phenotype",
- "amino acid derivative level phenotype",
- "phosphate",
- "blood monocarboxylic acid level phenotype",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormality of the kidney",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "urine calcium atom level phenotype",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "Stage 5 chronic kidney disease",
- "increased level of calcium atom in urine",
- "Hypokalemia",
- "Hypercalciuria",
- "respiratory system morphology phenotype",
- "increased level of chemical entity",
- "Abnormality of fluid regulation",
- "amide",
- "Abnormality of urine bicarbonate level",
- "phosphorus oxoacid derivative",
- "regulation of biological quality",
- "urine",
- "biological regulation phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "ammonium betaine",
- "sodium atom",
- "alkali metal atom",
- "phosphate level phenotype",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "Abnormality of urinary uric acid level",
- "Bicarbonaturia",
- "decreased level of chemical entity",
- "Abnormal bone structure",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "organic aromatic compound",
- "elemental molecular entity",
- "blood uric acid level phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "Organic aciduria",
- "membrane-bounded organelle",
- "blood phosphate level phenotype",
- "blood phenotype",
- "multicellular organismal process",
- "organelle",
- "skeletal system phenotype",
- ],
- },
- {
- "id": "MONDO:0060779",
- "category": "biolink:Disease",
- "name": "acquired Fanconi syndrome",
- "description": "Fanconi Syndrome caused by exposure to noxious agents.",
- "provided_by": "phenio_nodes",
- "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"],
- "synonym": ["acquired Fanconi syndrome"],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
- "provided_by": "phenio_nodes",
- "xref": [
- "DOID:1062",
- "GARD:9120",
- "MEDGEN:4653",
- "MESH:D005198",
- "NANDO:2100027",
- "NANDO:2200187",
- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624",
- ],
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome",
- ],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0009217",
- "category": "biolink:Disease",
- "name": "Fanconi-like syndrome",
- "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
- "provided_by": "phenio_nodes",
- "xref": [
- "DOID:0090066",
- "MEDGEN:56237",
- "MESH:C536855",
- "OMIM:227850",
- "SCTID:236469003",
- "UMLS:C0151638",
- ],
- "synonym": ["Fanconi-like syndrome"],
- "namespace": "MONDO",
- "has_phenotype": ["HP:0002754", "HP:0001876", "HP:0005939", "HP:0002783", "HP:0007606"],
- "has_phenotype_label": [
- "Osteomyelitis",
- "Pancytopenia",
- "Multiple bilateral pneumothoraces",
- "Recurrent lower respiratory tract infections",
- "Multiple cutaneous malignancies",
- ],
- "has_phenotype_count": 5,
- "has_phenotype_closure": [
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- "UPHENO:0004459",
- ],
- "has_phenotype_closure_label": [
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "ectoderm-derived structure phenotype",
- "integument",
- "Neoplasm",
- "integumental system",
- "skin of body",
- "integumental system phenotype",
- "Recurrent infections",
- "Recurrent respiratory infections",
- "Unusual infection",
- "lateral structure phenotype",
- "respiratory airway",
- "compound organ",
- "trunk region element",
- "serous sac",
- "respiratory system",
- "cellular organisms",
- "endoderm-derived structure",
- "pleura phenotype",
- "Eumetazoa",
- "pleural sac",
- "integument phenotype",
- "lung",
- "organ part phenotype",
- "respiratory system physiology phenotype",
- "mixed endoderm/mesoderm-derived structure phenotype",
- "subdivision of trunk",
- "respiratory tract",
- "serous membrane",
- "subdivision of tube",
- "Abnormal lung morphology",
- "subdivision of tube phenotype",
- "Neoplasm of the skin",
- "pleura",
- "Eukaryota",
- "organ phenotype",
- "compound organ phenotype",
- "serous membrane phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "multi-tissue structure phenotype",
- "Abnormal pleura morphology",
- "proximo-distal subdivision of respiratory tract",
- "thoracic cavity element",
- "body proper",
- "Opisthokonta",
- "viscus",
- "respiratory system phenotype",
- "trunk",
- "anatomical conduit",
- "organism subdivision",
- "ectoderm-derived structure",
- "pleura morphology phenotype",
- "tube phenotype",
- "decreased number of myeloid cell",
- "cell",
- "mesoderm-derived structure phenotype",
- "Abnormality of thrombocytes",
- "Pneumothorax",
- "Abnormal myeloid cell morphology",
- "mixed endoderm/mesoderm-derived structure",
- "number of platelet phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "Multiple cutaneous malignancies",
- "Abnormal respiratory system morphology",
- "blood cell phenotype",
- "Recurrent lower respiratory tract infections",
- "decreased number of anatomical structure",
- "specifically dependent continuant",
- "biogenic amine secreting cell",
- "immune system phenotype",
- "increased defense response in bone element",
- "increased biological_process in bone element",
- "multicellular organism phenotype",
- "material anatomical entity",
- "multicellular anatomical structure",
- "increased response to stress in bone element",
- "material anatomical entity phenotype",
- "anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "tube",
- "anatomical entity physiology phenotype",
- "Abnormality of the skeletal system",
- "musculoskeletal system physiology phenotype",
- "anatomical structure phenotype",
- "lower respiratory tract",
- "increased response to stimulus",
- "lateral structure",
- "platelet phenotype",
- "response to stimulus",
- "skeletal system phenotype",
- "biological_process",
- "thoracic segment organ",
- "increased qualitatively response to stimulus",
- "multi-tissue structure",
- "continuant",
- "Abnormal inflammatory response",
- "anatomical structure",
- "response to stimulus phenotype",
- "anucleate cell",
- "skin of body phenotype",
- "Abnormality of the skin",
- "inflammatory response",
- "biological_process rate phenotype",
- "anatomical wall phenotype",
- "organ system subdivision phenotype",
- "All",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "number of cell phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "Abnormal musculoskeletal physiology",
- "independent continuant",
- "defense response",
- "multicellular organism",
- "Multiple bilateral pneumothoraces",
- "Metazoa",
- "occurrent",
- "increased biological_process",
- "Respiratory tract infection",
- "disconnected anatomical group",
- "musculature phenotype",
- "Increased inflammatory response",
- "increased inflammatory response",
- "musculature of body phenotype",
- "anatomical entity",
- "musculoskeletal system",
- "immune system",
- "phenotype",
- "Abnormality of immune system physiology",
- "increased qualitatively biological_process",
- "process",
- "Abnormality of the immune system",
- "pair of lungs",
- "immune system physiology phenotype",
- "immune system morphology phenotype",
- "organism",
- "Abnormal cellular phenotype",
- "quality",
- "Abnormal respiratory system physiology",
- "anatomical entity phenotype",
- "oxygen accumulating cell",
- "biological_process phenotype",
- "Osteomyelitis",
- "inflammatory response phenotype",
- "anatomical entity morphology phenotype",
- "response to stress",
- "bone element",
- "musculature of body",
- "Abnormality of the integument",
- "main body axis",
- "musculature",
- "number of anatomical enitites of type anatomical structure phenotype",
- "proximo-distal subdivision of respiratory tract phenotype",
- "skeletal system",
- "Abnormality of the respiratory system",
- "response to stress phenotype",
- "increased inflammatory response in bone element",
- "Abnormal cell morphology",
- "decreased number of platelet",
- "musculoskeletal system phenotype",
- "anatomical system",
- "thoracic segment of trunk",
- "increased qualitatively inflammatory response",
- "non-connected functional system",
- "mesoderm-derived structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
- "decreased number of material anatomical entity",
- "increased response to stimulus in bone element",
- "Abnormal bone marrow cell morphology",
- "decreased number of anatomical entity",
- "Abnormal leukocyte morphology",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "tissue",
- "organ",
- "root",
- "multicellular anatomical structure phenotype",
- "serotonin secreting cell",
- "hematopoietic cell",
- "hemolymphoid system",
- "erythroid lineage cell",
- "respiratory system morphology phenotype",
- "Thrombocytopenia",
- "skeletal element",
- "Abnormal platelet morphology",
- "bone marrow",
- "Abnormal cellular immune system morphology",
- "taxon specific phenotype",
- "Abnormal immune system morphology",
- "Abnormality of multiple cell lineages in the bone marrow",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "defense response phenotype",
- "multicellular organism morphology phenotype",
- "subdivision of organism along main body axis",
- "material entity",
- "leukocyte",
- "organ part",
- "blood cell",
- "myeloid cell",
- "entity",
- "number of hematopoietic cell phenotype",
- "platelet",
- "Abnormality of blood and blood-forming tissues",
- "erythrocyte",
- "bone cell",
- "respiration organ",
- "bone marrow cell",
- "decreased number of hematopoietic cell",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "hematopoietic system phenotype",
- "anatomical wall",
- "Pancytopenia",
- "leukocyte morphology phenotype",
- "Abnormal skeletal morphology",
- "Abnormal leukocyte count",
- "secretory cell",
- "motile cell",
- "cell phenotype",
- "nucleate cell",
- "eukaryotic cell",
- "hematopoietic system",
- "Abnormal platelet count",
- ],
- },
- {
- "id": "MONDO:1011504",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, horse",
- "description": "Fanconi syndrome that occurs in horse.",
- "provided_by": "phenio_nodes",
- "xref": ["OMIA:000366-9796"],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0060778",
- "category": "biolink:Disease",
- "name": "adult Fanconi syndrome",
- "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
- "provided_by": "phenio_nodes",
- "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
- "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
- "namespace": "MONDO",
- "has_phenotype": ["HP:0003581"],
- "has_phenotype_count": 1,
- "has_phenotype_closure": ["HP:0003581"],
- },
- {
- "id": "MONDO:1011502",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, cattle",
- "description": "Fanconi syndrome that occurs in cattle.",
- "provided_by": "phenio_nodes",
- "xref": ["OMIA:000366-9913"],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0013247",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 2",
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0080758", "GARD:15655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"],
- "synonym": [
- "FRTS2",
- "Fanconi renotubular syndrome 2",
- "Fanconi renotubular syndrome type 2",
- "Fanconi syndrome caused by mutation in SLC34A1",
- "SLC34A1 Fanconi syndrome",
- ],
- "namespace": "MONDO",
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- "HP:0003165",
- "HP:0004322",
- "HP:0002653",
- "HP:0012213",
- "HP:0002150",
- "HP:0000083",
- ],
- "has_phenotype_label": [
- "Hypophosphatemia",
- "Proximal tubulopathy",
- "Recurrent fractures",
- "Osteomalacia",
- "Renal phosphate wasting",
- "Rickets",
- "Osteopenia",
- "Generalized aminoaciduria",
- "High serum calcitriol",
- "Proteinuria",
- "Glycosuria",
- "Elevated circulating parathyroid hormone level",
- "Short stature",
- "Bone pain",
- "Decreased glomerular filtration rate",
- "Hypercalciuria",
- "Renal insufficiency",
- ],
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- ],
- "has_phenotype_closure_label": [
- "Renal insufficiency",
- "Hypercalciuria",
- "increased level of calcium atom in urine",
- "s-block element atom",
- "urine calcium atom level phenotype",
- "calcium atom",
- "atom",
- "calcium atom level phenotype",
- "Abnormality of urine calcium concentration",
- "Abnormal glomerular filtration rate",
- "Decreased glomerular filtration rate",
- "Bone pain",
- "Pain",
- "Constitutional symptom",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "growth phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "decreased size of the multicellular organism",
- "blood protein polypeptide chain level phenotype",
- "blood organic amino compound level phenotype",
- "non-connected functional system",
- "increased level of chemical entity in blood serum",
- "protein level phenotype",
- "Abnormal circulating hormone concentration",
- "Hyperproteinemia",
- "Abnormal circulating organic compound concentration",
- "increased level of parathyroid hormone in blood",
- "Abnormal circulating protein concentration",
- "role blood serum level phenotype",
- "Abnormal circulating organic amino compound concentration",
- "increased blood serum role level",
- "Abnormal circulating nitrogen compound concentration",
- "blood serum chemical entity level phenotype",
- "increased blood serum base level",
- "endocrine system",
- "blood serum",
- "glandular system",
- "protein-containing molecular entity",
- "Acute phase response",
- "amino acid chain",
- "disconnected anatomical group",
- "blood plasma chemical entity level phenotype",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormality of the endocrine system",
- "Abnormal urinary organic compound level",
- "increased level of monosaccharide in urine",
- "alkaline earth metal atom",
- "carbohydrates and carbohydrate derivatives",
- "biomacromolecule",
- "macromolecule",
- "polypeptide",
- "protein polypeptide chain",
- "metabolic process phenotype",
- "small molecule metabolic process phenotype",
- "small molecule metabolic process",
- "hormone blood level phenotype",
- "size of multicellular organism phenotype",
- "increased level of chemical entity in blood plasma",
- "steroid metabolic process",
- "fat-soluble vitamin metabolic process",
- "increased bodily fluid role level",
- "D3 vitamins",
- "increased level of lipid in blood",
- "organic hydroxy compound metabolic process phenotype",
- "organic polycyclic compound",
- "polyol",
- "hydroxy steroid",
- "increased level of chemical entity in bodily fluid",
- "increased blood role level",
- "primary amide",
- "vitamin D level phenotype",
- "increased level of chemical entity in blood",
- "lipid metabolic process",
- "vitamin D metabolic process",
- "increased level of lipid",
- "glucose",
- "seco-steroid",
- "vitamin D",
- "hydroxycalciol",
- "vitamin D metabolic process phenotype",
- "hydroxy seco-steroid",
- "cyclic compound",
- "increased level of nitrogen molecular entity in blood",
- "Abnormal metabolism",
- "increased level of vitamin D",
- "blood organic molecular entity level phenotype",
- "polycyclic compound",
- "increased level of chemical entity",
- "Aciduria",
- "increased level of parathyroid hormone in blood serum",
- "Abnormal urine pH",
- "role urine level phenotype",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "organ phenotype",
- "renal system",
- "renal system physiology phenotype",
- "renal system phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "excretory tube",
- "multicellular anatomical structure physiology phenotype",
- "blood plasma",
- "genitourinary system phenotype",
- "tube phenotype",
- "organic hydroxy compound metabolic process",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "mesoderm-derived structure phenotype",
- "Abnormality of vitamin metabolism",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "kidney phenotype",
- "kidney",
- "amino acid",
- "blood lipid level phenotype",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "primary metabolic process phenotype",
- "trunk phenotype",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "tissue",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "decreased functionality of the kidney epithelium",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "decreased level of phosphate in blood",
- "Abnormality of vitamin D metabolism",
- "metabolic process",
- "excretory tube physiology phenotype",
- "Abnormal circulating calcium-phosphate regulating hormone concentration",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "nephron phenotype",
- "organic hydroxy compound",
- "nitrogen molecular entity",
- "Abnormal urine amino acid level",
- "vitamin metabolic process phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "occurrent",
- "nephron tubule",
- "organism substance",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "phosphate",
- "blood parathyroid hormone level phenotype",
- "abdominal segment element phenotype",
- "molecular entity",
- "multicellular organism",
- "process",
- "epithelium",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "Recurrent fractures",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "increased level of protein",
- "Abnormality of the genitourinary system",
- "Generalized aminoaciduria",
- "compound organ physiology phenotype",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "organic oxo compound",
- "decreased level of chemical entity",
- "main group molecular entity",
- "abdomen element",
- "material entity",
- "subdivision of organism along main body axis",
- "homeostatic process",
- "Abnormal bone ossification",
- "primary metabolic process",
- "anatomical structure",
- "organ physiology phenotype",
- "elemental molecular entity",
- "carbon oxoacid",
- "Abnormality of blood and blood-forming tissues",
- "organism substance phenotype",
- "endocrine system phenotype",
- "information biomacromolecule",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organ part",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "multicellular organism chemical entity level phenotype",
- "increased level of calcitriol in blood",
- "cavitated compound organ physiology phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "growth",
- "lateral structure physiology phenotype",
- "decreased level of chemical entity in blood",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "haemolymphatic fluid phenotype",
- "peptide",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "lipid metabolic process phenotype",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "blood oxygen molecular entity level phenotype",
- "decreased functionality of the epithelial tube",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "increased level of protein in blood",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "vitamin metabolic process",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "specifically dependent continuant",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "biological_process",
- "anatomical system",
- "quality",
- "Osteomalacia",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "steroid metabolic process phenotype",
- "material anatomical entity",
- "bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "Elevated circulating parathyroid hormone level",
- "Abnormal circulating metabolite concentration",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "parathyroid hormone",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "triol",
- "trunk region element physiology phenotype",
- "lipid",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "musculoskeletal system physiology phenotype",
- "anatomical entity physiology phenotype",
- "Proximal tubulopathy",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "main body axis",
- "musculature",
- "steroid",
- "organonitrogen compound",
- "metal atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "calcitriol",
- "urine chemical entity level phenotype",
- "carbonyl compound",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "organic cyclic compound",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "role bodily fluid level phenotype",
- "decreased functionality of the nephron epithelium",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "hydrogen molecular entity",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "trunk region element",
- "increased level of carboxylic acid in urine",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "abdominal segment of trunk",
- "excreta",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "increased level of amino acid in urine",
- "musculature of body phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal musculoskeletal physiology",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "carbohydrate",
- "skeletal system",
- "bone element phenotype",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "increased bodily fluid base level",
- "skeletal system morphology phenotype",
- "Abnormal skeletal morphology",
- "blood phenotype",
- "multicellular organismal process",
- "oxoacid",
- "ossification",
- "Renal phosphate wasting",
- "urine",
- "Abnormal urine phosphate concentration",
- "continuant",
- "Osteopenia",
- "organic molecular entity",
- "organic amino compound",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "hydroxides",
- "anatomical system phenotype",
- "organooxygen compound",
- "carboxylic acid",
- "increased level of organic acid in urine",
- "Abnormal blood ion concentration",
- "nitrogen molecular entity level phenotype",
- "Elevated urinary carboxylic acid",
- "amino acid level phenotype",
- "heteroorganic entity",
- "organic acid",
- "High serum calcitriol",
- "urine amino acid level phenotype",
- "polyatomic entity",
- "oxygen molecular entity",
- "Abnormal urine metabolite level",
- ],
- },
- {
- "id": "MONDO:0014275",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 3",
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"],
- "synonym": [
- "EHHADH Fanconi syndrome",
- "FRTS3",
- "Fanconi renotubular syndrome 3",
- "Fanconi renotubular syndrome type 3",
- "Fanconi syndrome caused by mutation in EHHADH",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0003259",
- "HP:0001942",
- "HP:0001510",
- "HP:0003109",
- "HP:0002748",
- "HP:0002979",
- "HP:0003076",
- "HP:0000083",
- "HP:0004322",
- "HP:0003355",
- "HP:0003126",
- ],
- "has_phenotype_label": [
- "Elevated circulating creatinine concentration",
- "Metabolic acidosis",
- "Growth delay",
- "Hyperphosphaturia",
- "Rickets",
- "Bowing of the legs",
- "Glycosuria",
- "Renal insufficiency",
- "Short stature",
- "Aminoaciduria",
- "Low-molecular-weight proteinuria",
- ],
- "has_phenotype_count": 11,
- "has_phenotype_closure": [
- "CHEBI:33839",
- "HP:0020129",
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- "CHEBI:16541",
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- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
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- "UPHENO:0003516",
- "UPHENO:0003095",
- "UPHENO:0076727",
- "UBERON:0006058",
- "UPHENO:0051894",
- "UPHENO:0041573",
- "HP:0000093",
- "UPHENO:0075952",
- "CHEBI:33575",
- "UPHENO:0002861",
- "CHEBI:33917",
- "UBERON:0010709",
- "UPHENO:0086956",
- "UPHENO:0002593",
- "HP:0002814",
- "UPHENO:0002926",
- "UPHENO:0031302",
- "UPHENO:0041610",
- ],
- "has_phenotype_closure_label": [
- "macromolecule",
- "Proteinuria",
- "polypeptide",
- "protein polypeptide chain",
- "Aciduria",
- "Abnormal urine pH",
- "Organic aciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "decreased size of the multicellular organism",
- "trunk phenotype",
- "Abnormality of the kidney",
- "organ physiology phenotype",
- "trunk region element",
- "subdivision of trunk phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element phenotype",
- "main body axis",
- "subdivision of organism along main body axis",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "Abnormality of the upper urinary tract",
- "cavitated compound organ",
- "abdominal segment element",
- "abdomen",
- "cavitated compound organ physiology phenotype",
- "compound organ physiology phenotype",
- "glucose",
- "role urine level phenotype",
- "hexose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "material anatomical entity, curved phenotype",
- "anatomical collection phenotype",
- "lateral structure phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "shape long bone",
- "limb skeleton subdivision phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "skeleton phenotype",
- "bone of appendage girdle complex phenotype",
- "lateral structure",
- "multi-limb segment region phenotype",
- "Abnormal limb bone morphology",
- "pelvic appendage phenotype",
- "posterior region of body",
- "organism subdivision phenotype",
- "long bone phenotype",
- "limb morphology phenotype",
- "shape anatomical entity",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "growth phenotype",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "Growth delay",
- "renal system phenotype",
- "renal system physiology phenotype",
- "creatinine",
- "urine chemical entity level phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "increased level of chemical entity in blood serum",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "increased level of creatinine in blood serum",
- "Abnormal circulating organic compound concentration",
- "role blood serum level phenotype",
- "Abnormality of blood and blood-forming tissues",
- "abdominal segment of trunk",
- "excreta",
- "anatomical entity mass density phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "imidazolidinone",
- "imidazolidines",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "increased urine role level",
- "Abnormal urinary electrolyte concentration",
- "independent continuant",
- "increased level of creatinine in blood",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "phenotypic effect",
- "system",
- "Abnormality of the genitourinary system",
- "quality",
- "heteromonocyclic compound",
- "Abnormal circulating nitrogen compound concentration",
- "phosphorus oxoacid derivative",
- "amide",
- "increased level of chemical entity in blood",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "blood chemical entity level phenotype",
- "bodily fluid",
- "All",
- "heteroatomic molecular entity",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "Renal insufficiency",
- "organ, curved phenotype",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "musculature",
- "limb endochondral element phenotype",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "blood creatinine level phenotype",
- "role bodily fluid level phenotype",
- "heteroorganic entity",
- "increased level of nitrogen molecular entity in blood",
- "subdivision of organism along appendicular axis",
- "lower limb segment, curved phenotype",
- "lateral structure physiology phenotype",
- "growth",
- "Abnormal circulating metabolite concentration",
- "limb",
- "genitourinary system",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "chemical entity",
- "subdivision of trunk",
- "organochalcogen compound",
- "increased blood role level",
- "multicellular organism",
- "nitrogen molecular entity",
- "endochondral element phenotype",
- "process",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "organic molecule",
- "increased blood serum role level",
- "Abnormality of limbs",
- "increased bodily fluid role level",
- "carbohydrates and carbohydrate derivatives",
- "limb bone",
- "organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "anatomical structure, curved phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "blood plasma chemical entity level phenotype",
- "compound organ",
- "carboxamide",
- "multi-limb segment region",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "haemolymphatic fluid phenotype",
- "size of multicellular organism phenotype",
- "limb bone morphology phenotype",
- "increased level of chemical entity in blood plasma",
- "organ system subdivision",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "paired limb/fin skeleton phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin segment",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "heterocyclic compound",
- "anatomical system",
- "zone of organ",
- "organic molecular entity",
- "body proper",
- "entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormality of the calf",
- "organism substance",
- "blood plasma",
- "genitourinary system phenotype",
- "Abnormality of bone mineral density",
- "lower limb segment",
- "peptide",
- "Acidosis",
- "hindlimb zeugopod phenotype",
- "phenotype",
- "leg",
- "cyclic amide",
- "Elevated circulating creatinine concentration",
- "subdivision of organism along appendicular axis, curved phenotype",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "monocyclic compound",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "blood organic molecular entity level phenotype",
- "lactam",
- "metabolic process",
- "hindlimb",
- "hemolymphoid system",
- "role blood level phenotype",
- "cyclic compound",
- "delayed biological_process",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system",
- "limb segment",
- "taxon specific phenotype",
- "Low-molecular-weight proteinuria",
- "organonitrogen heterocyclic compound",
- "primary amide",
- "blood oxygen molecular entity level phenotype",
- "Metabolic acidosis",
- "occurrent",
- "limb segment, curved phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Abnormality of urine homeostasis",
- "oxoacid derivative",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "homeostatic process phenotype",
- "organism subdivision",
- "kidney phenotype",
- "leg phenotype",
- "increased level of chemical entity",
- "biological_process",
- "trunk",
- "molecule",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "multicellular organism chemical entity level phenotype",
- "pelvic complex",
- "excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "decreased size of the multicellular anatomical structure",
- "hindlimb zeugopod",
- "anatomical entity phenotype",
- "phosphate",
- "urine",
- "renal system",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "appendage phenotype",
- "Abnormal urine phosphate concentration",
- "phosphoric acid derivative",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "anatomical entity physiology phenotype",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "appendage",
- "Abnormal circulating creatinine concentration",
- "urine phosphate level phenotype",
- "Abnormality of the urinary system physiology",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "multicellular anatomical structure",
- "Azotemia",
- "blood",
- "Hyperphosphaturia",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure physiology phenotype",
- "limb endochondral element",
- "Abnormality of the skeletal system",
- "diazolidine",
- "blood serum chemical entity level phenotype",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "organic heterocyclic compound",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "organ",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "organic heteromonocyclic compound",
- "musculature of body",
- "blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "skeletal system phenotype",
- "bone element mass density phenotype",
- "skeleton",
- "organ phenotype",
- "ossification",
- "zeugopod phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organic cyclic compound",
- "organism subdivision, curved phenotype",
- "endochondral bone phenotype",
- "organ part",
- "chalcogen molecular entity",
- "zone of bone organ",
- "bodily fluid phenotype",
- "pelvic appendage",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "skeletal element, curved phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "anatomical collection",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "blood serum",
- "endochondral element",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "paired limb/fin phenotype",
- "curved hindlimb zeugopod",
- "long bone",
- "limb segment phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
- ],
- },
- {
- "id": "MONDO:0024525",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
- "synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001942",
- "HP:0002148",
- "HP:0000124",
- "HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
- "HP:0002748",
- "HP:0034359",
- "HP:0003076",
- "HP:0003155",
- "HP:0000083",
- "HP:0003355",
- "HP:0004322",
- "HP:0003126",
- "HP:0001324",
- ],
- "has_phenotype_label": [
- "Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
- "Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
- "Impaired renal tubular reabsorption of phosphate",
- "Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
- "Renal insufficiency",
- "Aminoaciduria",
- "Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness",
- ],
- "has_phenotype_count": 16,
- "has_phenotype_closure": [
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- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
- "CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "UPHENO:0002964",
- ],
- "has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
- "skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
- "ossification",
- "carbohydrate",
- "skeletal system",
- ],
- },
- {
- "id": "MONDO:0100238",
- "category": "biolink:Disease",
- "name": "inherited Fanconi renotubular syndrome",
- "description": "An instance of Fanconi renotubular syndrome that is inherited.",
- "provided_by": "phenio_nodes",
- "xref": ["OMIMPS:134600"],
- "synonym": ["hereditary Fanconi renotubular syndrome"],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0030056",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 5",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"],
- "synonym": [
- "FANCONI RENOTUBULAR SYNDROME 5",
- "FRTS5",
- "Fanconi Renotubular Syndrome, Acadian Variant",
- "Fanconi renotubular syndrome 5",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0002148",
- "HP:0002206",
- "HP:0004912",
- "HP:0002857",
- "HP:0004918",
- "HP:0045051",
- "HP:0000093",
- "HP:0003076",
- "HP:0002097",
- "HP:0030078",
- "HP:0003355",
- "HP:0005576",
- "HP:0003774",
- "HP:0000822",
- ],
- "has_phenotype_label": [
- "Hypophosphatemia",
- "Pulmonary fibrosis",
- "Hypophosphatemic rickets",
- "Genu valgum",
- "Hyperchloremic metabolic acidosis",
- "Decreased DLCO",
- "Proteinuria",
- "Glycosuria",
- "Emphysema",
- "Lung adenocarcinoma",
- "Aminoaciduria",
- "Tubulointerstitial fibrosis",
- "Stage 5 chronic kidney disease",
- "Hypertension",
- ],
- "has_phenotype_count": 14,
- "has_phenotype_closure": [
- "UBERON:0000055",
- "UPHENO:0004507",
- "UBERON:0034923",
- "HP:0011025",
- "UBERON:0004537",
- "HP:0001626",
- "HP:0032263",
- "UPHENO:0002422",
- "UPHENO:0002386",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
- "HP:0000083",
- "HP:0012622",
- "UPHENO:0002246",
- "UPHENO:0005285",
- "UPHENO:0076779",
- "UPHENO:0005141",
- "UBERON:0009773",
- "UBERON:0007684",
- "UPHENO:0002564",
- "UPHENO:0087427",
- "UPHENO:0003093",
- "HP:0032581",
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- "UPHENO:0076756",
- "HP:0012575",
- "UPHENO:0002803",
- "UPHENO:0003381",
- "HP:0005576",
- "UBERON:0004819",
- "UPHENO:0003094",
- "UPHENO:0002909",
- "UBERON:0000483",
- "UPHENO:0003941",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "UBERON:0001009",
- "CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "UPHENO:0046286",
- "HP:0002664",
- "UPHENO:3000003",
- "HP:0100606",
- "HP:0030358",
- "HP:0100526",
- "MPATH:14",
- "MPATH:25",
- "CHEBI:15693",
- "CHEBI:35381",
- "HP:0030972",
- "CHEBI:16646",
- "HP:0002597",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "CHEBI:33839",
- "UBERON:0001088",
- "UBERON:0007798",
- "HP:0000079",
- "HP:0033354",
- "UPHENO:0002642",
- "HP:0003110",
- "CHEBI:36963",
- "UBERON:0000489",
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- "HP:0011277",
- "HP:0020129",
- "UBERON:0001231",
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- "UPHENO:0046383",
- "CHEBI:33304",
- "CHEBI:33582",
- "CHEBI:36962",
- "CHEBI:25806",
- "CHEBI:51143",
- "UPHENO:0004791",
- "CHEBI:16541",
- "UPHENO:0002442",
- "UBERON:0004122",
- "CHEBI:37622",
- "CHEBI:50047",
- "MPATH:597",
- "HP:0030878",
- "UBERON:0002049",
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- "HP:0001995",
- "HP:0001942",
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- "UBERON:0010912",
- "UBERON:0010707",
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- ],
- "has_phenotype_closure_label": [
- "Abnormality of the cardiovascular system",
- "vessel",
- "vascular system",
- "Increased blood pressure",
- "disconnected anatomical group",
- "organ physiology phenotype",
- "Stage 5 chronic kidney disease",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Chronic kidney disease",
- "cavitated compound organ physiology phenotype",
- "Tubulointerstitial fibrosis",
- "renal system morphology phenotype",
- "epithelial tube phenotype",
- "Abnormal renal insterstitial morphology",
- "Abnormal tubulointerstitial morphology",
- "renal tubule",
- "kidney morphology phenotype",
- "nephron morphology phenotype",
- "epithelium",
- "Renal fibrosis",
- "abdomen element phenotype",
- "cavitated compound organ phenotype",
- "Abnormal renal morphology",
- "Abnormal nephron morphology",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "Abnormal cardiovascular system physiology",
- "excretory tube",
- "cavitated compound organ",
- "abdominal segment element",
- "uriniferous tubule",
- "abdomen",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "tissue",
- "Aciduria",
- "Abnormal urine pH",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "organic molecule",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Non-small cell lung carcinoma",
- "Neoplasm",
- "process of degenerative change",
- "cell and tissue damage process",
- "tissue specific degenerative process",
- "pathological phenotype observation",
- "glucose",
- "hexose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "abdominal segment of trunk",
- "excreta",
- "role urine level phenotype",
- "genitourinary system",
- "blood vessel",
- "macromolecule",
- "Abnormality of the urinary system physiology",
- "heteroorganic entity",
- "organonitrogen compound",
- "renal system",
- "urine",
- "circulatory system phenotype",
- "renal system physiology phenotype",
- "renal system phenotype",
- "primary amide",
- "polypeptide",
- "genitourinary system phenotype",
- "Abnormality of urine homeostasis",
- "increased urine role level",
- "organic molecular entity",
- "anatomical cluster phenotype",
- "nitrogen molecular entity",
- "protein polypeptide chain",
- "Abnormal DLCO",
- "Decreased DLCO",
- "tissue phenotype",
- "Abnormality on pulmonary function testing",
- "Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Hyperchloremic metabolic acidosis",
- "Abnormality of the genitourinary system",
- "system",
- "material anatomical entity, curved phenotype",
- "skeletal joint morphology phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "articular system",
- "appendicular skeleton phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "bone of appendage girdle complex phenotype",
- "cardiovascular system",
- "limb bone morphology phenotype",
- "multi organ part structure phenotype",
- "skeletal joint phenotype",
- "Abnormal limb bone morphology",
- "nephron epithelium phenotype",
- "pelvic appendage phenotype",
- "appendage",
- "Abnormal renal tubule morphology",
- "posterior region of body",
- "long bone phenotype",
- "renal tubule phenotype",
- "organ",
- "knee",
- "increased level of chemical entity",
- "respiratory system morphology phenotype",
- "ion",
- "organochalcogen compound",
- "subdivision of trunk",
- "Abnormal systemic blood pressure",
- "main body axis",
- "musculature",
- "organism subdivision phenotype",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "anatomical entity physiology phenotype",
- "tube",
- "proximo-distal subdivision of respiratory tract",
- "thoracic cavity element",
- "Abnormal pulmonary interstitial morphology",
- "limb endochondral element phenotype",
- "limb skeleton subdivision phenotype",
- "lower respiratory tract",
- "pnictogen molecular entity",
- "Abnormality of lower limb joint",
- "anatomical entity morphology in the respiratory system phenotype",
- "subdivision of organism along main body axis",
- "main group molecular entity",
- "abdomen element",
- "material entity",
- "Abnormality of the kidney",
- "hindlimb joint phenotype",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "skeleton",
- "organ phenotype",
- "abdominal segment element phenotype",
- "lung phenotype",
- "pair of lungs",
- "anatomical collection",
- "viscus phenotype",
- "thoracic cavity element phenotype",
- "haemolymphatic fluid phenotype",
- "respiration organ",
- "phosphoric acid derivative",
- "subdivision of tube",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "anatomical conduit",
- "oxoacid derivative",
- "kidney phenotype",
- "leg phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "multi-limb segment region phenotype",
- "decreased level of phosphate in blood",
- "metabolic process",
- "hindlimb",
- "skeletal system phenotype",
- "monoatomic entity",
- "blood chemical entity level phenotype",
- "anatomical collection phenotype",
- "occurrent",
- "limb segment, curved phenotype",
- "nephron tubule",
- "organism substance",
- "appendage phenotype",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "limb morphology phenotype",
- "lung morphology phenotype",
- "phosphate",
- "molecular entity",
- "lateral structure",
- "bone element mass density phenotype",
- "multicellular organism",
- "process",
- "subdivision of organism along main body axis phenotype",
- "vasculature",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "Hypophosphatemia",
- "organooxygen compound",
- "subdivision of organism along appendicular axis, curved phenotype",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "cardiovascular system phenotype",
- "respiratory system phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "respiration organ phenotype",
- "decreased level of chemical entity",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "nephron epithelium",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "organism subdivision",
- "homeostatic process phenotype",
- "limb endochondral element",
- "elemental molecular entity",
- "Abnormality of blood and blood-forming tissues",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "lower limb segment",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "endochondral bone phenotype",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "skeleton phenotype",
- "lung fibrosis",
- "continuant",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "Emphysema",
- "thoracic segment organ",
- "viscus",
- "organ system subdivision",
- "shape long bone",
- "decreased level of chemical entity in blood",
- "phosphate level phenotype",
- "monoatomic ion",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "cardiovascular system physiology phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "anatomical cluster",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "haemolymphatic fluid",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "thoracic segment of trunk",
- "shape anatomical entity",
- "Neoplasm of the lung",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "anatomical system",
- "zone of organ",
- "quality",
- "leg",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "carbohydrates and carbohydrate derivatives",
- "subdivision of tube phenotype",
- "limb bone",
- "organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "epithelium phenotype",
- "anatomical structure, curved phenotype",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Lung adenocarcinoma",
- "pelvic appendage",
- "bodily fluid phenotype",
- "Abnormality of limbs",
- "hemolymphoid system",
- "Renal insufficiency",
- "organ, curved phenotype",
- "Abnormal circulating metabolite concentration",
- "limb",
- "independent continuant",
- "entity",
- "body proper",
- "excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "hindlimb zeugopod",
- "Abnormality of the vasculature",
- "multicellular anatomical structure",
- "blood",
- "pelvic complex",
- "endoderm-derived structure",
- "anatomical entity phenotype",
- "Neoplasm of the respiratory system",
- "urine chemical entity level phenotype",
- "Abnormal respiratory system physiology",
- "multicellular organism chemical entity level phenotype",
- "trunk region element",
- "carboxamide",
- "compound organ",
- "respiratory system physiology phenotype",
- "respiratory system",
- "respiratory airway",
- "Abnormality of the respiratory system",
- "biological_process",
- "thoracic segment organ phenotype",
- "lateral structure phenotype",
- "paired limb/fin segment",
- "anatomical conduit phenotype",
- "articulation",
- "Pulmonary fibrosis",
- "subdivision of trunk phenotype",
- "hindlimb joint",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "Abnormality of the skeletal system",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "Decreased anatomical entity mass density",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormal bone structure",
- "skeletal system morphology phenotype",
- "excretory tube phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormality of the knee",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "Hypertension",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "lateral structure physiology phenotype",
- "Hypophosphatemic rickets",
- "anatomical entity mass density phenotype",
- "musculoskeletal system",
- "limb segment",
- "Abnormal respiratory system morphology",
- "ossification",
- "zeugopod phenotype",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "nephron",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organ part phenotype",
- "organism subdivision, curved phenotype",
- "multi organ part structure",
- "chalcogen molecular entity",
- "zone of bone organ",
- "compound organ physiology phenotype",
- "nephron tubule morphology phenotype",
- "articulation phenotype",
- "skeletal joint",
- "subdivision of organism along appendicular axis",
- "nephron tubule phenotype",
- "lower limb segment, curved phenotype",
- "organic oxo compound",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "long bone",
- "limb segment phenotype",
- "limb joint",
- "pathological process",
- "skeletal element, curved phenotype",
- "knee morphology phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "vasculature phenotype",
- "urine amino acid level phenotype",
- "Abnormal knee morphology",
- "blood vasculature",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "peptide",
- "Acidosis",
- "phenotype",
- "hindlimb zeugopod phenotype",
- "Genu valgum",
- "multi-limb segment region",
- "kidney epithelium morphology phenotype",
- "endochondral element",
- "paired limb/fin phenotype",
- "circulatory system",
- "Abnormal lung morphology",
- "curved hindlimb zeugopod",
- "Abnormal joint morphology",
- "kidney epithelium",
- "emphysema",
- "Abnormality of the calf",
- "knee phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "endochondral element phenotype",
- "long bone morphology phenotype",
- "endoderm-derived structure phenotype",
- "paired limb/fin skeleton",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
- ],
- },
- {
- "id": "HP:0001994",
- "category": "biolink:PhenotypicFeature",
- "name": "Renal Fanconi syndrome",
- "provided_by": "phenio_nodes",
- "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"],
- "namespace": "HP",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0012186",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group I",
- "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
- "provided_by": "phenio_nodes",
- "xref": [
- "DOID:0111091",
- "GARD:15448",
- "MEDGEN:323016",
- "MESH:C563802",
- "NCIT:C129026",
- "OMIM:609053",
- "UMLS:C1836861",
- ],
- "synonym": [
- "FANCI",
- "Fanconi Anemia, complementation Group 1",
- "Fanconi Anemia, complementation group type 1",
- "Fanconi anaemia complementation group type I",
- "Fanconi anemia complementation group I",
- "Fanconi anemia complementation group type I",
- "Fanconi anemia, complementation group I",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001655",
- "HP:0001875",
- "HP:0000325",
- "HP:0000545",
- "HP:0002984",
- "HP:0002247",
- "HP:0003974",
- "HP:0001873",
- "HP:0009778",
- "HP:0001631",
- "HP:0000543",
- "HP:0001511",
- "HP:0000405",
- "HP:0009777",
- "HP:0000568",
- "HP:0000821",
- "HP:0002308",
- "HP:0002949",
- "HP:0000609",
- "HP:0034323",
- "HP:0000470",
- "HP:0001263",
- "HP:0003221",
- "HP:0030048",
- "HP:0000076",
- "HP:0000252",
- "HP:0000413",
- "HP:0001643",
- "HP:0005528",
- "HP:0030680",
- "HP:0000957",
- "HP:0001903",
- "HP:0001629",
- "HP:0010034",
- "HP:0012210",
- "HP:0012506",
- "HP:0000085",
- "HP:0001274",
- "HP:0004322",
- "HP:0000089",
- "HP:0000365",
- "HP:0000483",
- "HP:0004325",
- "HP:0001331",
- "HP:0005528",
- ],
- "has_phenotype_label": [
- "Patent foramen ovale",
- "Neutropenia",
- "Triangular face",
- "Myopia",
- "Hypoplasia of the radius",
- "Duodenal atresia",
- "Absent radius",
- "Thrombocytopenia",
- "Short thumb",
- "Atrial septal defect",
- "Optic disc pallor",
- "Intrauterine growth retardation",
- "Conductive hearing impairment",
- "Absent thumb",
- "Microphthalmia",
- "Hypothyroidism",
- "Chiari malformation",
- "Fused cervical vertebrae",
- "Optic nerve hypoplasia",
- "Reduced circulating growth hormone concentration",
- "Short neck",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
- "Colpocephaly",
- "Vesicoureteral reflux",
- "Microcephaly",
- "Atresia of the external auditory canal",
- "Patent ductus arteriosus",
- "Bone marrow hypocellularity",
- "Abnormal cardiovascular system morphology",
- "Cafe-au-lait spot",
- "Anemia",
- "Ventricular septal defect",
- "Short 1st metacarpal",
- "Abnormal renal morphology",
- "Small pituitary gland",
- "Horseshoe kidney",
- "Agenesis of corpus callosum",
- "Short stature",
- "Renal hypoplasia",
- "Hearing impairment",
- "Astigmatism",
- "Decreased body weight",
- "Absent septum pellucidum",
- "Bone marrow hypocellularity",
- ],
- "has_phenotype_count": 44,
- "has_phenotype_closure": [
- "UPHENO:0002563",
- "UPHENO:0002872",
- "UPHENO:0002921",
- "UPHENO:0008831",
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- "UPHENO:0011938",
- "UPHENO:0026263",
- "UPHENO:0002565",
- "UPHENO:0009312",
- "UPHENO:0011517",
- "UPHENO:0026588",
- "UBERON:0000119",
- "UBERON:0003528",
- "UPHENO:0025954",
- "UPHENO:0026796",
- "UBERON:0000957",
- "UBERON:0002020",
- "UPHENO:0010799",
- "HP:0004325",
- "UPHENO:0054304",
- "UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UBERON:0010313",
- "UPHENO:0031228",
- "UPHENO:0031123",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0041098",
- "UPHENO:0004764",
- "UPHENO:0031144",
- "HP:0000481",
- "UPHENO:0031206",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UBERON:0001801",
- "UBERON:0000964",
- "UPHENO:0087597",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0087232",
- "UPHENO:0031129",
- "UPHENO:0041037",
- "UPHENO:0041053",
- "HP:0000089",
- "HP:0008678",
- "UPHENO:0080352",
- "UPHENO:0069254",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "UBERON:0001869",
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- "UBERON:0001015",
- "UBERON:0019207",
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- "UPHENO:0069335",
- "HP:0012130",
- "HP:0000924",
- "UBERON:0000062",
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- "UPHENO:0003415",
- "UBERON:0000063",
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- "UPHENO:0011520",
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+ "Abnormal involuntary eye movements",
+ "Abnormal tracheal morphology",
+ "cerebrospinal fluid",
+ "main body axis",
+ "tissue development",
+ "venous blood vessel",
+ "camera-type eye phenotype",
+ "physiologic nystagmus phenotype",
+ "increased size of the immaterial anatomical entity",
+ "manus",
+ "chemosensory system",
+ "organ physiology phenotype",
+ "Microphthalmia",
+ "absent anatomical entity in the multicellular organism",
+ "renal system phenotype",
+ "bone marrow cell",
+ "multicellular organism phenotype",
+ "upper limb segment",
+ "biological_process",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "camera-type eye physiology phenotype",
+ "blood vessel morphology phenotype",
+ "zone of skin morphology phenotype",
+ "ganglion",
+ "subdivision of head phenotype",
+ "Abnormality of the curvature of the cornea",
+ "cell",
+ "Abnormality of the mouth",
+ "Finger syndactyly",
+ "lower respiratory tract",
+ "visual system",
+ "uvea morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal system physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "Hypermelanotic macule",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "zone of organ phenotype",
+ "trachea",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Abnormal respiratory system morphology",
+ "Multiple cafe-au-lait spots",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal lens morphology",
+ "simple eye physiology phenotype",
+ "Anal atresia",
+ "anatomical conduit",
+ "Abnormality of the head",
+ "Abnormal enteric nervous system morphology",
+ "future central nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "fused pedal digit and pedal digit",
+ "ocular surface region morphology phenotype",
+ "decreased length of anatomical structure",
+ "cornea",
+ "abdominal wall",
+ "3-D shape anatomical entity",
+ "external male genitalia",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "orifice",
+ "shape cornea",
+ "multicellular organism development phenotype",
+ "Abnormal eye physiology",
+ "asymmetrically curved anatomical entity",
+ "Dolichocephaly",
+ "common carotid artery plus branches",
+ "drooping eyelid",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "decreased length of bone of pectoral complex",
+ "ventricle of nervous system phenotype",
+ "increased number of anatomical structure",
+ "delayed biological_process",
+ "systemic artery",
+ "organism substance",
+ "Abnormality of body height",
+ "decreased size of the mesoderm-derived structure",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "non-material anatomical boundary",
+ "Abnormality of head or neck",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "lower urinary tract phenotype",
+ "non-connected functional system",
+ "increased number of anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Clinodactyly of the 5th finger",
+ "sense organ",
+ "orbital region",
+ "hypertrophic heart right ventricle",
+ "vasculature phenotype",
+ "Abnormality of the endocrine system",
+ "forelimb",
+ "skeleton of pelvic complex",
+ "anterior segment of eyeball morphology phenotype",
+ "face phenotype",
+ "Abnormal frontal bone morphology",
+ "Abnormality of lower limb joint",
+ "curvature anatomical entity",
+ "increased number of material anatomical entity",
+ "skeletal system",
+ "hindlimb skeleton",
+ "protein-containing material entity",
+ "anatomical entity phenotype",
+ "gamete generation",
+ "organ part phenotype",
+ "male organism",
+ "fused pedal digit and anatomical entity",
+ "Irregular hyperpigmentation",
+ "lateral structure phenotype",
+ "pelvic girdle region",
+ "paired limb/fin segment",
+ "multicellular organism development",
+ "Ventriculomegaly",
+ "urethra",
+ "thoracic segment organ",
+ "Astigmatism",
+ "Abnormal carotid artery morphology",
+ "anterior region of body",
+ "Abnormal reproductive system morphology",
+ "lateral structure physiology phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "upper leg bone",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "asymmetrically curved cornea",
+ "decreased qualitatively reproductive process",
+ "dermal skeletal element phenotype",
+ "neural crest-derived structure",
+ "incomplete closing of the interatrial septum",
+ "epithelial tube formation",
+ "digestive system element phenotype",
+ "brain ventricle morphology phenotype",
+ "Abnormal umbilicus morphology",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormal joint morphology",
+ "transudate",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "multi cell part structure",
+ "vein",
+ "limb long bone morphology phenotype",
+ "bodily fluid",
+ "multi-tissue structure",
+ "facial skeleton morphology phenotype",
+ "limb long bone phenotype",
+ "All",
+ "Abnormal bone structure",
+ "naris phenotype",
+ "lens of camera-type eye morphology phenotype",
+ "nervous system phenotype",
+ "postcranial axial skeletal system",
+ "Clubbing of toes",
+ "arterial system",
+ "bone of pelvic complex morphology phenotype",
+ "kidney morphology phenotype",
+ "dorsum",
+ "nervous system development",
+ "tube formation phenotype",
+ "peripheral nervous system phenotype",
+ "tissue",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
+ "brain ventricle",
+ "future nervous system",
+ "regional part of nervous system phenotype",
+ "Reduced bone mineral density",
+ "circulatory system",
+ "Spina bifida",
+ "embryo development ending in birth or egg hatching",
+ "epithelial tube morphogenesis",
+ "morphogenesis of an epithelium",
+ "appendicular skeleton",
+ "spinal cord",
+ "Abnormal facial skeleton morphology",
+ "multi organ part structure",
+ "increased length of the anatomical line between pupils",
+ "manual digit 1 phalanx",
+ "orifice phenotype",
+ "neocortex morphology phenotype",
+ "gamete",
+ "upper jaw region",
+ "palpebral fissure phenotype",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
+ "Abnormal bone ossification",
+ "Abnormal testis morphology",
+ "deviation of anatomical entity towards the middle",
+ "Abnormal eyelid morphology",
+ "palpebral fissure",
+ "female reproductive organ",
+ "ocular adnexa",
+ "opaque lens of camera-type eye",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "lens of camera-type eye phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "transparent eye structure phenotype",
+ "Cataract",
+ "heart right ventricle",
+ "increased size of the anatomical entity",
+ "lens of camera-type eye",
+ "Atrial septal defect",
+ "drooping anatomical entity",
+ "eyelid phenotype",
+ "large intestine",
+ "Ptosis",
+ "Abnormal cornea morphology",
+ "gland",
+ "clavate digit",
+ "decreased size of the anatomical structure",
+ "shape eyelid",
+ "decreased qualitatively sensory perception",
+ "incomplete closing of the multicellular anatomical structure",
+ "Hydrocephalus",
+ "telencephalon morphology phenotype",
+ "hindlimb morphology phenotype",
+ "anatomical projection",
+ "number of hematopoietic cell phenotype",
+ "Eumetazoa",
+ "phalanx morphology phenotype",
+ "Eukaryota",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "forebrain morphology phenotype",
+ "root",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormality of the male genitalia",
+ "increased size of the organ part",
+ "cellular organisms",
+ "size of skull phenotype",
+ "increased length of the multicellular anatomical structure",
+ "Bicornuate uterus",
+ "regional part of brain phenotype",
+ "limb long bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "size of anatomical entity phenotype",
+ "female reproductive system morphology phenotype",
+ "telencephalon",
+ "cranial skeletal system",
+ "nose",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "tube closure",
+ "ocular adnexa phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autonomic nervous system phenotype",
+ "Abnormality of the abdominal organs",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "Deviation of the 5th finger",
+ "regional part of brain",
+ "regional part of nervous system",
+ "interventricular septum",
+ "increased length of the anatomical line",
+ "ganglion of peripheral nervous system morphology phenotype",
+ "Abnormal midface morphology",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
+ "oral cavity",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "testis",
+ "left cardiac chamber",
+ "Aplasia/Hypoplasia of the testes",
+ "Abnormality of the testis size",
+ "gonad",
+ "palatine uvula morphology phenotype",
+ "Decreased anatomical entity mass density",
+ "embryo",
+ "Absent testis",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "decreased length of forelimb bone",
+ "long bone phenotype",
+ "Abnormality of the outer ear",
+ "number of myeloid cell phenotype",
+ "absent germ cell",
+ "ear morphology phenotype",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "vestibulo-auditory system",
+ "anterior uvea",
+ "Abnormality of blood and blood-forming tissues",
+ "external ear phenotype",
+ "Abnormal cerebral cortex morphology",
+ "forebrain",
+ "increased qualitatively biological_process",
+ "increased size of the non-material anatomical boundary",
+ "incomplete closing of the organ",
+ "Abnormal pinna morphology",
+ "Abnormal ear morphology",
+ "ear",
+ "artery morphology phenotype",
+ "developmental process involved in reproduction phenotype",
+ "male reproductive organ physiology phenotype",
+ "internal male genitalia",
+ "anatomical entity morphology in the brain phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "multi organ part structure phenotype",
+ "increased size of the ventricle of nervous system",
+ "epicanthal fold",
+ "hindlimb long bone",
+ "decreased length of multicellular anatomical structure",
+ "abdomen element phenotype",
+ "increased size of the organ component layer",
+ "Abnormal nasal morphology",
+ "internal male genitalia physiology phenotype",
+ "duodenum morphology phenotype",
+ "Abnormality of the nervous system",
+ "pedal digit digitopodial skeleton",
+ "paralysed cranial nerve",
+ "increased size of the ectoderm-derived structure",
+ "abdomen element physiology phenotype",
+ "increased length of the zone of organ",
+ "absent anatomical structure",
+ "trunk",
+ "manual digit 5 plus metapodial segment",
+ "female reproductive system phenotype",
+ "zone of organ",
+ "skull phenotype",
+ "increased size of the brain ventricle",
+ "increased size of the multicellular anatomical structure",
+ "visual perception phenotype",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "digestive system morphology phenotype",
+ "exocrine gland phenotype",
+ "Decreased fertility",
+ "Abnormality of the genitourinary system",
+ "exocrine system",
+ "decreased length of forelimb endochondral element",
+ "intromittent organ",
+ "respiratory system morphology phenotype",
+ "gland phenotype",
+ "Abnormality of the liver",
+ "fused anatomical entity and manual digit",
+ "incomplete closing of the roof of mouth",
+ "liver",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Visual impairment",
+ "ulna",
+ "deviation of manual digit towards the middle",
+ "abdomen",
+ "trunk region element phenotype",
+ "Conotruncal defect",
+ "digestive system gland",
+ "musculoskeletal system",
+ "abdominal segment element",
+ "gonad phenotype",
+ "internal ear phenotype",
+ "liver phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "gamete generation phenotype",
+ "subdivision of skeletal system",
+ "hepatobiliary system",
+ "male germ cell",
+ "Aplasia/Hypoplasia of the uvula",
+ "behavior process",
+ "cardiovascular system morphology phenotype",
+ "anterior chamber of eyeball",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "increased size of the right cardiac chamber",
+ "hypothalamus-pituitary axis phenotype",
+ "posterior nasal aperture phenotype",
+ "hypothalamus-pituitary axis",
+ "Abnormal reflex",
+ "hindlimb joint",
+ "anatomical line phenotype",
+ "penis",
+ "increased size of the anatomical line",
+ "tube phenotype",
+ "Hypertelorism",
+ "increased length of the anatomical entity",
+ "anatomical line",
+ "immaterial anatomical entity phenotype",
+ "non-material anatomical boundary phenotype",
+ "increased length of the immaterial anatomical entity",
+ "Decreased multicellular organism mass",
+ "Aplasia/Hypoplasia of the ulna",
+ "intestine",
+ "ectoderm-derived structure phenotype",
+ "immaterial anatomical entity",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "location of eyeball of camera-type eye phenotype",
+ "decreased size of the sense organ",
+ "vessel",
+ "spermatogenesis phenotype",
+ "anatomical entity atresia",
+ "Abnormal spermatogenesis",
+ "absent material anatomical entity in the multicellular organism",
+ "morphogenesis of embryonic epithelium",
+ "haploid cell",
+ "germ line cell",
+ "Cafe-au-lait spot",
+ "gamete phenotype",
+ "absent material anatomical entity",
+ "spermatogenesis",
+ "internal naris",
+ "sperm",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "decreased qualitatively developmental process",
+ "reproductive process phenotype",
+ "male gamete",
+ "prepuce of penis morphology phenotype",
+ "absent gamete",
+ "decreased sensory perception of mechanical stimulus",
+ "iris",
+ "integumental system",
+ "semen",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "decreased gamete generation",
+ "absent anatomical entity in the semen",
+ "subdivision of skeleton phenotype",
+ "male reproductive system physiology phenotype",
+ "conceptus",
+ "decreased multicellular organismal reproductive process",
+ "Abnormal cellular phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "absent anatomical entity",
+ "internal genitalia",
+ "skeleton of pes",
+ "pes morphology phenotype",
+ "organ part morphology in the heart phenotype",
+ "reproduction",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
+ "epithelium",
+ "autopodial skeleton",
+ "outflow tract of ventricle",
+ "increased size of the brain ventricle/choroid plexus",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "Abnormality of the palpebral fissures",
+ "obsolete multicellular organism reproduction",
+ "decreased developmental process",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "multicellular organismal reproductive process phenotype",
+ "Abnormality of the nose",
+ "developmental process involved in reproduction",
+ "sexual reproduction",
+ "male gamete generation",
+ "fused anatomical entity and digit",
+ "hematopoietic system phenotype",
+ "small intestine morphology phenotype",
+ "small intestine",
+ "cavitated compound organ",
+ "Abnormal duodenum morphology",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "Abnormal foot morphology",
+ "Duodenal stenosis",
+ "testis phenotype",
+ "Abnormality of movement",
+ "intestine morphology phenotype",
+ "subdivision of tube phenotype",
+ "increased length of the skin of head",
+ "Azoospermia",
+ "Abnormal small intestine morphology",
+ "clavate anatomical entity",
+ "Hydroureter",
+ "membrane bone phenotype",
+ "Abnormal uterus morphology",
+ "myocardium phenotype",
+ "Abnormal oral morphology",
+ "Choanal atresia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "continuant",
+ "hindlimb",
+ "Functional abnormality of the inner ear",
+ "pedal digit",
+ "leg",
+ "neoplasm phenotype",
+ "phalanx of pes",
+ "cardiac valve morphology phenotype",
+ "orifice atresia",
+ "digitopodium bone",
+ "phalanx",
+ "Abnormality of the lower limb",
+ "jaw skeleton",
+ "exocrine gland",
+ "hindlimb bone",
+ "phalanx endochondral element",
+ "skeleton of pedal digitopodium",
+ "skeleton of pedal acropodium",
+ "vertebral centrum element",
+ "pelvic appendage skeleton",
+ "pes",
+ "segment of pes",
+ "voluntary movement behavior",
+ "Renal hypoplasia/aplasia",
+ "localised reproductive structure",
+ "digitopodium region",
+ "fused manual digit and manual digit",
+ "pedal digitopodium region",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "lower limb segment",
+ "increased length of the anatomical structure",
+ "pedal digitopodium bone",
+ "prepuce of penis",
+ "concave 3-D shape anatomical entity",
+ "digit morphology phenotype",
+ "pelvic complex",
+ "duodenum",
+ "formed organ subunit",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "joint of girdle morphology phenotype",
+ "Proptosis",
+ "hindlimb stylopod",
+ "lower limb segment phenotype",
+ "pelvic girdle skeleton",
+ "pedal digit morphology phenotype",
+ "posterior region of body",
+ "Abnormal lower limb bone morphology",
+ "incomplete closing of the arch of centrum of vertebra",
+ "renal/urinary system phenotype",
+ "Abnormality of the upper urinary tract",
+ "radius endochondral element",
+ "skin of face morphology phenotype",
+ "Abnormal renal morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal cardiovascular system morphology",
+ "Abnormal ocular adnexa morphology",
+ "cavitated compound organ phenotype",
+ "Abnormal localization of kidney",
+ "Ocular anterior segment dysgenesis",
+ "Abnormal anus morphology",
+ "compound organ phenotype",
+ "decreased functionality of the reproductive organ",
+ "Abnormality of the female genitalia",
+ "cardiac ventricle morphology phenotype",
+ "renal system morphology phenotype",
+ "male reproductive system morphology phenotype",
+ "orbital region phenotype",
+ "Abnormality of the kidney",
+ "neural tube closure phenotype",
+ "kidney",
+ "mouth",
+ "Aplasia/Hypoplasia of the iris",
+ "midface morphology phenotype",
+ "oral cavity morphology phenotype",
+ "morphological feature phenotype",
+ "myocardium morphology phenotype",
+ "incomplete closing of the anatomical structure",
+ "Abnormal oral cavity morphology",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal aortic valve morphology",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "soft palate",
+ "soft palate morphology phenotype",
+ "Abnormal soft palate morphology",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "malformed anatomical entity",
+ "subdivision of organism along main body axis",
+ "formed anterior chamber of eyeball",
+ "Abnormal hip joint morphology",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "fused digit and digit",
+ "decreased length of organ",
+ "formed multicellular anatomical structure",
+ "iris phenotype",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "formed anatomical structure",
+ "formed material anatomical entity",
+ "decreased length of mesoderm-derived structure",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "palatine uvula phenotype",
+ "Joint dislocation",
+ "Abnormal uvea morphology",
+ "Abnormality iris morphology",
+ "circulatory organ",
+ "uvea",
+ "anatomical collection",
+ "Macule",
+ "increased biological_process in skin of body",
+ "posterior nasal aperture atresia",
+ "cerebral hemisphere morphology phenotype",
+ "Hypospadias",
+ "fused manual digit and anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "musculature",
+ "Localized skin lesion",
+ "Abnormal 5th finger morphology",
+ "Abnormal thumb morphology",
+ "aplasia or hypoplasia of ulna",
+ "Abnormal size of the palpebral fissures",
+ "autopod region phenotype",
+ "Finger clinodactyly",
+ "anatomical entity morphology in the manus phenotype",
+ "manual digit",
+ "skeleton phenotype",
+ "manus morphology phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "Abnormality of the hand",
+ "bone of hip region",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "amniotic fluid",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "neural crest-derived structure phenotype",
+ "manual digit morphology in the manus phenotype",
+ "decreased pigmentation in skin of body",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia involving the skeleton",
+ "fused digit and anatomical entity",
+ "anatomical entity mass density phenotype",
+ "pelvic girdle bone/zone",
+ "eye movement phenotype",
+ "respiratory system phenotype",
+ "Abnormality of bone mineral density",
+ "brain ventricle/choroid plexus phenotype",
+ "bone element mass density phenotype",
+ "biogenic amine secreting cell",
+ "ossification",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "deviation of anatomical entity",
+ "digit 1 or 5",
+ "cranial nerve related reflex",
+ "manual digit 5 morphology phenotype",
+ "manual digit 5",
+ "spatial pattern of anatomical entity phenotype",
+ "digit 1 or 5 phenotype",
+ "digit 5 plus metapodial segment",
+ "digestive system",
+ "decreased length of endochondral bone",
+ "Deviation of the hand or of fingers of the hand",
+ "appendicular skeletal system",
+ "deviation of manual digit 5",
+ "deviation of manual digit",
+ "decreased functionality of the organ part",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "ulna phenotype",
+ "increased height of the secondary palate",
+ "Tetralogy of Fallot",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "genitourinary system",
+ "Limb undergrowth",
+ "decreased size of the forelimb endochondral element",
+ "cardiac ventricle morphology in the heart phenotype",
+ "decreased size of the anatomical entity",
+ "Upper limb undergrowth",
+ "decreased length of material anatomical entity",
+ "decreased length of skeletal element",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the endochondral bone",
+ "Hematological neoplasm",
+ "decreased size of the organ",
+ "ulna hypoplasia",
+ "head bone phenotype",
+ "decreased size of the bone of pectoral complex",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "decreased size of the bone of free limb or fin",
+ "increased response to external stimulus",
+ "forelimb zeugopod bone hypoplasia",
+ "forelimb long bone phenotype",
+ "paired limb/fin skeleton",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "Hypoplasia of the ulna",
+ "decreased size of the bone element",
+ "Short forearm",
+ "decreased length of limb endochondral element",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased size of the bone of appendage girdle complex",
+ "increased length of the zone of skin",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Cardiomyopathy",
+ "flat bone",
+ "pelvic region element",
+ "Hyperpigmentation of the skin",
+ "limb joint",
+ "anatomical conduit atresia",
+ "joint of girdle",
+ "manus phenotype",
+ "hindlimb joint phenotype",
+ "zone of bone organ",
+ "skeletal joint",
+ "articulation phenotype",
+ "Micrognathia",
+ "anatomical entity dislocation",
+ "skeletal joint dislocation",
+ ],
+ },
+ {
+ "id": "MONDO:1011502",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, cattle",
+ "description": "Fanconi syndrome that occurs in cattle.",
+ "provided_by": "phenio_nodes",
+ "xref": ["OMIA:000366-9913"],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "MONDO:0001083",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome",
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
+ "provided_by": "phenio_nodes",
+ "xref": [
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624",
+ ],
+ "synonym": [
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
+ "adult Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "MONDO:0009217",
+ "category": "biolink:Disease",
+ "name": "Fanconi-like syndrome",
+ "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
+ "provided_by": "phenio_nodes",
+ "xref": [
+ "DOID:0090066",
+ "MEDGEN:56237",
+ "MESH:C536855",
+ "OMIM:227850",
+ "SCTID:236469003",
+ "UMLS:C0151638",
+ ],
+ "synonym": ["Fanconi-like syndrome"],
+ "namespace": "MONDO",
+ "has_phenotype": ["HP:0005939", "HP:0002754", "HP:0001876", "HP:0002783", "HP:0007606"],
+ "has_phenotype_label": [
+ "Multiple bilateral pneumothoraces",
+ "Osteomyelitis",
+ "Pancytopenia",
+ "Recurrent lower respiratory tract infections",
+ "Multiple cutaneous malignancies",
+ ],
+ "has_phenotype_count": 5,
+ "has_phenotype_closure": [
+ "UPHENO:3000003",
+ "HP:0001574",
"UBERON:0004121",
- "UPHENO:0082875",
- "UPHENO:0076776",
- "UPHENO:0046538",
- "UBERON:0000468",
- "UPHENO:0002313",
- "UBERON:0005178",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0033590",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0004507",
- "UPHENO:0076692",
- "UBERON:0004288",
- "UBERON:0004573",
- "HP:0000929",
- "UPHENO:0078122",
- "HP:0002589",
- "HP:0011283",
- "UPHENO:0071344",
- "UPHENO:0003069",
- "UPHENO:0002983",
- "UPHENO:0075655",
- "UPHENO:0050065",
- "UPHENO:0003827",
- "GO:0010556",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "UPHENO:0026806",
- "UBERON:5002544",
- "UPHENO:0076723",
- "UPHENO:0009195",
- "UBERON:0002413",
- "UPHENO:0009136",
- "HP:0002818",
- "UPHENO:0026317",
- "UPHENO:0015277",
- "CL:0000457",
- "UPHENO:0086176",
- "PATO:0000001",
- "UPHENO:0003086",
- "UPHENO:0081511",
- "UPHENO:0069480",
- "HP:0011842",
- "UPHENO:0003017",
- "UPHENO:0025852",
- "UBERON:5101463",
- "UBERON:0002085",
- "UPHENO:0087596",
- "UPHENO:0002641",
- "UPHENO:0079876",
- "UPHENO:0063629",
- "UBERON:0000915",
- "UPHENO:0066907",
- "UPHENO:0002531",
- "UPHENO:0002816",
+ "HP:0011793",
+ "HP:0007606",
+ "UBERON:0002097",
+ "UBERON:0002199",
+ "UBERON:0002416",
+ "UPHENO:0002635",
+ "HP:0002664",
+ "HP:0032101",
+ "HP:0011947",
+ "HP:0002783",
+ "HP:0002719",
+ "UPHENO:0011498",
+ "UPHENO:0086172",
+ "UPHENO:0080010",
+ "CL:0000738",
+ "UBERON:0000479",
+ "UPHENO:0087123",
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+ "has_phenotype_closure_label": [
+ "Multiple cutaneous malignancies",
+ "Neoplasm of the skin",
+ "integument phenotype",
+ "Neoplasm",
+ "skin of body phenotype",
+ "Neoplasm by anatomical site",
+ "Respiratory tract infection",
+ "Recurrent lower respiratory tract infections",
+ "Recurrent infections",
+ "Unusual infection",
+ "Abnormal immune system morphology",
+ "Abnormal platelet morphology",
+ "decreased number of hematopoietic cell",
+ "decreased number of cell",
+ "leukocyte",
+ "Pancytopenia",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal bone marrow cell morphology",
+ "number of platelet phenotype",
+ "number of myeloid cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormal myeloid cell morphology",
+ "secretory cell",
+ "Abnormal leukocyte count",
+ "cell phenotype",
+ "skeletal element",
+ "blood cell phenotype",
+ "cell",
+ "decreased number of anatomical structure",
+ "integumental system",
+ "immune system morphology phenotype",
+ "Abnormal skeletal morphology",
+ "number of hematopoietic cell phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "bone marrow cell",
+ "Abnormal cellular immune system morphology",
+ "erythrocyte",
+ "ectoderm-derived structure phenotype",
+ "hematopoietic system phenotype",
+ "platelet",
+ "Abnormal cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "serotonin secreting cell",
+ "hematopoietic cell",
+ "number of cell phenotype",
+ "bone marrow",
+ "decreased number of material anatomical entity",
+ "hemolymphoid system",
+ "bone cell",
+ "integument",
+ "eukaryotic cell",
+ "nucleate cell",
+ "anucleate cell",
+ "increased defense response in bone element",
+ "Abnormality of the respiratory system",
+ "oxygen accumulating cell",
+ "material anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "Abnormal respiratory system physiology",
+ "organism",
+ "Abnormality of thrombocytes",
+ "organ",
+ "anatomical system",
+ "tissue",
+ "continuant",
+ "thoracic segment of trunk",
+ "anatomical entity morphology phenotype",
+ "Abnormality of the integument",
+ "protein-containing material entity",
+ "multicellular organism",
+ "anatomical entity physiology phenotype",
+ "skin of body",
+ "skeletal system",
+ "Metazoa",
+ "trunk region element",
+ "blood cell",
+ "respiration organ",
+ "body proper",
+ "tube",
+ "Pneumothorax",
+ "increased response to stress in bone element",
+ "mesoderm-derived structure",
+ "decreased number of platelet",
+ "phenotypic effect",
+ "anatomical system physiology phenotype",
+ "neoplasm phenotype",
+ "Increased inflammatory response",
+ "decreased number of myeloid cell",
+ "thoracic cavity element",
+ "respiratory system morphology phenotype",
+ "anatomical entity",
+ "lateral structure",
+ "hematopoietic system",
+ "Abnormality of the skeletal system",
+ "cellular organisms",
+ "Opisthokonta",
+ "mixed endoderm/mesoderm-derived structure",
+ "ectoderm-derived structure",
+ "proximo-distal subdivision of respiratory tract",
+ "entity",
+ "disconnected anatomical group",
+ "Abnormal platelet count",
+ "material anatomical entity",
+ "compound organ",
+ "increased inflammatory response in bone element",
+ "organ phenotype",
+ "pleura morphology phenotype",
+ "pleural sac",
+ "increased qualitatively biological_process",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "anatomical entity phenotype",
+ "anatomical structure physiology phenotype",
+ "Eukaryota",
+ "Abnormality of the musculoskeletal system",
+ "serous membrane",
+ "multicellular organism morphology phenotype",
+ "respiratory system phenotype",
+ "material entity",
+ "multi-tissue structure",
+ "Abnormality of the immune system",
+ "phenotype",
+ "Abnormal pleura morphology",
+ "musculoskeletal system",
+ "quality",
+ "endoderm-derived structure",
+ "multicellular anatomical structure phenotype",
+ "defense response",
+ "Eumetazoa",
+ "material anatomical entity physiology phenotype",
+ "Multiple bilateral pneumothoraces",
+ "Recurrent respiratory infections",
+ "respiratory system",
+ "response to stress phenotype",
+ "subdivision of trunk",
+ "Abnormal respiratory system morphology",
+ "organ part",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "leukocyte morphology phenotype",
+ "serous sac",
+ "erythroid lineage cell",
+ "multicellular anatomical structure",
+ "taxon specific phenotype",
+ "anatomical collection",
+ "biological_process rate phenotype",
+ "thoracic segment organ",
+ "biogenic amine secreting cell",
+ "Abnormal musculoskeletal physiology",
+ "decreased number of anatomical entity",
+ "viscus",
+ "anatomical structure",
+ "musculoskeletal system phenotype",
+ "anatomical conduit",
+ "musculature",
+ "increased qualitatively response to stimulus",
+ "Thrombocytopenia",
+ "Abnormality of immune system physiology",
+ "trunk",
+ "myeloid cell",
+ "root",
+ "immune system",
+ "response to stress",
+ "organ system subdivision",
+ "All",
+ "Abnormal lung morphology",
+ "motile cell",
+ "independent continuant",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "respiratory tract",
+ "organism subdivision",
+ "main body axis",
+ "biological_process phenotype",
+ "anatomical structure phenotype",
+ "defense response phenotype",
+ "respiratory airway",
+ "lower respiratory tract",
+ "anatomical wall",
+ "subdivision of tube",
+ "non-connected functional system",
+ "increased qualitatively inflammatory response",
+ "respiratory system physiology phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "lung",
+ "increased inflammatory response",
+ "Abnormal inflammatory response",
+ "specifically dependent continuant",
+ "inflammatory response",
+ "increased response to stimulus in bone element",
+ "Osteomyelitis",
+ "biological_process",
+ "increased biological_process in bone element",
+ "skeletal system phenotype",
+ "inflammatory response phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "Abnormal leukocyte morphology",
+ "response to stimulus",
+ "platelet phenotype",
+ "increased response to stimulus",
+ "immune system physiology phenotype",
+ "occurrent",
+ "pleura",
+ "process",
+ "Abnormality of the skin",
+ "musculature of body",
+ "organ system subdivision phenotype",
+ "response to stimulus phenotype",
+ "increased biological_process",
+ "immune system phenotype",
+ "pair of lungs",
+ "musculoskeletal system physiology phenotype",
+ ],
+ },
+ {
+ "id": "MONDO:0060779",
+ "category": "biolink:Disease",
+ "name": "acquired Fanconi syndrome",
+ "description": "Fanconi Syndrome caused by exposure to noxious agents.",
+ "provided_by": "phenio_nodes",
+ "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"],
+ "synonym": ["acquired Fanconi syndrome"],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "MONDO:0060778",
+ "category": "biolink:Disease",
+ "name": "adult Fanconi syndrome",
+ "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
+ "provided_by": "phenio_nodes",
+ "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
+ "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "namespace": "MONDO",
+ "has_phenotype": ["HP:0003581"],
+ "has_phenotype_count": 1,
+ "has_phenotype_closure": ["HP:0003581"],
+ },
+ {
+ "id": "MONDO:1011504",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, horse",
+ "description": "Fanconi syndrome that occurs in horse.",
+ "provided_by": "phenio_nodes",
+ "xref": ["OMIA:000366-9796"],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "MONDO:0007600",
+ "category": "biolink:Disease",
+ "name": "primary Fanconi syndrome",
+ "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.",
+ "provided_by": "phenio_nodes",
+ "xref": ["GARD:9118", "MEDGEN:341765", "NCIT:C123229", "Orphanet:3337", "UMLS:C1857395"],
+ "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0000117",
+ "HP:0003774",
+ "HP:0004918",
+ "HP:0002206",
+ "HP:0001943",
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+ "HP:0012606",
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+ "HP:0003126",
+ "HP:0003076",
+ "HP:0002909",
+ "HP:0002049",
+ "HP:0001510",
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Renal phosphate wasting",
+ "Stage 5 chronic kidney disease",
+ "Hyperchloremic metabolic acidosis",
+ "Pulmonary fibrosis",
+ "Hypoglycemia",
+ "Hypercalciuria",
+ "Dehydration",
+ "Chronic kidney disease",
+ "Renal sodium wasting",
+ "Hypophosphatemic rickets",
+ "Hypouricemia",
+ "Decreased circulating carnitine concentration",
+ "Increased urinary potassium",
+ "Hypokalemia",
+ "Increased susceptibility to fractures",
+ "Bone pain",
+ "Hypophosphatemia",
+ "Weight loss",
+ "Muscle weakness",
+ "Abnormal urine pH",
+ "Bicarbonate-wasting renal tubular acidosis",
+ "Bicarbonaturia",
+ "Hyperuricosuria",
+ "Low-molecular-weight proteinuria",
+ "Glycosuria",
+ "Generalized aminoaciduria",
+ "Proximal renal tubular acidosis",
+ "Growth delay",
+ ],
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- "UBERON:0002046",
- "UPHENO:0076957",
- "UPHENO:0077391",
- "UPHENO:0049890",
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- "UPHENO:0004802",
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- "UBERON:0002616",
- "UBERON:0003834",
- "HP:0000079",
- "UPHENO:0080208",
- "UPHENO:0075948",
- "UPHENO:0026643",
- "UBERON:0002470",
- "UPHENO:0071335",
- "HP:0012443",
- "HP:0007364",
+ "UPHENO:0066959",
+ "HP:0012598",
+ "UBERON:0000475",
+ "UPHENO:0087433",
+ "UPHENO:0066950",
+ "CHEBI:83821",
+ "HP:0002206",
+ "UBERON:0000064",
+ "UPHENO:0002346",
+ "UBERON:0001004",
+ "UPHENO:0002754",
+ "HP:0012252",
+ "UPHENO:0000543",
+ "HP:0003076",
+ "UBERON:0013522",
+ "UPHENO:0076286",
+ "UPHENO:0004459",
+ "CHEBI:33285",
+ "UPHENO:0080555",
+ "HP:0011015",
+ "UPHENO:0081547",
+ "UBERON:0000065",
+ "HP:0032180",
+ "GO:0110165",
+ "CHEBI:35605",
+ "UPHENO:0051887",
+ "CHEBI:17544",
+ "GO:0048878",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "BFO:0000001",
+ "UPHENO:0002554",
+ "UPHENO:0051739",
+ "UPHENO:0051900",
+ "HP:0011014",
+ "BFO:0000002",
+ "UPHENO:0089764",
+ "HP:0004354",
+ "UBERON:0004120",
+ "UPHENO:0066946",
+ "CHEBI:17234",
+ "CHEBI:36587",
+ "UPHENO:0089294",
+ "HP:0001871",
+ "HP:0004912",
+ "HP:0001941",
+ "UPHENO:0051804",
+ "GO:0043229",
+ "GO:0033500",
+ "UPHENO:0050619",
+ "CHEBI:50860",
+ "UPHENO:0046281",
+ "GO:0042593",
+ "CHEBI:25806",
+ "CHEBI:36962",
+ "HP:0025745",
+ "CHEBI:18133",
+ "UPHENO:0081544",
+ "CHEBI:15693",
+ "UPHENO:0068134",
+ "HP:0000117",
+ "UBERON:0002113",
+ "CHEBI:33250",
+ "CHEBI:33559",
+ "CHEBI:16541",
+ "GO:0050878",
+ "UPHENO:0046344",
+ "HP:0011280",
+ "CHEBI:36586",
+ "CHEBI:33521",
+ "UPHENO:0086172",
"GO:0065008",
- "UPHENO:0071339",
- "HP:0001631",
- "UPHENO:0071315",
- "UPHENO:0041821",
- "UPHENO:0049874",
- "HP:0002308",
- "UBERON:0000073",
- "UPHENO:0081579",
- "HP:0001367",
- "UBERON:0005174",
- "HP:0001000",
- "HP:0003468",
- "UBERON:0006555",
- "UBERON:0005434",
- "UBERON:0000982",
- "HP:0002118",
- "UPHENO:0004047",
- "UPHENO:0002713",
- "UPHENO:0002813",
- "UPHENO:0002646",
- "UBERON:0004905",
- "UPHENO:0003092",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0078067",
- "UBERON:0001436",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0004621",
- "UPHENO:0069163",
- "UBERON:0002101",
- "UPHENO:0078068",
- "UPHENO:0002616",
- "UBERON:0002090",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0026994",
- "HP:0045060",
- "UPHENO:0046405",
- "UPHENO:0078125",
- "UBERON:0010913",
- "UPHENO:0003812",
- "UBERON:0004247",
- "UBERON:0012354",
- "UPHENO:0078169",
- "UPHENO:0002674",
- "UPHENO:0076767",
- "UPHENO:0002769",
- "UPHENO:0049927",
- "UBERON:0002412",
- "HP:0001874",
+ "CHEBI:35281",
+ "BFO:0000020",
+ "HP:0011032",
+ "CHEBI:26708",
+ "UPHENO:0046356",
+ "UBERON:0001015",
+ "UPHENO:0003088",
+ "HP:0012606",
+ "CHEBI:24431",
+ "CHEBI:33318",
+ "HP:0003111",
+ ],
+ "has_phenotype_closure_label": [
+ "Growth delay",
+ "delayed growth",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "amino acid",
+ "urine amino acid level phenotype",
+ "urine glucose level phenotype",
+ "macromolecule",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "organic amino compound",
+ "urine uric acid level phenotype",
+ "increased level of purines",
+ "Hyperuricosuria",
+ "urine hydrogencarbonate level phenotype",
+ "Abnormality of urine bicarbonate level",
+ "hydrogencarbonate level phenotype",
+ "increased level of hydrogencarbonate in urine",
+ "hydrogencarbonate",
+ "decreased functionality of the nephron epithelium",
+ "tissue physiology phenotype",
+ "increased level of uric acid in urine",
+ "nephron tubule phenotype",
+ "decreased functionality of the nephron tubule",
+ "decreased functionality of the epithelium",
+ "nephron",
+ "excretory tube",
+ "decreased functionality of the anatomical structure",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "decreased functionality of the tissue",
+ "decreased functionality of the renal tubule",
+ "Renal tubular acidosis",
+ "Renal tubular dysfunction",
+ "tube phenotype",
+ "decreased functionality of the tube",
+ "epithelium",
+ "decreased functionality of the material anatomical entity",
+ "renal tubule",
+ "decreased functionality of the multicellular anatomical structure",
+ "epithelial tube phenotype",
+ "uriniferous tubule",
+ "nephron epithelium",
+ "renal tubule phenotype",
+ "muscle structure phenotype",
+ "decreased anatomical entity strength",
+ "multicellular organism mass phenotype",
+ "multicellular anatomical structure mass phenotype",
+ "Weight loss",
+ "anatomical entity mass phenotype",
+ "Decreased body weight",
+ "decreased anatomical structure mass",
+ "multicellular organism phenotype",
+ "Abnormality of body weight",
+ "Decreased multicellular organism mass",
+ "tube physiology phenotype",
+ "Constitutional symptom",
+ "Pain",
+ "anatomical entity dysfunction in independent continuant",
+ "Abnormal musculoskeletal physiology",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "monovalent inorganic cation",
+ "Abnormal blood cation concentration",
+ "inorganic molecular entity",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
+ "urine potassium atom level phenotype",
+ "s-block molecular entity",
+ "intracellular organelle",
+ "membrane-bounded organelle",
+ "cellular_component phenotype",
+ "Abnormality of the mitochondrion",
+ "musculoskeletal system phenotype",
+ "Abnormal circulating fatty-acid concentration",
+ "blood monocarboxylic acid level phenotype",
+ "nephron tubule",
+ "hydrogen molecular entity",
+ "hydroxides",
+ "oxide",
+ "intracellular membrane-bounded organelle",
+ "Abnormal circulating carnitine concentration",
+ "muscle organ",
+ "Increased urinary potassium",
+ "dipolar compound",
+ "oxoanion",
+ "muscle organ physiology phenotype",
+ "Abnormal cellular phenotype",
+ "amino acid derivative level phenotype",
+ "Abnormal circulating carboxylic acid concentration",
+ "increased level of organic acid in urine",
+ "amino-acid betaine",
+ "monocarboxylic acid",
+ "cell",
+ "Abnormal blood potassium concentration",
+ "carbon oxoacid",
+ "monocarboxylic acid anion",
+ "carbonyl compound",
+ "zwitterion",
+ "blood fatty acid anion level phenotype",
+ "Decreased circulating carnitine concentration",
+ "amino acid derivative",
+ "nephron epithelium phenotype",
+ "quaternary nitrogen compound",
+ "polyatomic anion",
+ "fatty acid anion",
+ "carboxylic acid",
+ "muscle structure physiology phenotype",
+ "lipid level phenotype",
+ "Abnormality of mitochondrial metabolism",
+ "molecule",
+ "cation",
+ "decreased level of purines",
+ "blood nitrogen molecular entity level phenotype",
+ "increased level of chemical entity in blood",
+ "blood nucleobase level phenotype",
+ "Azotemia",
+ "cyclic compound",
+ "organic molecule",
+ "polycyclic compound",
+ "nitrogen molecular entity",
+ "aromatic compound",
+ "Abnormal circulating nitrogen compound concentration",
+ "blood uric acid level phenotype",
+ "decreased level of uric acid in blood",
+ "imidazopyrimidine",
+ "growth",
+ "heteropolycyclic compound",
+ "heterobicyclic compound",
+ "organic heterocyclic compound",
+ "increased level of nitrogen molecular entity in blood",
+ "decreased functionality of the excretory tube",
+ "organonitrogen heterocyclic compound",
+ "Hypouricemia",
+ "increased level of chemical entity in bodily fluid",
+ "monoatomic entity",
+ "monoatomic ion",
+ "decreased level of chemical entity in blood",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "Hypophosphatemic rickets",
+ "Abnormal urine carboxylic acid level",
+ "decreased level of chemical entity",
+ "ion",
+ "cavitated compound organ",
+ "skeletal element",
+ "Abnormal circulating lipid concentration",
+ "Phenotypic abnormality",
+ "organic heteropolycyclic compound",
+ "blood organic molecular entity level phenotype",
+ "trunk region element phenotype",
+ "mitochondrion phenotype",
+ "abdominal segment of trunk",
+ "trunk region element",
+ "amide",
+ "chemical entity level phenotype",
+ "decreased functionality of the anatomical conduit",
+ "Chronic kidney disease",
+ "muscle structure",
+ "lipid",
+ "material anatomical entity",
+ "Hypoglycemia",
+ "Abnormality of the kidney",
+ "cavitated compound organ physiology phenotype",
+ "organic molecular entity",
+ "abdomen element",
+ "abdominal segment element physiology phenotype",
+ "Abnormality of urinary uric acid level",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "main body axis",
+ "decreased level of carnitine in blood",
+ "Renal sodium wasting",
+ "intracellular anatomical structure",
+ "heteroatomic molecular entity",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "amino-acid betaine level phenotype",
+ "excretory system",
+ "abdomen element phenotype",
+ "p-block molecular entity",
+ "excretory tube physiology phenotype",
+ "homeostatic process",
+ "material anatomical entity mass phenotype",
+ "Abnormal respiratory system physiology",
+ "Abnormal muscle physiology",
+ "Increased susceptibility to fractures",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "renal system physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "decreased level of amino-acid betaine",
+ "multicellular organism morphology phenotype",
+ "trunk",
+ "chemical entity",
+ "phosphorus molecular entity",
+ "organic oxo compound",
+ "excreta",
+ "carboxylic acid anion",
+ "multicellular anatomical structure physiology phenotype",
+ "genitourinary system",
+ "atom",
+ "regulation of body fluid levels",
+ "Abnormality of the urinary system physiology",
+ "Abnormality of the respiratory system",
+ "respiration organ phenotype",
+ "uric acid",
+ "metal atom",
+ "organism substance",
+ "trunk region element physiology phenotype",
+ "homeostatic process phenotype",
+ "viscus",
+ "main group molecular entity",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "polyatomic entity",
+ "Abnormal blood ion concentration",
+ "taxon specific phenotype",
+ "aldohexose",
+ "tissue",
+ "anatomical system physiology phenotype",
+ "Bone pain",
+ "Abnormality of the upper urinary tract",
+ "phosphate level phenotype",
+ "Proteinuria",
+ "protein-containing material entity",
+ "thoracic segment organ phenotype",
+ "phosphate",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "musculoskeletal system physiology phenotype",
+ "Abnormal skeletal morphology",
+ "alkaline earth metal atom",
+ "skeletal system phenotype",
+ "protein polypeptide chain",
+ "Abnormal circulating nucleobase concentration",
+ "continuant",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "decreased role blood level",
+ "musculature",
+ "polypeptide",
+ "organic ion",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "musculature of body",
+ "organic cyclic compound",
+ "Hyperchloremic acidosis",
+ "Abnormal bone structure",
+ "entity",
+ "Decreased anatomical entity mass density",
+ "main group element atom",
+ "Abnormality of the musculoskeletal system",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "Hypokalemia",
+ "mitochondrion",
+ "anatomical structure phenotype",
+ "urine organic anion level phenotype",
+ "Abnormality of the genitourinary system",
+ "phosphoric acid derivative",
+ "quality",
+ "Reduced bone mineral density",
+ "Renal insufficiency",
+ "anatomical entity fibrosis",
+ "Abnormality of metabolism/homeostasis",
+ "polyatomic ion",
+ "Dehydration",
+ "heteroarene",
+ "anatomical system phenotype",
+ "kidney epithelium",
+ "obsolete cell",
+ "Abnormal blood phosphate concentration",
+ "compound organ",
+ "phosphorus oxoacids and derivatives",
+ "anion",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "lateral structure",
+ "purines",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "bone element",
+ "abdomen element physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "organonitrogen compound",
+ "anatomical entity phenotype",
+ "mesoderm-derived structure phenotype",
+ "increased level of calcium atom in urine",
+ "chemical homeostasis",
+ "organic anion",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "nucleobase",
+ "Abnormal urine phosphate concentration",
+ "Generalized aminoaciduria",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "heterocyclic compound",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "cavitated compound organ phenotype",
+ "cellular anatomical entity",
+ "blood carboxylic acid level phenotype",
+ "Renal phosphate wasting",
+ "Glycosuria",
+ "abdominal segment element",
+ "Abnormal bone ossification",
+ "increased level of potassium atom in urine",
+ "blood",
+ "kidney physiology phenotype",
+ "multicellular organismal process",
+ "Muscle weakness",
+ "organ part",
+ "multicellular anatomical structure",
+ "lung morphology phenotype",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "Decreased bone element mass density",
+ "decreased functionality of the epithelial tube",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "acid bodily fluid level phenotype",
+ "carbohydrate",
+ "biological_process",
+ "material entity",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "oxopurine",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "independent continuant",
+ "Proximal renal tubular acidosis",
+ "abdomen",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "lung fibrosis",
+ "material anatomical entity phenotype",
+ "calcium atom level phenotype",
+ "Bicarbonate-wasting renal tubular acidosis",
+ "cell phenotype",
+ "skeletal system morphology phenotype",
+ "decreased material anatomical entity mass",
+ "subdivision of organism along main body axis",
+ "ammonium betaine",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "musculature phenotype",
+ "regulation of body fluid levels phenotype",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "subdivision of trunk",
+ "growth phenotype",
+ "blood lipid level phenotype",
+ "Abnormal respiratory system morphology",
+ "organism subdivision",
+ "epithelium phenotype",
+ "organ system subdivision phenotype",
+ "respiratory tract",
+ "organelle",
+ "upper urinary tract phenotype",
+ "Acidosis",
+ "excretory tube phenotype",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "kidney",
+ "urine sodium atom level phenotype",
+ "Abnormal circulating carbohydrate concentration",
+ "aldose",
+ "glucose",
+ "bodily fluid",
+ "thoracic cavity element phenotype",
+ "Abnormal glucose homeostasis",
+ "onium betaine",
+ "Hyperchloremic metabolic acidosis",
+ "Metabolic acidosis",
+ "organic aromatic compound",
+ "Abnormality of acid-base homeostasis",
+ "fatty acid level phenotype",
+ "tube",
+ "process",
+ "urine calcium atom level phenotype",
+ "multicellular organism",
+ "hematopoietic system",
+ "thoracic cavity element",
+ "blood carnitine level phenotype",
+ "carnitine",
+ "cytoplasm",
+ "musculoskeletal system",
+ "respiratory system morphology phenotype",
+ "decreased multicellular anatomical structure mass",
+ "fatty acid",
+ "All",
+ "anatomical collection",
+ "thoracic segment organ",
+ "lower respiratory tract",
+ "lung phenotype",
+ "endoderm-derived structure",
+ "regulation of biological quality",
+ "pair of lungs",
+ "Bicarbonaturia",
+ "respiration organ",
+ "Abnormality of the musculature",
+ "thoracic segment of trunk",
+ "carbohydrates and carbohydrate derivatives",
+ "metabolic process",
+ "endoderm-derived structure phenotype",
+ "decreased muscle organ strength",
+ "cellular_component",
+ "bicyclic compound",
+ "biological regulation phenotype",
+ "respiratory system phenotype",
+ "Pulmonary fibrosis",
+ "carbon group molecular entity",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "tissue phenotype",
+ "Abnormal circulating organic compound concentration",
+ "epithelial tube",
+ "respiratory system",
+ "anatomical system",
+ "Abnormal lung morphology",
+ "haemolymphatic fluid",
+ "Abnormal pulmonary interstitial morphology",
+ "respiratory airway",
+ "subdivision of tube",
+ "monosaccharide",
+ "glucose homeostasis",
+ "carbon oxoanion",
+ "renal system phenotype",
+ "respiratory system physiology phenotype",
+ "potassium atom level phenotype",
+ "viscus phenotype",
+ "Rickets",
+ "hemolymphoid system",
+ "chemical homeostasis phenotype",
+ "carbohydrate homeostasis",
+ "blood carbohydrate level phenotype",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
+ "Abnormal circulating fatty-acid anion concentration",
+ "hematopoietic system phenotype",
+ "kidney phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "decreased functionality of the anatomical entity",
+ "lateral structure phenotype",
+ "role blood level phenotype",
+ "sodium atom",
+ "heteroorganic entity",
+ "organooxygen compound",
+ "Abnormal urinary electrolyte concentration",
+ "Stage 5 chronic kidney disease",
+ "mesoderm-derived structure",
+ "organic heterobicyclic compound",
+ "glucose homeostasis phenotype",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "Abnormality of the skeletal system",
+ "lung",
+ "Abnormality of fluid regulation",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "role bodily fluid level phenotype",
+ "hexose",
+ "epithelium physiology phenotype",
+ "blood glucose level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal blood glucose concentration",
+ "Abnormal circulating monocarboxylic acid concentration",
+ "Hypophosphatemia",
+ "role urine level phenotype",
+ "Decreased anatomical entity mass",
+ "s-block element atom",
+ "Hypercalciuria",
+ "inorganic cation",
+ "Abnormal cellular physiology",
+ "increased level of chemical entity",
+ "increased urine role level",
+ "decreased functionality of the kidney epithelium",
+ "calcium atom",
+ "Abnormality of urine calcium concentration",
+ "anatomical structure mass phenotype",
+ "increased level of chemical entity in urine",
+ "proximo-distal subdivision of respiratory tract",
+ "biological regulation",
+ "Abnormal urinary organic compound level",
+ "blood fatty acid level phenotype",
+ "regulation of biological quality phenotype",
+ "multicellular anatomical structure phenotype",
+ "Abnormal urine sodium concentration",
+ "sodium atom level phenotype",
+ "Abnormal urine potassium concentration",
+ "bone element mass density phenotype",
+ "carbohydrate homeostasis phenotype",
+ "alkali metal atom",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "blood phosphate level phenotype",
+ "primary amide",
+ "elemental molecular entity",
+ ],
+ },
+ {
+ "id": "MONDO:1011503",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, dog",
+ "description": "Fanconi syndrome that occurs in dog.",
+ "provided_by": "phenio_nodes",
+ "xref": ["OMIA:000366-9615"],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "MONDO:0030056",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 5",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"],
+ "synonym": [
+ "FANCONI RENOTUBULAR SYNDROME 5",
+ "FRTS5",
+ "Fanconi Renotubular Syndrome, Acadian Variant",
+ "Fanconi renotubular syndrome 5",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0003774",
+ "HP:0004918",
+ "HP:0002148",
+ "HP:0002206",
+ "HP:0004912",
+ "HP:0002857",
+ "HP:0045051",
+ "HP:0000093",
+ "HP:0003076",
+ "HP:0002097",
+ "HP:0030078",
+ "HP:0003355",
+ "HP:0005576",
+ "HP:0000822",
+ ],
+ "has_phenotype_label": [
+ "Stage 5 chronic kidney disease",
+ "Hyperchloremic metabolic acidosis",
+ "Hypophosphatemia",
+ "Pulmonary fibrosis",
+ "Hypophosphatemic rickets",
+ "Genu valgum",
+ "Decreased DLCO",
+ "Proteinuria",
+ "Glycosuria",
+ "Emphysema",
+ "Lung adenocarcinoma",
+ "Aminoaciduria",
+ "Tubulointerstitial fibrosis",
+ "Hypertension",
+ ],
+ "has_phenotype_count": 14,
+ "has_phenotype_closure": [
+ "HP:0002597",
+ "UBERON:0000055",
+ "UPHENO:0002678",
+ "HP:0030972",
+ "UPHENO:0002576",
+ "UBERON:0000477",
+ "HP:0000822",
+ "HP:0001626",
+ "UBERON:0002049",
+ "UBERON:0004535",
+ "UBERON:0001981",
+ "UBERON:0034923",
+ "UBERON:0000479",
+ "UPHENO:0087427",
+ "UBERON:0001231",
+ "UBERON:0004819",
+ "HP:0030760",
+ "UPHENO:0076779",
+ "HP:0000091",
+ "UPHENO:0076714",
+ "HP:0012210",
+ "UBERON:0009773",
+ "UBERON:0007684",
+ "UBERON:0004211",
+ "UPHENO:0051739",
+ "HP:0003355",
+ "CHEBI:33674",
+ "UBERON:0004537",
+ "UPHENO:0046286",
+ "UPHENO:0068169",
+ "HP:0031980",
+ "CHEBI:33709",
+ "CHEBI:24651",
+ "CHEBI:72695",
+ "CHEBI:36586",
+ "HP:0032943",
+ "HP:0030358",
+ "HP:0100526",
+ "HP:0012072",
+ "HP:0030078",
+ "HP:0011793",
+ "CHEBI:33575",
+ "MPATH:596",
+ "MPATH:14",
+ "HP:0002097",
+ "MPATH:25",
+ "HP:0025745",
+ "CHEBI:18133",
+ "CHEBI:17234",
+ "UPHENO:0068054",
+ "CHEBI:35381",
+ "MPATH:31",
+ "CHEBI:16646",
+ "HP:0000093",
+ "CHEBI:15693",
+ "UPHENO:0081544",
+ "UPHENO:0051686",
+ "HP:0032581",
+ "CHEBI:36962",
+ "MPATH:0",
+ "CHEBI:25806",
+ "CHEBI:50860",
+ "CHEBI:51143",
+ "CHEBI:16541",
+ "UPHENO:0048707",
+ "UPHENO:0046383",
+ "HP:0033354",
+ "CHEBI:37622",
+ "CHEBI:50047",
+ "CHEBI:16670",
+ "CHEBI:15841",
+ "CHEBI:36963",
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- "has_phenotype_closure_label": [
- "number of anatomical enitites of type tissue phenotype",
- "tissue phenotype",
- "gray matter of forebrain",
- "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
- "cell layer phenotype",
- "absent septum pellucidum",
- "gray matter",
- "septum pellucidum phenotype",
- "absent anatomical structure in the brain ventricle/choroid plexus",
- "gray matter phenotype",
- "gray matter of telencephalon",
- "number of anatomical enitites of type lamina phenotype",
- "septum pellucidum",
- "absent material anatomical entity in the brain ventricle",
- "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
- "absent multicellular anatomical structure in the brain",
- "absent cell layer",
- "brain gray matter phenotype",
- "cell layer",
- "absent anatomical entity in the brain ventricle",
- "Abnormal septum pellucidum morphology",
- "absent multicellular anatomical structure in the brain ventricle",
- "decreased anatomical structure mass",
- "material anatomical entity mass phenotype",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "multicellular organism mass phenotype",
- "Decreased anatomical entity mass",
- "cornea phenotype",
- "neural crest-derived structure",
- "tunica fibrosa of eyeball",
- "ectoderm-derived structure, curved phenotype",
- "asymmetrically curved cornea",
- "Abnormal cornea morphology",
- "curved anatomical entity",
- "anatomical structure, asymmetrically curved phenotype",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "curvature anatomical entity",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "Abnormality of the curvature of the cornea",
- "Astigmatism",
- "cornea",
- "anterior segment of eyeball morphology phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Renal hypoplasia",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "brain white matter phenotype",
- "axon tract phenotype",
- "corpus callosum morphology phenotype",
- "intercerebral commissure phenotype",
- "absent corpus callosum",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "cerebral hemisphere",
- "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
- "Thin corpus callosum",
- "number of anatomical enitites of type commissure of telencephalon phenotype",
- "absent axon tract",
- "absent commissure of telencephalon",
- "number of anatomical enitites of type central nervous system cell part cluster phenotype",
- "nervous system commissure phenotype",
- "multicellular anatomical structure, curved phenotype",
- "absent anatomical entity in the brain",
- "cerebral hemisphere white matter phenotype",
- "number of anatomical enitites of type nervous system commissure phenotype",
- "number of anatomical enitites of type multi cell part structure phenotype",
- "absent tissue",
- "brain commissure morphology phenotype",
- "brain commissure",
- "number of anatomical enitites of type tract of brain phenotype",
- "absent intercerebral commissure",
- "Agenesis of corpus callosum",
- "white matter",
- "absent tract of brain",
- "intercerebral commissure",
- "dorsal telencephalic commissure",
- "Aplasia/Hypoplasia of the corpus callosum",
- "white matter phenotype",
- "cerebral subcortex",
- "absent anatomical structure in the brain",
- "absent anatomical entity in the nervous system",
- "aplasia or hypoplasia of corpus callosum",
- "absent central nervous system cell part cluster",
- "dorsal telencephalic commissure morphology phenotype",
- "tract of brain phenotype",
- "brain white matter",
- "tract of brain",
- "number of anatomical enitites of type corpus callosum phenotype",
- "brain commissure phenotype",
- "Aplasia/Hypoplasia of the cerebral white matter",
- "shape of continuant phenotype",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "brain gray matter",
- "Horseshoe kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "reproductive system morphology phenotype",
- "reproductive system phenotype",
- "Abnormal size of pituitary gland",
- "gland of diencephalon phenotype",
- "diencephalon phenotype",
- "decreased size of the reproductive gland",
- "hypothalamus-pituitary axis phenotype",
- "reproductive structure phenotype",
- "decreased size of the structure with developmental contribution from neural crest",
- "decreased size of the reproductive organ",
- "decreased size of the endocrine gland",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "Abnormal pituitary gland morphology",
- "pituitary gland phenotype",
- "reproductive organ",
- "size of pituitary gland phenotype",
- "reproductive gland morphology phenotype",
- "diencephalon morphology phenotype",
- "reproductive organ phenotype",
- "hypothalamus-pituitary axis",
- "Abnormality of the kidney",
- "renal system morphology phenotype",
- "kidney phenotype",
- "abdomen element phenotype",
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+ ],
+ "has_phenotype_closure_label": [
+ "Abnormality of the vasculature",
+ "Abnormal systemic blood pressure",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "Hypertension",
+ "disconnected anatomical group",
+ "cardiovascular system",
+ "cardiovascular system physiology phenotype",
+ "kidney morphology phenotype",
+ "excretory tube",
+ "Renal fibrosis",
+ "Abnormal renal insterstitial morphology",
+ "kidney epithelium morphology phenotype",
"Abnormal renal morphology",
- "abdomen",
- "phalanx phenotype",
- "decreased size of the manus bone",
- "metacarpal bone of digit 1 morphology phenotype",
- "decreased size of the forelimb long bone",
- "decreased length of autopod endochondral element",
- "decreased length of manual digitopodium bone",
- "decreased size of the autopod endochondral element",
- "Aplasia/Hypoplasia of the phalanges of the thumb",
- "anatomical entity morphology in the skeleton of manus phenotype",
- "Aplasia/Hypoplasia of the phalanges of the hand",
- "abdomen element",
- "aplasia or hypoplasia of phalanx of manus",
- "decreased size of the digitopodium bone",
- "metacarpus skeleton phenotype",
- "decreased length of manual digit 1 phalanx endochondral element",
- "decreased length of manual digit bone",
- "phalanx endochondral element phenotype",
- "manus bone phenotype",
- "skeleton of digitopodium",
- "decreased length of phalanx of manus",
- "Small pituitary gland",
- "metapodium bone 1 phenotype",
- "Short metacarpal",
- "phalanx of manus phenotype",
- "Abnormal metacarpal morphology",
- "Short 1st metacarpal",
- "phalanx endochondral element",
- "manual digit phalanx endochondral element",
- "manual digit 1 digitopodial skeleton",
- "decreased length of phalanx",
- "Aplasia/Hypoplasia involving the metacarpal bones",
- "decreased length of manus bone",
- "absent anatomical structure in the brain ventricle",
- "decreased size of the phalanx endochondral element",
- "manual digit bone phenotype",
- "manual digit 1 metacarpus endochondral element phenotype",
- "manual digit phalanx endochondral element phenotype",
- "Short phalanx of the thumb",
- "Aplasia/Hypoplasia of the 1st metacarpal",
- "ocular surface region",
- "metacarpus skeleton",
- "digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "skeleton of manual acropodium",
- "skeleton of manual digitopodium",
- "metacarpal bone of digit 1 phenotype",
- "manual digit bone",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "metacarpus region",
- "metacarpal bone of digit 1",
- "manual digitopodium bone",
- "decreased size of the phalanx",
- "manual digit metacarpus endochondral element phenotype",
- "manual digit 1 phalanx endochondral element phenotype",
- "metacarpal bone",
- "metacarpal bone morphology phenotype",
- "manual digit 1 metacarpus endochondral element",
- "metapodium bone",
- "decreased length of manual digit metacarpus endochondral element",
- "decreased length of autopod bone",
- "metacarpal bone phenotype",
- "autopod bone phenotype",
- "decreased length of manual digit 1 metacarpus endochondral element",
- "phalanx morphology phenotype",
- "manual digitopodium bone phenotype",
- "manual digit 1 phalanx phenotype",
- "cardiac ventricle morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "interventricular septum",
- "cardiac ventricle",
- "Abnormal erythrocyte morphology",
- "Abnormal 1st metacarpal morphology",
- "erythroid lineage cell",
- "Irregular hyperpigmentation",
- "integumental system",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "incomplete closing of the thoracic segment blood vessel",
- "Abnormality of the integument",
- "outflow tract phenotype",
- "incomplete closing of the vessel",
- "Abnormal vascular morphology",
- "Renal hypoplasia/aplasia",
- "Abnormal morphology of the great vessels",
- "incomplete closing of the systemic artery",
- "vessel",
+ "Abnormal nephron morphology",
+ "nephron morphology phenotype",
+ "Increased blood pressure",
+ "Tubulointerstitial fibrosis",
+ "renal tubule",
+ "uriniferous tubule",
+ "nephron epithelium",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "oxoacid",
+ "increased level of organic acid in urine",
+ "renal system morphology phenotype",
+ "amino acid",
+ "increased level of carboxylic acid in urine",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Neoplasm",
+ "Neoplasm of the respiratory system",
+ "neoplasm phenotype",
+ "pathological process",
+ "Emphysema",
+ "tissue specific degenerative process",
+ "blood vasculature",
+ "pathological phenotype observation",
+ "Lung adenocarcinoma",
+ "increased level of monosaccharide in urine",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "macromolecule",
"vascular system",
- "conceptus",
- "incomplete closing of the ductus arteriosus",
- "blood vessel phenotype",
- "U-shaped kidney",
- "artery morphology phenotype",
+ "increased level of chemical entity in urine",
+ "carbon group molecular entity",
+ "organic molecular entity",
+ "nitrogen molecular entity",
+ "peptide",
+ "organic oxo compound",
+ "excreta",
+ "organooxygen compound",
+ "heteroorganic entity",
+ "Abnormal urine protein level",
+ "increased urine role level",
+ "increased level of chemical entity",
+ "urine",
+ "organic amino compound",
+ "role urine level phenotype",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
+ "organism subdivision, curved phenotype",
+ "long bone phenotype",
+ "limb morphology phenotype",
+ "nephron tubule",
+ "Abnormal renal tubule morphology",
+ "hydrogen molecular entity",
+ "endochondral bone phenotype",
+ "bone of appendage girdle complex phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "aldohexose",
+ "zone of organ",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "Abnormality of limbs",
+ "organism subdivision phenotype",
+ "appendicular skeleton",
+ "limb skeleton subdivision",
+ "appendicular skeletal system",
+ "endochondral element",
+ "epithelium",
+ "system",
+ "limb endochondral element phenotype",
+ "appendage girdle complex",
+ "lower limb segment, curved phenotype",
+ "pelvic complex",
+ "multi-limb segment region phenotype",
+ "endochondral element phenotype",
"blood vessel",
- "coronary vessel",
- "vessel phenotype",
- "incomplete closing of the heart blood vessel",
- "multicellular anatomical structure morphology in the heart phenotype",
- "blood vessel morphology phenotype",
- "vascular system morphology phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "systemic arterial system",
- "trunk blood vessel phenotype",
- "coronary vessel morphology phenotype",
- "vasculature of organ phenotype",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "blood vasculature",
- "vasculature of trunk",
- "trunk blood vessel",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "great vessel of heart",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "vasculature",
- "systemic artery",
- "Abnormal blood vessel morphology",
- "Abnormality of the vasculature",
- "incomplete closing of the trunk blood vessel",
- "great vessel of heart morphology phenotype",
- "arterial blood vessel phenotype",
- "incomplete closing of the coronary vessel",
- "Abnormal auditory canal morphology",
- "external acoustic meatus atresia",
- "external acoustic meatus phenotype",
- "closing of the endoderm-derived structure",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "absent endochondral element",
- "absent neuron projection bundle",
- "absent radius endochondral element",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "absent bone element",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "Abnormal cerebral white matter morphology",
- "hormone secretion",
- "absent skeletal element",
- "paired limb/fin",
- "Aplasia involving forearm bones",
- "absent forelimb bone",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "Hearing impairment",
- "bone of dorsum",
- "absent limb long bone",
- "kidney hypoplasia",
- "thyroid gland phenotype",
- "absent bone of pectoral complex",
- "decreased length of metacarpal bone of digit 1",
- "number of anatomical enitites of type organ phenotype",
- "absent organ in the multicellular organism",
- "absent bone of free limb or fin",
- "absent anatomical entity in the skeletal system",
- "absent multicellular anatomical structure",
- "absent anatomical entity in the forelimb",
- "autopod bone",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity",
- "number of anatomical enitites of type neuron projection bundle phenotype",
- "acropodium region",
- "Absent radius",
- "decreased biological_process",
- "absent bone element in the forelimb",
- "absent arm bone",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent bone of pectoral complex in the forelimb",
- "middle ear phenotype",
- "absent ectoderm-derived structure in the brain",
- "absent bone of pectoral complex in the limb",
- "middle ear",
- "pigmentation",
- "small intestine phenotype",
- "absent bone of free limb or fin in the limb",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "closing of the multicellular anatomical structure",
- "circulatory system",
- "digestive system element",
+ "multi-limb segment region",
+ "skeletal joint phenotype",
+ "Bowing of the long bones",
+ "shape hindlimb zeugopod",
+ "decreased level of chemical entity in blood",
+ "Abnormal urine carboxylic acid level",
+ "decreased level of chemical entity",
+ "blood monoatomic ion level phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "trunk",
+ "hindlimb joint",
+ "amide",
+ "Abnormality of limb bone",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "phosphorus molecular entity",
+ "primary amide",
"limb bone morphology phenotype",
- "small intestine morphology phenotype",
- "biogenic amine secreting cell",
- "closing of the anatomical system",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "cranial nerve II hypoplasia",
- "closing of the organ part",
+ "elemental molecular entity",
+ "main group molecular entity",
+ "haemolymphatic fluid",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "homeostatic process",
+ "Abnormal respiratory system physiology",
+ "cardiovascular system phenotype",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "ion",
+ "chemical entity",
+ "Hyperchloremic metabolic acidosis",
+ "zone of long bone",
+ "mesoderm-derived structure phenotype",
+ "organonitrogen compound",
+ "appendage",
+ "anatomical entity phenotype",
+ "bone element",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "organism substance",
+ "process",
+ "homeostatic process phenotype",
+ "Abnormal knee morphology",
+ "trunk region element physiology phenotype",
+ "viscus",
+ "articulation",
+ "skeletal joint morphology phenotype",
+ "kidney",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Abnormal tubulointerstitial morphology",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "Genu valgum",
+ "process of degenerative change",
+ "lower limb segment phenotype",
+ "organ phenotype",
+ "lung fibrosis",
+ "hematopoietic system phenotype",
+ "Abnormal limb bone morphology",
+ "blood chemical entity level phenotype",
+ "mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "abdomen element phenotype",
+ "circulatory system",
+ "long bone morphology phenotype",
+ "excretory system",
+ "main body axis",
+ "organism subdivision",
+ "limb segment phenotype",
+ "bone of appendage girdle complex",
+ "multicellular anatomical structure phenotype",
+ "skeletal system",
+ "subdivision of trunk",
+ "monoatomic entity",
+ "Abnormality of the lower limb",
+ "paired limb/fin segment, curved phenotype",
+ "blood",
+ "subdivision of organism along main body axis",
+ "Bowing of the legs",
+ "Abnormality of the skeletal system",
+ "lung",
+ "skeletal system morphology phenotype",
+ "carbohydrate",
+ "biological_process",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "limb bone phenotype",
+ "Hypophosphatemia",
+ "articular system",
+ "material entity",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "Decreased DLCO",
+ "blood phosphate level phenotype",
+ "body proper",
+ "biological_process phenotype",
+ "abdominal segment element phenotype",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "Phenotypic abnormality",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "Renal insufficiency",
+ "hindlimb zeugopod phenotype",
+ "respiration organ phenotype",
+ "anatomical structure",
+ "hindlimb zeugopod morphology phenotype",
"anatomical conduit",
- "Abnormal intestine morphology",
- "duodenum atresia",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "phosphate level phenotype",
+ "Proteinuria",
+ "material anatomical entity, curved phenotype",
+ "protein-containing material entity",
+ "hindlimb",
+ "Abnormality of the upper urinary tract",
+ "phosphate",
+ "thoracic segment organ phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "emphysema",
+ "lateral structure phenotype",
+ "polyatomic entity",
+ "Chronic kidney disease",
+ "material anatomical entity",
+ "posterior region of body",
+ "multicellular anatomical structure",
+ "lung morphology phenotype",
+ "kidney physiology phenotype",
+ "respiratory tract",
+ "organ system subdivision phenotype",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "Abnormality of the kidney",
+ "limb segment, curved phenotype",
+ "trunk region element phenotype",
+ "lateral structure",
+ "abdomen element",
+ "protein polypeptide chain",
+ "continuant",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical entity fibrosis",
+ "specifically dependent continuant",
+ "abdominal segment element physiology phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "zeugopod",
+ "skeletal element",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "zeugopod, curved phenotype",
+ "Abnormality of the urinary system physiology",
+ "Abnormality of the respiratory system",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "paired limb/fin segment phenotype",
+ "tissue",
+ "anatomical system physiology phenotype",
+ "bodily fluid",
+ "thoracic cavity element phenotype",
+ "material anatomical entity phenotype",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "independent continuant",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "Abnormal cardiovascular system physiology",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "Decreased anatomical entity mass density",
+ "anatomical entity physiology phenotype",
+ "zone of bone organ",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "renal system",
+ "phenotype",
+ "Hyperchloremic acidosis",
+ "Abnormal bone structure",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "organ",
+ "nephron",
+ "curved long bone",
+ "renal system physiology phenotype",
+ "kidney epithelium",
+ "Abnormal blood phosphate concentration",
+ "compound organ",
+ "phosphorus oxoacids and derivatives",
+ "shape long bone",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "abdominal segment of trunk",
+ "abdomen",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "material anatomical entity physiology phenotype",
+ "Neoplasm of the lung",
+ "phosphoric acid derivative",
+ "quality",
+ "Abnormality of the cardiovascular system",
+ "Abnormality of the genitourinary system",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "Neoplasm by anatomical site",
+ "p-block molecular entity",
+ "Elevated urinary carboxylic acid",
+ "cell and tissue damage process",
+ "skeleton",
+ "Abnormality on pulmonary function testing",
+ "leg phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "hematopoietic system",
"multicellular organism",
- "Abnormal gastrointestinal tract morphology",
- "external ear phenotype",
- "Abnormality of the head",
- "multi cell part structure",
- "closing of the subdivision of tube",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "absent bone of appendage girdle complex in the limb",
- "subdivision of digestive tract phenotype",
- "secretion by cell phenotype",
- "digestive tract",
- "skeleton of limb",
- "decreased length of manual digit phalanx endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "small intestine",
- "duodenum phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "tube phenotype",
- "sense organ physiology phenotype",
- "arm phenotype",
- "Abnormal immune system morphology",
- "Bone marrow hypocellularity",
- "leukocyte morphology phenotype",
- "system",
- "thoracic segment of trunk",
- "decreased length of endochondral element",
- "bone of pectoral complex phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
+ "thoracic cavity element",
+ "All",
+ "anatomical collection",
+ "thoracic segment organ",
+ "vessel",
+ "diaphysis",
+ "lower respiratory tract",
+ "lung phenotype",
+ "articulation phenotype",
+ "pelvic appendage",
+ "endoderm-derived structure",
+ "pair of lungs",
+ "respiration organ",
+ "shape of continuant phenotype",
+ "Abnormal DLCO",
+ "anatomical entity morphology phenotype",
"subdivision of organism along appendicular axis",
- "ventricular system of brain",
- "absent anatomical entity in the central nervous system",
- "aplasia or hypoplasia of anatomical entity",
- "decreased length of forelimb endochondral element",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "formed ectoderm-derived structure",
- "decreased size of the limb endochondral element",
- "middle ear physiology phenotype",
- "appendicular skeleton phenotype",
- "digestive system phenotype",
- "reproductive gland",
- "vertebra",
- "Optic nerve hypoplasia",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "aplastic anatomical entity",
- "vertebra phenotype",
- "skeleton phenotype",
- "subdivision of digestive tract",
- "decreased size of the reproductive structure",
- "regulation of gene expression",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "decreased qualitatively biological_process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "decreased length of metacarpal bone",
- "decreased nervous system process",
- "great vessel of heart phenotype",
- "bone of appendage girdle complex phenotype",
- "reproductive system",
- "material anatomical entity morphology in the heart phenotype",
- "decreased size of the organ",
- "decreased length of digitopodium bone",
- "radius bone phenotype",
- "aplasia or hypoplasia of skeleton",
- "cervical vertebra phenotype",
- "corpus callosum",
+ "thoracic segment of trunk",
+ "metabolic process",
+ "endoderm-derived structure phenotype",
+ "respiratory system phenotype",
+ "Pulmonary fibrosis",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "organ part",
+ "multicellular organismal process",
+ "epithelial tube",
+ "respiratory system",
+ "Abnormal pulmonary interstitial morphology",
+ "skeleton of limb",
+ "knee morphology phenotype",
+ "respiratory airway",
+ "subdivision of tube",
+ "renal system phenotype",
+ "respiratory system physiology phenotype",
+ "viscus phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "Abnormal skeletal morphology",
+ "Decreased bone element mass density",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "musculature of body",
+ "skeletal element phenotype",
+ "curved anatomical entity",
+ "skeletal system phenotype",
+ "lower limb segment",
+ "Reduced bone mineral density",
+ "bone element mass density phenotype",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "Abnormal respiratory system morphology",
+ "shape anatomical entity",
+ "paired limb/fin phenotype",
+ "curved hindlimb zeugopod",
+ "Abnormal appendicular skeleton morphology",
+ "appendage phenotype",
+ "knee phenotype",
+ "limb endochondral element",
+ "lateral structure physiology phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "paired limb/fin",
+ "multi organ part structure phenotype",
+ "paired limb/fin segment",
+ "Abnormality of the knee",
+ "monoatomic ion",
+ "leg",
+ "nephron tubule morphology phenotype",
+ "long bone",
+ "increased level of protein polypeptide chain in urine",
+ "Abnormal joint morphology",
+ "limb segment",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "hindlimb joint phenotype",
+ "heteroatomic molecular entity",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Organic aciduria",
+ "Abnormal diaphysis morphology",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "Rickets",
+ "multi organ part structure",
+ "vasculature phenotype",
+ "Non-small cell lung carcinoma",
+ "skeletal joint",
+ "organ, curved phenotype",
+ "skeletal element, curved phenotype",
+ "respiratory system morphology phenotype",
+ "musculoskeletal system",
+ "curvature anatomical entity",
+ "limb joint",
+ "limb bone",
+ "Hypophosphatemic rickets",
+ "knee",
+ "vasculature",
+ "Abnormal long bone morphology",
+ "hindlimb zeugopod",
+ "Abnormal lung morphology",
+ "anatomical system",
+ "Abnormality of lower limb joint",
+ "zeugopod phenotype",
+ "bone element, curved phenotype",
+ "limb",
+ ],
+ },
+ {
+ "id": "MONDO:0014275",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 3",
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"],
+ "synonym": [
+ "EHHADH Fanconi syndrome",
+ "FRTS3",
+ "Fanconi renotubular syndrome 3",
+ "Fanconi renotubular syndrome type 3",
+ "Fanconi syndrome caused by mutation in EHHADH",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001942",
+ "HP:0003259",
+ "HP:0001510",
+ "HP:0003109",
+ "HP:0002748",
+ "HP:0002979",
+ "HP:0003076",
+ "HP:0000083",
+ "HP:0004322",
+ "HP:0003355",
+ "HP:0003126",
+ ],
+ "has_phenotype_label": [
+ "Metabolic acidosis",
+ "Elevated circulating creatinine concentration",
+ "Growth delay",
+ "Hyperphosphaturia",
+ "Rickets",
+ "Bowing of the legs",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Short stature",
+ "Aminoaciduria",
+ "Low-molecular-weight proteinuria",
+ ],
+ "has_phenotype_count": 11,
+ "has_phenotype_closure": [
+ "HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:16670",
+ "CHEBI:15841",
+ "HP:0003355",
+ "CHEBI:33674",
+ "UPHENO:0046286",
+ "UPHENO:0068169",
+ "HP:0031980",
+ "CHEBI:50047",
+ "CHEBI:33575",
+ "HP:0032943",
+ "CHEBI:33709",
+ "CHEBI:24651",
+ "CHEBI:36586",
+ "HP:0012072",
+ "UPHENO:0075195",
+ "UPHENO:0069327",
+ "UPHENO:0068971",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0069254",
+ "UPHENO:0002949",
+ "UPHENO:0069266",
+ "UPHENO:0075159",
+ "UPHENO:0002386",
+ "UBERON:0000916",
+ "UBERON:0002417",
+ "UPHENO:0003094",
+ "UBERON:0005177",
+ "UPHENO:0002754",
+ "UPHENO:0002377",
+ "UPHENO:0002360",
+ "UBERON:0009569",
+ "UBERON:0013701",
+ "UPHENO:0002308",
+ "HP:0012211",
+ "UPHENO:0002422",
+ "UPHENO:0075902",
+ "UBERON:0000489",
+ "UBERON:0005173",
+ "UBERON:0011676",
+ "UPHENO:0003093",
+ "UPHENO:0002909",
+ "UPHENO:0002246",
+ "HP:0025745",
+ "CHEBI:18133",
+ "CHEBI:15693",
+ "UPHENO:0081544",
+ "CHEBI:17234",
+ "UPHENO:0068054",
+ "CHEBI:35381",
+ "HP:0000077",
+ "CHEBI:78616",
+ "CHEBI:36587",
+ "UPHENO:0089294",
+ "RO:0002577",
+ "UPHENO:0003070",
+ "UPHENO:0031166",
+ "HP:0040064",
+ "UPHENO:0041226",
+ "UBERON:0010912",
+ "UBERON:0000075",
+ "UBERON:0000475",
+ "UPHENO:0031220",
+ "UPHENO:0084767",
+ "UPHENO:0051739",
+ "UPHENO:0051900",
+ "UPHENO:3000004",
+ "HP:6000531",
+ "UPHENO:0068352",
+ "CHEBI:33839",
+ "CHEBI:26079",
+ "CHEBI:24833",
+ "UBERON:0001008",
+ "UPHENO:0068491",
+ "CHEBI:36360",
+ "HP:0430071",
+ "BFO:0000020",
+ "UBERON:0001088",
+ "HP:0003076",
+ "UPHENO:0000543",
+ "UPHENO:0031302",
+ "CHEBI:23367",
+ "UPHENO:0002526",
+ "HP:0006487",
+ "PR:000050567",
+ "BFO:0000003",
+ "HP:0011844",
+ "UBERON:0004709",
+ "CHEBI:55370",
+ "UBERON:8450002",
+ "HP:0012100",
+ "HP:0000002",
+ "HP:0033354",
+ "HP:0002157",
+ "UPHENO:0081423",
+ "UPHENO:0002642",
+ "CHEBI:25806",
+ "UBERON:0002113",
+ "UPHENO:0002585",
+ "CHEBI:50860",
+ "UPHENO:0079534",
+ "CHEBI:33661",
+ "UPHENO:0001002",
+ "HP:0004364",
+ "UPHENO:0078550",
+ "CHEBI:33675",
+ "UPHENO:0003005",
+ "CHEBI:25367",
+ "CHEBI:33285",
+ "UPHENO:0076727",
+ "CHEBI:36357",
+ "UPHENO:0051894",
+ "UPHENO:0086956",
+ "UPHENO:0000541",
+ "UPHENO:0068442",
+ "CHEBI:36963",
+ "UPHENO:0046383",
+ "CHEBI:36962",
+ "UPHENO:0002830",
+ "UPHENO:0080351",
+ "UPHENO:0076286",
+ "GO:0008152",
+ "UPHENO:0002385",
+ "HP:0001942",
+ "UPHENO:0002525",
+ "UPHENO:0002870",
+ "HP:0011277",
+ "UPHENO:0051763",
+ "UPHENO:0068049",
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+ "UBERON:0002193",
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+ "CHEBI:33832",
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+ "HP:0012591",
+ "HP:0001510",
+ "HP:0003109",
+ "HP:0001507",
+ "CHEBI:37577",
+ "GO:0040007",
+ "UPHENO:0031228",
+ "CHEBI:16737",
+ "HP:0001939",
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+ "HP:0000001",
+ "CHEBI:32988",
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+ "UPHENO:0049874",
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+ "HP:0001871",
+ "UPHENO:0002426",
+ "UPHENO:0046284",
+ "UBERON:0003103",
+ "UPHENO:0068110",
+ "UPHENO:0077817",
+ "HP:0000118",
+ "UBERON:0000178",
+ "UPHENO:0082539",
+ "UBERON:0004120",
+ "UPHENO:0002964",
+ "UBERON:0002101",
+ "UPHENO:0068144",
+ "UBERON:0010707",
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+ "BFO:0000001",
+ "HP:0012337",
+ "UPHENO:0076692",
+ "UPHENO:0002536",
+ "HP:0001941",
+ "UPHENO:0051804",
+ "UPHENO:0049904",
+ "UPHENO:0002559",
+ "CHEBI:5686",
+ "UPHENO:0002593",
+ "UPHENO:0089764",
+ "BFO:0000002",
+ "CHEBI:33256",
+ "UPHENO:0002926",
+ "UPHENO:0003065",
+ "CHEBI:33302",
+ "UPHENO:0002269",
+ "CHEBI:25693",
+ "UBERON:0000061",
+ "BFO:0000015",
+ "UBERON:0005055",
+ "UBERON:0006314",
+ "UPHENO:0003088",
+ "UBERON:0001015",
+ "BFO:0000040",
+ "UPHENO:0082834",
+ "UPHENO:0002861",
+ "HP:0004349",
+ "UBERON:0001062",
+ "PATO:0000001",
+ "UPHENO:0002442",
+ "UBERON:0000978",
+ "UBERON:0011249",
+ "CHEBI:33670",
+ "CHEBI:37622",
+ "CHEBI:24532",
+ "CHEBI:35352",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "CHEBI:33579",
+ "UBERON:0004769",
+ "UPHENO:0048707",
+ "HP:0011849",
+ "UPHENO:0003049",
+ "GO:0008150",
+ "UPHENO:0068064",
+ "CHEBI:72695",
+ "UPHENO:0002530",
+ "HP:0001992",
+ "UBERON:0002390",
+ "UBERON:0010000",
+ "UPHENO:0082536",
+ "HP:0032180",
+ "UPHENO:0081547",
+ "UPHENO:0002427",
+ "UPHENO:0077826",
+ "UBERON:0011216",
+ "UBERON:0005172",
+ "UPHENO:0052038",
+ "UBERON:0001969",
+ "UPHENO:0031339",
+ "UBERON:0013702",
+ "HP:0002813",
+ "CHEBI:33304",
+ "UPHENO:0068346",
+ "UPHENO:0049587",
+ "CHEBI:33595",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "HP:0012599",
+ "HP:0040156",
+ "UBERON:0000463",
+ "CHEBI:26020",
+ "HP:0000924",
+ "UBERON:0000174",
+ "GO:0001503",
+ "HP:0020129",
+ "UPHENO:0046348",
+ "CHEBI:36359",
+ "HP:0003110",
+ "HP:0010935",
+ "UBERON:0004122",
+ "UBERON:0002100",
+ "UPHENO:0082875",
+ "UBERON:0001474",
+ "CHEBI:26082",
+ "UPHENO:0031122",
+ "UPHENO:0051686",
+ "CHEBI:64709",
+ "UPHENO:0002267",
+ "UPHENO:0002976",
+ "HP:0003330",
+ "UPHENO:0041610",
+ "HP:0004348",
+ "UBERON:0000062",
+ "UPHENO:0084654",
+ "UPHENO:0076703",
+ "UBERON:0011143",
+ "UPHENO:0002816",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "UPHENO:0068251",
+ "UBERON:0004288",
+ "UBERON:0001434",
+ "HP:0000083",
+ "GO:0032501",
+ "UBERON:0002204",
+ "HP:0003126",
+ "UPHENO:0002803",
+ "UPHENO:0002832",
+ "HP:0002748",
+ "UBERON:0004708",
+ "HP:0011842",
+ "UPHENO:0084653",
+ "UPHENO:0082835",
+ "UPHENO:0031271",
+ "UBERON:0010740",
+ "UPHENO:0080658",
+ "UBERON:0002495",
+ "UPHENO:0002785",
+ "HP:0000079",
+ "UBERON:0002513",
+ "UBERON:0002529",
+ "UPHENO:0041536",
+ "GO:0042592",
+ "UBERON:0034925",
+ "UBERON:0000064",
+ "UPHENO:0031123",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "UPHENO:0080352",
+ "UBERON:0000179",
+ "UBERON:0000026",
+ "UPHENO:0068565",
+ "UPHENO:0002750",
+ "UBERON:0010363",
+ "UBERON:0010538",
+ "UPHENO:0051630",
+ "UBERON:0010712",
+ "CHEBI:35605",
+ "UPHENO:0041591",
+ "UBERON:0002091",
+ "UPHENO:0086780",
+ "UBERON:0010709",
+ "UBERON:0008784",
+ "UPHENO:0002983",
+ "UPHENO:0002944",
+ "HP:0002979",
+ "UBERON:0002471",
+ "HP:0040068",
+ "UPHENO:0075952",
+ "CHEBI:24995",
+ "UPHENO:0002945",
+ "UPHENO:0031318",
+ "UPHENO:0002600",
+ "UBERON:0011582",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "UBERON:0015061",
+ "CHEBI:33917",
+ "UBERON:0004375",
+ "UPHENO:0051635",
+ "UBERON:0001977",
+ "UBERON:0000383",
+ "UPHENO:0003095",
+ "UPHENO:0076285",
+ "UBERON:0015212",
+ "UPHENO:0041258",
+ "UBERON:0005913",
+ "UPHENO:0004459",
+ "UBERON:0002428",
+ "HP:0011314",
+ "UBERON:0034944",
+ "UPHENO:0080300",
+ "UPHENO:0002896",
+ "UPHENO:0031323",
+ "UPHENO:0031276",
+ "CHEBI:33608",
+ "HP:0000940",
+ "HP:0003259",
+ "UBERON:0010758",
+ "UPHENO:0076740",
+ "UPHENO:0086628",
+ "UBERON:0004381",
+ "HP:0002814",
+ "UPHENO:0002411",
+ "HP:0002981",
+ "UPHENO:0031142",
+ "UPHENO:0002731",
+ "UBERON:0006058",
+ ],
+ "has_phenotype_closure_label": [
+ "macromolecule",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "amino acid level phenotype",
+ "Abnormal urine carboxylic acid level",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "organic amino compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "Short stature",
+ "decreased height of the anatomical entity",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "kidney",
+ "upper urinary tract phenotype",
+ "abdomen element phenotype",
+ "subdivision of trunk",
+ "main body axis",
+ "subdivision of organism along main body axis",
+ "Abnormality of the kidney",
+ "Renal insufficiency",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "abdomen",
+ "trunk region element",
+ "multicellular anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "abdomen element",
+ "abdominal segment element physiology phenotype",
+ "kidney physiology phenotype",
+ "trunk region element physiology phenotype",
+ "increased level of monosaccharide in urine",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "increased urine role level",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "role urine level phenotype",
+ "organism subdivision, curved phenotype",
+ "hindlimb zeugopod phenotype",
+ "shape hindlimb zeugopod",
"long bone phenotype",
- "decreased length of metapodium bone 1",
+ "limb morphology phenotype",
+ "hydrogen molecular entity",
+ "endochondral bone phenotype",
+ "bone of appendage girdle complex phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "aldohexose",
+ "zone of organ",
+ "organism subdivision",
+ "renal system phenotype",
+ "organic molecule",
+ "anatomical system physiology phenotype",
+ "growth",
+ "delayed growth",
+ "molecule",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "material anatomical entity phenotype",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "homeostatic process phenotype",
+ "kidney phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "hematopoietic system phenotype",
+ "Abnormal limb bone morphology",
+ "blood chemical entity level phenotype",
+ "increased level of chemical entity in blood",
+ "taxon specific phenotype",
+ "phosphate level phenotype",
+ "hindlimb",
+ "increased level of chemical entity in blood serum",
+ "urine",
+ "increased level of creatinine in blood serum",
+ "Azotemia",
+ "imidazolidinone",
+ "independent continuant",
"appendage girdle complex",
- "Aplasia/hypoplasia involving forearm bones",
- "white matter of forebrain phenotype",
- "Abnormality of limb bone",
- "fused skeletal joint and skeletal joint",
- "decreased size of the mesoderm-derived structure",
- "absent anatomical structure",
- "Abnormal forearm morphology",
- "vertebral column",
- "zeugopodial skeleton",
- "quality",
+ "lower limb segment, curved phenotype",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "organic molecular entity",
+ "monocyclic compound",
"size of anatomical entity phenotype",
- "gland of diencephalon",
- "Abnormality of head or neck",
- "cell-cell signaling",
- "vestibulo-auditory system",
- "Abnormal endocrine morphology",
- "long bone morphology phenotype",
- "decreased length of phalanx endochondral element",
- "metencephalon",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "metapodial skeleton phenotype",
- "skin of body morphology phenotype",
- "paired limb/fin skeleton phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "long bone",
+ "blood creatinine level phenotype",
+ "phenotype",
+ "bone of appendage girdle complex",
+ "increased blood role level",
+ "leg",
+ "body proper",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "organooxygen compound",
+ "heteroorganic entity",
+ "genitourinary system",
+ "blood organic molecular entity level phenotype",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "growth phenotype",
+ "shape anatomical entity",
+ "nitrogen molecular entity",
+ "Abnormal circulating organic compound concentration",
+ "Metabolic acidosis",
+ "oxoacid",
+ "delayed biological_process",
+ "limb skeleton subdivision",
+ "organic heteromonocyclic compound",
+ "metabolic process",
+ "Abnormality of the urinary system physiology",
+ "zeugopod, curved phenotype",
+ "lactam",
+ "material anatomical entity",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "blood serum chemical entity level phenotype",
+ "anatomical system",
+ "organic cyclic compound",
+ "Abnormal bone structure",
+ "trunk",
+ "role blood serum level phenotype",
+ "limb",
+ "chemical entity",
+ "abdominal segment element",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "Acidosis",
+ "material entity",
+ "shape long bone",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "abdomen element physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "imidazolidines",
+ "paired limb/fin segment phenotype",
+ "process",
+ "role bodily fluid level phenotype",
+ "blood plasma chemical entity level phenotype",
+ "curved hindlimb zeugopod",
+ "blood serum",
+ "posterior region of body",
+ "multicellular anatomical structure",
+ "lateral structure phenotype",
+ "role blood level phenotype",
+ "multicellular organism chemical entity level phenotype",
+ "carboxamide",
+ "endochondral element",
+ "organism subdivision phenotype",
+ "carbohydrate",
+ "increased bodily fluid role level",
+ "biological_process",
+ "anatomical structure",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "Bowing of the long bones",
+ "limb endochondral element phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "s-block molecular entity",
+ "increased level of chemical entity in blood plasma",
+ "Elevated circulating creatinine concentration",
+ "bone element mass density phenotype",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "specifically dependent continuant",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "organism substance",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "anatomical entity physiology phenotype",
+ "zone of bone organ",
+ "limb bone phenotype",
+ "multicellular organism phenotype",
+ "heteromonocyclic compound",
+ "haemolymphatic fluid",
+ "Abnormal circulating creatinine concentration",
+ "increased level of chemical entity",
+ "Abnormal urinary electrolyte concentration",
+ "mesoderm-derived structure",
+ "Abnormality of acid-base homeostasis",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
"appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "decreased length of bone of pectoral complex",
- "Aplasia involving bones of the extremities",
- "absent limb bone",
- "lower urinary tract",
- "outflow tract",
- "organ part atresia",
- "individual digit of digitopodial skeleton",
- "anatomical entity atresia",
- "myeloid cell",
- "autopod region",
- "limb phenotype",
+ "homeostatic process",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "Abnormality of metabolism/homeostasis",
+ "increased level of chemical entity in bodily fluid",
+ "increased level of chemical entity in urine",
+ "phosphate",
+ "organonitrogen heterocyclic compound",
+ "p-block molecular entity",
+ "Elevated urinary carboxylic acid",
+ "skeleton",
+ "multicellular organism",
+ "hematopoietic system",
+ "Bowing of the legs",
+ "Abnormality of the skeletal system",
+ "appendicular skeleton",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "cavitated compound organ",
+ "subdivision of organism along appendicular axis phenotype",
+ "cyclic amide",
+ "shape of continuant phenotype",
+ "paired limb/fin segment",
+ "bodily fluid",
+ "polyatomic entity",
+ "main group molecular entity",
+ "increased level of nitrogen molecular entity in blood",
+ "blood plasma",
+ "increased level of creatinine in blood",
+ "creatinine",
+ "Abnormal circulating nitrogen compound concentration",
+ "carbon group molecular entity",
+ "increased blood serum role level",
+ "protein polypeptide chain",
+ "continuant",
+ "organic heterocyclic compound",
+ "limb segment phenotype",
+ "compound organ",
+ "phosphorus oxoacids and derivatives",
+ "quality",
+ "phosphoric acid derivative",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of limbs",
+ "phosphorus molecular entity",
+ "paired limb/fin phenotype",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "oxoacid derivative",
+ "renal system physiology phenotype",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "leg phenotype",
+ "renal system",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "Decreased anatomical entity mass density",
+ "endochondral element phenotype",
+ "anatomical entity mass density phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "heterocyclic compound",
+ "skeletal system",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal morphology",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "organ",
+ "curved long bone",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "Rickets",
+ "multicellular organismal process",
+ "organ part",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "multicellular anatomical structure phenotype",
+ "skeletal element",
+ "zeugopod",
+ "musculature of body",
+ "skeletal element phenotype",
+ "lower limb segment",
+ "trunk region element phenotype",
+ "limb segment, curved phenotype",
+ "diazolidine",
+ "Reduced bone mineral density",
+ "skeletal system morphology phenotype",
+ "abdominal segment of trunk",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "blood nitrogen molecular entity level phenotype",
"Abnormal appendicular skeleton morphology",
- "anatomical entity length phenotype",
- "negative regulation of metabolic process phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "anucleate cell",
- "Vesicoureteral reflux",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "absent limb bone in the forelimb",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "limb endochondral element",
+ "lateral structure physiology phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "paired limb/fin",
+ "skeletal system phenotype",
+ "curved anatomical entity",
+ "lateral structure",
"subdivision of skeleton",
- "paired limb/fin phenotype",
- "Functional abnormality of the bladder",
- "decreased number of anatomical structure",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "forelimb endochondral element",
- "tube",
- "interatrial septum morphology phenotype",
- "subdivision of tube phenotype",
- "Intestinal atresia",
+ "endochondral bone",
+ "increased level of protein polypeptide chain in urine",
+ "limb segment",
+ "zone of long bone",
+ "pelvic appendage",
+ "Abnormality of the lower limb",
+ "heteroatomic molecular entity",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Organic aciduria",
+ "Abnormal diaphysis morphology",
+ "organ, curved phenotype",
+ "musculoskeletal system",
+ "skeletal element, curved phenotype",
+ "curvature anatomical entity",
"All",
- "formed anatomical structure",
+ "anatomical collection",
+ "Growth delay",
+ "diaphysis",
+ "skeleton of limb",
"limb bone",
- "camera-type eye phenotype",
- "Decreased head circumference",
- "pectoral appendage skeleton",
- "absent mesoderm-derived structure in the forelimb",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
"Abnormal long bone morphology",
- "bone of pectoral complex morphology phenotype",
+ "hindlimb zeugopod",
+ "zeugopod phenotype",
+ "bone element, curved phenotype",
+ "multi-limb segment region",
"appendage phenotype",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "central nervous system cell part cluster",
- "ventricle of nervous system phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the pituitary gland",
- "Abnormal upper limb bone morphology",
- "brain white matter morphology phenotype",
- "independent continuant",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "decreased size of the skeletal element",
- "absent long bone",
- "pituitary gland",
- "irregular bone phenotype",
- "alimentary part of gastrointestinal system atresia",
- "decreased length of anatomical entity",
- "fused cervical vertebra and anatomical entity",
- "upper limb segment",
- "limb segment phenotype",
- "absent ectoderm-derived structure",
- "forelimb zeugopod phenotype",
- "vestibulo-auditory system phenotype",
- "gland physiology phenotype",
- "bone of pectoral complex",
- "forelimb zeugopod skeleton",
- "secretion by cell",
- "forelimb",
- "aplasia or hypoplasia of radius bone",
- "artery phenotype",
- "Abnormal metencephalon morphology",
- "paired limb/fin segment phenotype",
- "lamina",
- "compound organ",
- "cervical vertebra",
- "cerebral hemisphere gray matter",
- "forebrain phenotype",
- "absent material anatomical entity in the brain ventricle/choroid plexus",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "biological regulation",
- "mesoderm-derived structure physiology phenotype",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "Upper limb undergrowth",
- "duodenum morphology phenotype",
- "limb segment",
- "absent brain commissure",
- "decreased number of leukocyte",
- "tissue",
- "disconnected anatomical group",
- "endocrine gland morphology phenotype",
- "signaling",
- "subdivision of skeletal system",
- "gland phenotype",
- "Abnormal limb bone morphology",
- "absent bone of appendage girdle complex",
- "forelimb phenotype",
- "taxon specific phenotype",
- "Triangular face",
- "cerebral hemisphere white matter",
- "Abnormal cellular immune system morphology",
- "ear",
- "arm bone",
- "incomplete closing of the interatrial septum",
- "anatomical entity morphology in the brain phenotype",
- "autopodial extension phenotype",
- "interatrial septum perforation",
- "simple eye phenotype",
- "blood cell phenotype",
- "absent radius endochondral element in the forelimb",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "metencephalon morphology phenotype",
- "cardiac chamber phenotype",
- "photoreceptor array phenotype",
- "decreased length of limb endochondral element",
- "sensory perception of sound",
- "intestine morphology phenotype",
- "cardiac atrium phenotype",
- "cranial nerve II phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "mesoderm-derived structure",
- "Absent forearm bone",
- "anatomical system",
- "anatomical structure morphology in the heart phenotype",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
+ "hindlimb zeugopod morphology phenotype",
+ "cyclic compound",
+ "multi-limb segment region phenotype",
+ "chemical entity level phenotype",
+ "amide",
+ "Abnormality of limb bone",
+ "Proteinuria",
+ "protein-containing material entity",
+ "material anatomical entity, curved phenotype",
+ "pelvic complex",
+ "excretory system",
+ "long bone morphology phenotype",
+ "organ phenotype",
+ "lower limb segment phenotype",
+ "decreased size of the anatomical entity",
+ "blood",
+ "paired limb/fin segment, curved phenotype",
+ "primary amide",
+ "limb bone morphology phenotype",
+ "system",
+ "appendicular skeletal system",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ ],
+ },
+ {
+ "id": "MONDO:0013247",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 2",
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0080758", "GARD:15655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"],
+ "synonym": [
+ "FRTS2",
+ "Fanconi renotubular syndrome 2",
+ "Fanconi renotubular syndrome type 2",
+ "Fanconi syndrome caused by mutation in SLC34A1",
+ "SLC34A1 Fanconi syndrome",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0000117",
+ "HP:0002148",
+ "HP:0000114",
+ "HP:0002757",
+ "HP:0002748",
+ "HP:0000938",
+ "HP:0002909",
+ "HP:0031415",
+ "HP:0000093",
+ "HP:0003076",
+ "HP:0003165",
+ "HP:0004322",
+ "HP:0002653",
+ "HP:0012213",
+ "HP:0002150",
+ "HP:0000083",
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Renal phosphate wasting",
+ "Hypophosphatemia",
+ "Proximal tubulopathy",
+ "Recurrent fractures",
+ "Rickets",
+ "Osteopenia",
+ "Generalized aminoaciduria",
+ "High serum calcitriol",
+ "Proteinuria",
+ "Glycosuria",
+ "Elevated circulating parathyroid hormone level",
+ "Short stature",
+ "Bone pain",
+ "Decreased glomerular filtration rate",
+ "Hypercalciuria",
+ "Renal insufficiency",
+ ],
+ "has_phenotype_count": 17,
+ "has_phenotype_closure": [
+ "HP:0002150",
+ "HP:0011280",
+ "UPHENO:0046344",
+ "CHEBI:33559",
+ "UPHENO:0068134",
+ "HP:0025142",
+ "HP:0012531",
+ "UPHENO:0075195",
+ "UPHENO:0069327",
+ "GO:0040007",
+ "HP:0001510",
+ "UPHENO:0081424",
+ "UPHENO:0069254",
+ "UPHENO:0002949",
+ "UPHENO:0069266",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UPHENO:0075159",
+ "HP:0000818",
+ "UPHENO:0068068",
+ "UPHENO:0051648",
+ "HP:0002152",
+ "UPHENO:0068971",
+ "CHEBI:33695",
+ "PR:000064867",
+ "UBERON:0000949",
+ "HP:0004360",
+ "UPHENO:0068442",
+ "UPHENO:0051612",
+ "UPHENO:0082943",
+ "HP:0430071",
+ "UPHENO:0068472",
+ "PR:000018263",
+ "CHEBI:33694",
+ "UPHENO:0068477",
+ "UBERON:0001969",
+ "HP:0012337",
+ "UBERON:0034923",
+ "HP:0100530",
+ "UBERON:0015204",
+ "UPHENO:0082536",
+ "HP:0001948",
+ "CHEBI:33917",
+ "HP:6000531",
+ "UPHENO:0068054",
+ "HP:0010876",
+ "CHEBI:35381",
+ "UPHENO:0080658",
+ "HP:0000093",
+ "CHEBI:16541",
+ "UPHENO:0068565",
+ "CHEBI:16670",
+ "CHEBI:15841",
+ "UPHENO:0079534",
+ "UPHENO:0068047",
+ "UPHENO:0069062",
+ "UPHENO:0049627",
+ "GO:0008202",
+ "PR:000013429",
+ "HP:0100508",
+ "UPHENO:0049873",
+ "CHEBI:33822",
+ "CHEBI:33832",
+ "GO:1901615",
+ "GO:1901360",
+ "UPHENO:0082539",
+ "CHEBI:37622",
+ "GO:0006775",
+ "UPHENO:0077817",
+ "GO:0071704",
+ "UPHENO:0076293",
+ "UPHENO:0068251",
+ "UPHENO:0048763",
+ "CHEBI:73558",
+ "HP:0004364",
+ "UPHENO:0078589",
+ "UPHENO:0078628",
+ "UPHENO:0046362",
+ "UPHENO:0046291",
+ "CHEBI:17823",
+ "UPHENO:0000543",
+ "HP:0003076",
+ "CHEBI:27300",
+ "CHEBI:35788",
+ "UPHENO:0048711",
+ "UPHENO:0081547",
+ "UPHENO:0050502",
+ "CHEBI:18059",
+ "CHEBI:26191",
+ "UPHENO:0089759",
+ "CHEBI:35350",
+ "UPHENO:0066939",
+ "HP:0002653",
+ "UPHENO:0076703",
+ "HP:0012213",
+ "PR:000050567",
+ "BFO:0000003",
+ "UPHENO:0049618",
+ "CHEBI:33259",
+ "UPHENO:0051960",
+ "UPHENO:0004459",
+ "UPHENO:0080351",
+ "UPHENO:0076286",
+ "UPHENO:0080352",
+ "UBERON:0000179",
+ "CHEBI:27136",
+ "BFO:0000004",
+ "UBERON:0000064",
+ "HP:0002148",
+ "UPHENO:0051630",
+ "UPHENO:0034253",
+ "UBERON:0000468",
+ "UBERON:0002417",
+ "CHEBI:78616",
+ "HP:0000077",
+ "HP:0033331",
+ "UBERON:0006555",
+ "HP:0100529",
+ "UPHENO:0002963",
+ "UPHENO:0005201",
+ "CHEBI:35352",
+ "UPHENO:0051686",
+ "CHEBI:33579",
+ "CHEBI:36357",
+ "GO:0008152",
+ "UPHENO:0051712",
+ "CHEBI:33595",
+ "UPHENO:0049587",
+ "CHEBI:33675",
+ "UPHENO:0002246",
+ "CHEBI:33318",
+ "HP:0003111",
+ "CHEBI:24431",
+ "HP:0001507",
+ "CHEBI:37577",
+ "HP:0000079",
+ "HP:0020129",
+ "UPHENO:0046348",
+ "UPHENO:0066927",
+ "CHEBI:15693",
+ "UPHENO:0081544",
+ "UPHENO:0002442",
+ "PATO:0000001",
+ "UPHENO:0002731",
+ "UBERON:8450002",
+ "UPHENO:0068169",
+ "HP:0032369",
+ "CHEBI:33302",
+ "UPHENO:0002269",
+ "CHEBI:23367",
+ "CHEBI:24867",
+ "CHEBI:33256",
+ "UBERON:0000025",
+ "UPHENO:3000004",
+ "UPHENO:0077826",
+ "UPHENO:0002427",
+ "HP:0001939",
+ "CHEBI:26082",
+ "HP:0011277",
+ "UPHENO:0068491",
+ "CHEBI:36360",
+ "BFO:0000020",
+ "UPHENO:0066964",
+ "UPHENO:0002559",
+ "UPHENO:0049904",
+ "GO:0006766",
+ "UBERON:0000178",
+ "HP:0000118",
+ "UBERON:0001434",
+ "UPHENO:0002636",
+ "UPHENO:0066739",
+ "UPHENO:0075902",
+ "UPHENO:0050116",
+ "UPHENO:0002525",
+ "UPHENO:0002870",
+ "HP:0032180",
+ "UPHENO:0002964",
+ "HP:0000119",
+ "UPHENO:0001003",
+ "UBERON:0002193",
+ "UPHENO:0002422",
+ "CHEBI:33241",
+ "UPHENO:0002526",
+ "CHEBI:33635",
+ "UBERON:0000061",
+ "CHEBI:36359",
+ "HP:0003110",
+ "UBERON:0001231",
+ "UPHENO:0089764",
+ "BFO:0000002",
+ "UPHENO:0084653",
+ "CHEBI:36080",
+ "UBERON:0006314",
+ "HP:0000114",
+ "HP:0004349",
+ "GO:0042359",
+ "UPHENO:0082834",
+ "HP:0033405",
+ "BFO:0000040",
+ "UBERON:0013702",
+ "CHEBI:33304",
+ "PR:000000001",
+ "UPHENO:0002976",
+ "UPHENO:0051900",
+ "UPHENO:0051739",
+ "UBERON:0004120",
+ "CHEBI:35341",
+ "UPHENO:0002554",
+ "BFO:0000001",
+ "UPHENO:0066954",
+ "HP:0003330",
+ "GO:0044238",
+ "UPHENO:0001001",
+ "UPHENO:0084654",
+ "UPHENO:0034351",
+ "UPHENO:0002252",
+ "UPHENO:0080643",
+ "UBERON:0011216",
+ "UPHENO:0005092",
+ "UBERON:0001062",
+ "HP:0000924",
+ "UBERON:0000174",
+ "GO:0001503",
+ "UBERON:0000062",
+ "CHEBI:32988",
+ "UPHENO:0081581",
+ "HP:0000001",
+ "UBERON:0004111",
+ "HP:0012599",
+ "HP:0011842",
+ "HP:0033127",
+ "UPHENO:0051763",
+ "CHEBI:22313",
+ "CHEBI:51958",
+ "GO:0008150",
+ "UPHENO:0066960",
+ "UPHENO:0005285",
+ "UPHENO:0068064",
+ "CHEBI:72695",
+ "UPHENO:0051628",
+ "UPHENO:0002530",
+ "GO:0006629",
+ "UBERON:0001015",
+ "UPHENO:0003088",
+ "BFO:0000015",
+ "HP:0001871",
+ "UBERON:0003103",
+ "UPHENO:0068110",
+ "UPHENO:0002536",
+ "UPHENO:0076692",
+ "CHEBI:36963",
+ "GO:0042592",
+ "UBERON:0000489",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "UPHENO:0003116",
+ "UPHENO:0051804",
+ "CHEBI:33250",
+ "UBERON:0002113",
+ "HP:0000117",
+ "HP:0012212",
+ "UBERON:0001977",
+ "UPHENO:0051635",
+ "UBERON:0000383",
+ "HP:0000083",
+ "GO:0032501",
+ "HP:0100511",
+ "UPHENO:0001002",
+ "CHEBI:33238",
+ "HP:0010935",
+ "UPHENO:0002287",
+ "UBERON:0004122",
+ "UPHENO:0002859",
+ "UPHENO:0005141",
+ "CHEBI:33839",
+ "CHEBI:26079",
+ "HP:0031415",
+ "UPHENO:0004791",
+ "HP:0011849",
+ "UPHENO:0048707",
+ "UPHENO:0082534",
+ "HP:0002749",
+ "UPHENO:0002668",
+ "UPHENO:0082835",
+ "GO:0044281",
+ "UBERON:0001088",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "UBERON:0004211",
+ "UPHENO:0002564",
+ "UBERON:0007684",
+ "UBERON:0009773",
+ "UPHENO:0052038",
+ "UPHENO:0066951",
+ "UBERON:0005172",
+ "UPHENO:0002909",
+ "CHEBI:16646",
+ "HP:0000124",
+ "UBERON:0000483",
+ "UPHENO:0068533",
+ "CHEBI:47042",
+ "UBERON:0005173",
+ "UPHENO:0066950",
+ "UPHENO:0066903",
+ "UBERON:0005177",
+ "UPHENO:0002210",
+ "HP:0012211",
+ "UPHENO:0076285",
+ "UBERON:0015212",
+ "UPHENO:0002411",
+ "HP:0004348",
+ "UPHENO:0002311",
+ "UPHENO:0002308",
+ "UPHENO:0003093",
+ "UBERON:0011676",
+ "UBERON:0009569",
+ "CHEBI:24651",
+ "HP:0003117",
+ "UBERON:0002390",
+ "UPHENO:0051709",
+ "UBERON:0010000",
+ "HP:0001992",
+ "UPHENO:0066943",
+ "UPHENO:0082875",
+ "UBERON:0002100",
+ "UBERON:0001474",
+ "UPHENO:0003430",
+ "CHEBI:18133",
+ "HP:0025745",
+ "UPHENO:0002360",
+ "UPHENO:0024906",
+ "CHEBI:17234",
+ "UPHENO:0066946",
+ "CHEBI:24870",
+ "UPHENO:0003941",
+ "UPHENO:0002377",
+ "UPHENO:0002754",
+ "CHEBI:36853",
+ "UBERON:0004819",
+ "UPHENO:0003094",
+ "HP:0012591",
+ "UPHENO:0066925",
+ "UPHENO:0002816",
+ "UBERON:0011143",
+ "UPHENO:0002248",
+ "UPHENO:0089294",
+ "CHEBI:36587",
+ "UBERON:0000916",
+ "UPHENO:0002386",
+ "UBERON:0000479",
+ "UPHENO:0066959",
+ "UPHENO:0066913",
+ "UBERON:0000475",
+ "HP:0003165",
+ "UBERON:0013701",
+ "UBERON:0001285",
+ "UPHENO:0046284",
+ "UPHENO:0002426",
+ "UPHENO:0002346",
+ "UPHENO:0068049",
+ "CHEBI:51143",
+ "UBERON:0002204",
+ "UPHENO:0081440",
+ "HP:0032943",
+ "HP:0032245",
+ "HP:0002757",
+ "UPHENO:0002385",
+ "HP:0002659",
+ "HP:0011843",
+ "UPHENO:0002832",
+ "UPHENO:0002803",
+ "HP:0002748",
+ "HP:0000938",
+ "HP:0012072",
+ "UPHENO:0046281",
+ "CHEBI:25806",
+ "CHEBI:33521",
+ "UPHENO:0082541",
+ "CHEBI:36586",
+ "CHEBI:35605",
+ "CHEBI:33709",
+ "CHEBI:33285",
+ "CHEBI:25367",
+ "UPHENO:0002267",
+ "UBERON:0003914",
+ "CHEBI:64709",
+ "CHEBI:33608",
+ "UPHENO:0046286",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "CHEBI:33575",
+ "CHEBI:50047",
+ "HP:0031980",
+ "HP:0000002",
+ "HP:0002157",
+ "UPHENO:0066921",
+ "HP:0033354",
+ "UPHENO:0049723",
+ "UPHENO:0046383",
+ "CHEBI:22984",
+ "CHEBI:26020",
+ "UBERON:0000463",
+ "HP:0040156",
+ "UPHENO:0081423",
+ "UBERON:0015203",
+ "UPHENO:0002642",
+ "HP:0002909",
+ "UPHENO:0068144",
+ "CHEBI:33674",
+ "UBERON:0001008",
+ "CHEBI:24833",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "HP:0003355",
+ ],
+ "has_phenotype_closure_label": [
+ "Renal insufficiency",
+ "alkaline earth metal atom",
+ "Abnormality of urine calcium concentration",
+ "increased level of calcium atom in urine",
+ "calcium atom level phenotype",
+ "metal atom",
+ "Hypercalciuria",
+ "s-block element atom",
+ "Abnormal glomerular filtration rate",
+ "Pain",
+ "atom",
+ "anatomical entity height phenotype",
+ "multicellular organism height phenotype",
"decreased size of the anatomical structure",
- "circulatory system phenotype",
- "decreased size of the autopod bone",
- "musculature phenotype",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Short long bone",
- "camera-type eye morphology phenotype",
- "Patent foramen ovale",
- "fused cervical vertebra and cervical vertebra",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the anatomical structure in the pectoral complex",
- "decreased size of the arm bone",
+ "growth",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "protein",
+ "Elevated circulating parathyroid hormone level",
+ "Abnormality of the endocrine system",
+ "blood nitrogen molecular entity level phenotype",
+ "Abnormality of acid-base homeostasis",
+ "increased level of protein",
+ "Abnormal circulating organic amino compound concentration",
+ "blood organic amino compound level phenotype",
+ "increased level of chemical entity in blood serum",
+ "protein level phenotype",
+ "increased level of protein in blood",
+ "Alkalosis",
+ "Azotemia",
+ "parathyroid hormone",
+ "Hyperproteinemia",
+ "Acute phase response",
+ "Abnormal circulating nitrogen compound concentration",
+ "non-connected functional system",
+ "Short stature",
"endocrine system",
- "systemic artery morphology phenotype",
- "Abnormal granulocyte morphology",
- "material anatomical entity atresia",
- "material entity",
- "leukocyte",
- "decreased functionality of the endoderm-derived structure",
- "endoderm-derived structure atresia",
- "external acoustic meatus",
- "subdivision of trunk phenotype",
- "retina",
- "decreased length of bone of appendage girdle complex",
- "decreased size of the bone of free limb or fin",
- "absent forelimb long bone in the forelimb",
- "regional part of nervous system phenotype",
+ "blood serum",
+ "disconnected anatomical group",
+ "blood plasma",
+ "increased level of nitrogen molecular entity in blood",
+ "blood protein polypeptide chain level phenotype",
+ "endocrine system phenotype",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "macromolecule",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "vitamin D metabolic process",
+ "small molecule metabolic process",
+ "glandular system",
+ "primary metabolic process",
+ "increased level of lipid in blood",
+ "blood plasma chemical entity level phenotype",
+ "role bodily fluid level phenotype",
+ "main group element atom",
+ "hormone blood level phenotype",
+ "increased level of chemical entity in blood",
+ "decreased height of the multicellular organism",
+ "organic hydroxy compound metabolic process phenotype",
+ "primary metabolic process phenotype",
+ "small molecule metabolic process phenotype",
+ "blood organic molecular entity level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organic hydroxy compound",
+ "polycyclic compound",
+ "increased blood role level",
+ "calcitriol",
+ "vitamin D",
+ "polyol",
+ "steroid metabolic process phenotype",
+ "steroid metabolic process",
+ "increased level of calcitriol in blood",
+ "growth phenotype",
+ "blood lipid level phenotype",
+ "vitamin metabolic process",
+ "increased level of lipid",
+ "organic hydroxy compound metabolic process",
+ "lipid metabolic process",
+ "triol",
+ "cyclic compound",
+ "steroid",
+ "lipid level phenotype",
+ "Abnormality of vitamin metabolism",
+ "organism substance",
+ "decreased level of chemical entity in blood",
+ "blood monoatomic ion level phenotype",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "primary amide",
+ "elemental molecular entity",
+ "blood chemical entity level phenotype",
+ "hydroxy seco-steroid",
+ "hematopoietic system phenotype",
+ "monoatomic entity",
"subdivision of trunk",
- "increased biological_process",
- "decreased size of the bone of appendage girdle complex",
- "face morphology phenotype",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "Anemia",
- "absent multicellular anatomical structure in the forelimb",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
- "main body axis",
- "musculature",
- "Abnormal facial shape",
- "viscus",
- "external ear",
- "circulatory organ phenotype",
- "decreased size of the endochondral bone",
- "musculature of body phenotype",
- "anatomical conduit phenotype",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "cerebellum",
- "manual digit metacarpus endochondral element",
+ "decreased functionality of the nephron tubule",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "heteroatomic molecular entity",
"excretory system",
- "cardiac chamber",
- "number of anatomical enitites of type neutrophil phenotype",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "decreased length of skeletal element",
- "decreased vibrational conductance of sound to the inner ear",
- "pelvic region element phenotype",
- "camera-type eye physiology phenotype",
- "subdivision of organism along main body axis",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of tube atresia",
- "structure with developmental contribution from neural crest phenotype",
- "decreased length of anatomical structure",
- "absent forelimb bone in the limb",
- "cerebral hemisphere white matter morphology phenotype",
- "viscus phenotype",
- "Abnormality of the outer ear",
- "orbital region phenotype",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "metapodial skeleton",
- "musculoskeletal system physiology phenotype",
- "anatomical entity perforation",
- "decreased qualitatively embryo development",
- "closing of the material anatomical entity",
- "Abnormality of globe size",
- "absent anatomical structure in the skeletal system",
- "decreased size of the forelimb endochondral element",
- "decreased size of the gland",
- "signal release",
+ "vitamin metabolic process phenotype",
+ "abdomen element phenotype",
+ "organic cyclic compound metabolic process",
+ "ion",
+ "biomacromolecule",
+ "p-block molecular entity",
+ "renal system physiology phenotype",
+ "pnictogen molecular entity",
+ "role blood serum level phenotype",
+ "trunk",
+ "chemical entity",
+ "amide",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "Abnormal urine amino acid level",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "Abnormality of the skeletal system",
+ "amino acid level phenotype",
+ "hydroxycalciol",
+ "Abnormality of the urinary system physiology",
+ "renal system phenotype",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "organic molecule",
+ "trunk region element physiology phenotype",
+ "homeostatic process phenotype",
+ "main group molecular entity",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "polyatomic entity",
+ "decreased size of the anatomical entity",
+ "blood",
+ "mesoderm-derived structure",
+ "Abnormal urinary electrolyte concentration",
+ "phosphate level phenotype",
+ "Alkalemia",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate",
+ "lipid metabolic process phenotype",
+ "bone element mass density phenotype",
+ "amino acid",
+ "molecule",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "skeletal system phenotype",
+ "protein polypeptide chain",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "Increased susceptibility to fractures",
+ "skeletal element",
+ "cavitated compound organ",
"anatomical structure",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "absent bone element in the limb",
- "digitopodium region",
- "nitrogen compound transport phenotype",
+ "Decreased glomerular filtration rate",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "musculoskeletal system phenotype",
+ "increased level of organic acid in urine",
+ "musculature of body",
+ "organic cyclic compound",
+ "Abnormal bone structure",
+ "blood serum chemical entity level phenotype",
+ "anatomical system",
+ "lipid",
+ "material anatomical entity",
+ "Abnormal circulating protein concentration",
+ "increased level of parathyroid hormone in blood serum",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormality of the musculoskeletal system",
+ "renal/urinary system phenotype",
"anatomical entity",
- "interatrial septum",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "phosphoric acid derivative",
+ "quality",
+ "carbon oxoacid",
+ "Reduced bone mineral density",
+ "increased level of parathyroid hormone in blood",
+ "hydroxy steroid",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "epithelial tube physiology phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "hematopoietic system",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "protein-containing molecular entity",
+ "increased level of vitamin D",
+ "tissue phenotype",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "urine calcium atom level phenotype",
+ "process",
+ "size of anatomical entity phenotype",
"phenotypic effect",
- "Vertebral fusion",
- "number of myeloid cell phenotype",
- "postcranial axial skeleton phenotype",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "number of anatomical enitites of type bone element phenotype",
- "export from cell phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "number of anatomical enitites of type brain commissure phenotype",
- "pectoral appendage",
- "bone element",
- "camera-type eye",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "Abnormal ear physiology",
- "Limb undergrowth",
- "decreased number of neutrophil",
- "biological_process rate phenotype",
- "fused anatomical entity and bony vertebral centrum",
+ "organ physiology phenotype",
+ "main body axis",
+ "Abnormality of blood and blood-forming tissues",
+ "molecular entity",
+ "anatomical conduit phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "carboxamide",
+ "Generalized aminoaciduria",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Osteopenia",
+ "Renal phosphate wasting",
+ "kidney physiology phenotype",
+ "increased blood serum base level",
+ "multicellular organismal process",
+ "organ part",
+ "multicellular anatomical structure",
"specifically dependent continuant",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "absent forelimb endochondral element",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "size of eyeball of camera-type eye phenotype",
- "thoracic segment organ",
- "Abnormal digit morphology",
+ "organ",
+ "occurrent",
+ "haemolymphatic fluid",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "carbohydrate",
+ "increased bodily fluid role level",
+ "biological_process",
+ "renal tubule",
+ "material entity",
+ "organic amino compound",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "renal system",
+ "kidney epithelium phenotype",
"phenotype",
- "decreased length of bone element",
- "trunk phenotype",
- "absent endochondral element in the forelimb",
+ "anatomical entity mass density phenotype",
+ "Recurrent fractures",
+ "carbonyl compound",
+ "musculoskeletal system",
+ "fat-soluble vitamin metabolic process",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "organ system subdivision",
+ "Aminoaciduria",
+ "Abnormality of vitamin D metabolism",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "Abnormal circulating calcium-phosphate regulating hormone concentration",
+ "vitamin D metabolic process phenotype",
+ "seco-steroid",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "Abnormal circulating metabolite concentration",
+ "organic acid",
+ "ossification",
+ "calcium atom",
+ "increased blood serum role level",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "information biomacromolecule",
+ "blood parathyroid hormone level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "role blood level phenotype",
+ "lateral structure phenotype",
"decreased functionality of the anatomical entity",
- "Abnormal growth hormone level",
- "absent mesoderm-derived structure in the limb",
- "incomplete closing of the artery",
- "Reduced circulating growth hormone concentration",
- "primary circulatory organ phenotype",
- "anatomical entity morphology in the heart phenotype",
- "ear physiology phenotype",
- "Abnormality of the gastrointestinal tract",
- "Abnormal atrial septum morphology",
- "Ventricular septal defect",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "eyeball of camera-type eye phenotype",
+ "Abnormal metabolism",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
+ "lateral structure",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "blood oxygen molecular entity level phenotype",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "organic molecular entity",
+ "epithelium",
+ "decreased functionality of the tube",
+ "Bone pain",
+ "Abnormality of the upper urinary tract",
+ "tube phenotype",
+ "increased bodily fluid base level",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "decreased size of the material anatomical entity",
+ "biological_process phenotype",
+ "abdominal segment element phenotype",
+ "Constitutional symptom",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "Abnormal circulating hormone concentration",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal skeletal morphology",
+ "musculoskeletal system physiology phenotype",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "epithelial tube",
+ "tube",
+ "abdominal segment of trunk",
+ "urine amino acid level phenotype",
+ "abdomen",
+ "decreased level of chemical entity",
+ "Abnormal urine carboxylic acid level",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
+ "excretory tube",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "Abnormal musculoskeletal physiology",
+ "anatomical entity dysfunction in independent continuant",
+ "Proximal tubulopathy",
+ "organism subdivision",
+ "D3 vitamins",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "upper urinary tract phenotype",
+ "excretory tube phenotype",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "kidney",
+ "hemolymphoid system",
+ "Rickets",
+ "role urine level phenotype",
+ "carboxylic acid",
+ "decreased functionality of the epithelial tube",
+ "bone element phenotype",
+ "Abnormal urine pH",
+ "organic substance metabolic process",
+ "High serum calcitriol",
+ "increased level of chemical entity",
+ "increased urine role level",
+ "hydroxides",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "heteroorganic entity",
+ "organooxygen compound",
+ "Abnormal urine phosphate concentration",
+ "increased level of carboxylic acid in urine",
+ "excreta",
+ "organic oxo compound",
+ "multicellular organism morphology phenotype",
+ "Abnormal urine metabolite level",
+ "nitrogen molecular entity",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "carbon group molecular entity",
+ "organic polycyclic compound",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "Organic aciduria",
+ "Elevated urinary carboxylic acid",
+ "metabolic process phenotype",
+ "compound organ phenotype",
+ "increased level of amino acid in urine",
+ "increased level of chemical entity in urine",
+ "vitamin D level phenotype",
+ "increased level of chemical entity in bodily fluid",
+ "increased level of chemical entity in blood plasma",
+ "s-block molecular entity",
+ ],
+ },
+ {
+ "id": "MONDO:0024525",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 1",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "synonym": [
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0001942",
+ "HP:0003648",
+ "HP:0003155",
+ "HP:0002148",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0002900",
+ "HP:0002748",
+ "HP:0034359",
+ "HP:0003076",
+ "HP:0000083",
+ "HP:0003355",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Metabolic acidosis",
+ "Lacticaciduria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Hypokalemia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ ],
+ "has_phenotype_count": 16,
+ "has_phenotype_closure": [
+ "UPHENO:0002359",
+ "HP:0003011",
+ "UPHENO:0080555",
+ "HP:0001324",
+ "HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:37622",
+ "UPHENO:0068565",
+ "CHEBI:16670",
+ "CHEBI:15841",
+ "UPHENO:0075195",
+ "UPHENO:0069327",
+ "GO:0040007",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0069254",
+ "UPHENO:0002949",
+ "UPHENO:0069266",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UPHENO:0075159",
+ "HP:0003355",
+ "CHEBI:33674",
+ "UPHENO:0046286",
+ "UPHENO:0068144",
+ "UPHENO:0068169",
+ "HP:0031980",
+ "CHEBI:33575",
+ "CHEBI:33709",
+ "CHEBI:33608",
+ "CHEBI:24651",
+ "CHEBI:72695",
+ "CHEBI:35605",
+ "HP:0025745",
+ "CHEBI:18133",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "UPHENO:0068054",
+ "CHEBI:35381",
+ "UPHENO:0080658",
+ "UPHENO:0000543",
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+ "HP:0034359",
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+ "CHEBI:33917",
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+ "UPHENO:0051280",
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+ "CHEBI:60242",
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+ "CHEBI:33521",
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+ "UBERON:0005090",
+ "UBERON:0000468",
+ "UBERON:0002417",
+ "CHEBI:22314",
+ "HP:0004379",
+ "HP:0000079",
+ "CHEBI:50860",
+ "UPHENO:0068971",
+ "CHEBI:33695",
+ "GO:0001503",
+ "CHEBI:36357",
+ "PR:000018263",
+ "HP:0012379",
+ "BFO:0000020",
+ "UPHENO:0068491",
+ "CHEBI:36360",
+ "UPHENO:0066964",
+ "CHEBI:50047",
+ "HP:0012337",
+ "CHEBI:33675",
+ "UPHENO:0003047",
+ "CHEBI:33694",
+ "CHEBI:23367",
+ "PR:000064867",
+ "UBERON:0009773",
+ "HP:6000531",
+ "UPHENO:0068352",
+ "CHEBI:35352",
+ "UPHENO:0002963",
+ "HP:0100529",
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+ "BFO:0000004",
+ "UPHENO:0080352",
+ "UBERON:0000179",
+ "CHEBI:33302",
+ "UPHENO:0002269",
+ "UBERON:8450002",
+ "CHEBI:60911",
+ "CHEBI:32988",
+ "UPHENO:0081581",
+ "HP:0000001",
+ "GO:0070293",
+ "UBERON:0004111",
+ "UPHENO:0046383",
+ "HP:0032943",
+ "UPHENO:0002442",
+ "PATO:0000001",
+ "UPHENO:0002731",
+ "UPHENO:0002426",
+ "UPHENO:0046284",
+ "UPHENO:0081423",
+ "UPHENO:0002642",
+ "UPHENO:0075666",
+ "UPHENO:0002411",
+ "UPHENO:3000004",
+ "UPHENO:0002427",
+ "HP:0000119",
+ "UPHENO:0002964",
+ "UBERON:0001088",
+ "HP:0012072",
+ "CHEBI:36587",
+ "UPHENO:0089294",
+ "UBERON:0004120",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0002385",
+ "UPHENO:0049587",
+ "HP:0004360",
+ "CHEBI:51143",
+ "UPHENO:0002346",
+ "HP:0001942",
+ "UPHENO:0068511",
+ "BFO:0000002",
+ "UPHENO:0002559",
+ "UPHENO:0049904",
+ "UBERON:0001434",
+ "UPHENO:0081777",
+ "UPHENO:0002636",
+ "UPHENO:0002525",
+ "UPHENO:0002870",
+ "CHEBI:33285",
+ "UPHENO:0001003",
+ "UPHENO:0080556",
+ "HP:0003155",
+ "HP:0002900",
+ "UPHENO:0076703",
+ "UPHENO:0066939",
+ "UBERON:0002204",
+ "UPHENO:0002526",
+ "UPHENO:0068110",
+ "UBERON:0003103",
+ "UBERON:0001231",
+ "UPHENO:0002320",
+ "UPHENO:0084653",
+ "CHEBI:36080",
+ "UBERON:0006314",
+ "HP:0000118",
+ "UBERON:0000178",
+ "HP:0004349",
+ "UPHENO:0082834",
+ "UPHENO:0003022",
+ "BFO:0000040",
+ "UBERON:0000174",
+ "HP:0000924",
+ "UPHENO:0034199",
+ "PR:000000001",
+ "UPHENO:0002976",
+ "UPHENO:0066954",
+ "HP:0003330",
+ "UPHENO:0001001",
+ "UPHENO:0084654",
+ "UPHENO:0034351",
+ "UPHENO:0002252",
+ "UBERON:0011216",
+ "UBERON:0001062",
+ "UBERON:0000062",
+ "HP:0011842",
+ "UBERON:0001630",
+ "HP:0033127",
+ "CHEBI:33579",
+ "HP:0003110",
+ "CHEBI:36359",
+ "UPHENO:0048707",
+ "UPHENO:0004791",
+ "HP:0011849",
+ "UPHENO:0051763",
+ "GO:0008150",
+ "UPHENO:0066960",
+ "UPHENO:0005285",
+ "UPHENO:0002530",
+ "UBERON:0001015",
+ "UPHENO:0003088",
+ "BFO:0000015",
+ "BFO:0000003",
+ "CHEBI:59999",
+ "PR:000050567",
+ "CHEBI:60004",
+ "UPHENO:0002536",
+ "UPHENO:0076692",
+ "GO:0042592",
+ "CHEBI:33582",
+ "UBERON:0000465",
+ "UBERON:0000489",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "CHEBI:15693",
+ "UPHENO:0081544",
+ "HP:0020129",
+ "UPHENO:0046348",
+ "UPHENO:0066927",
+ "UPHENO:0051635",
+ "UBERON:0000383",
+ "HP:0011804",
+ "HP:0000083",
+ "GO:0032501",
+ "UBERON:0004211",
+ "UPHENO:0001002",
+ "CHEBI:24833",
+ "UBERON:0001008",
+ "CHEBI:33839",
+ "CHEBI:26079",
+ "HP:0002749",
+ "UPHENO:0002668",
+ "UPHENO:0082835",
+ "CHEBI:64709",
+ "UPHENO:0002267",
+ "UBERON:0003914",
+ "HP:0002148",
+ "HP:0032180",
+ "CHEBI:33318",
+ "CHEBI:24431",
+ "HP:0003111",
+ "CHEBI:33241",
+ "BFO:0000001",
+ "UPHENO:0002554",
+ "UBERON:0002193",
+ "UPHENO:0002422",
+ "HP:0040156",
+ "UBERON:0000463",
+ "CHEBI:26020",
+ "HP:0001871",
+ "UPHENO:0004459",
+ "UPHENO:0080351",
+ "UPHENO:0076286",
+ "HP:0003648",
+ "HP:0001941",
+ "UPHENO:0051804",
+ "UPHENO:0051960",
+ "UPHENO:0066739",
+ "UPHENO:0075902",
+ "HP:0001507",
+ "CHEBI:37577",
+ "HP:0001510",
+ "HP:0003109",
+ "HP:0034684",
+ "CHEBI:24867",
+ "CHEBI:33256",
+ "UBERON:0000025",
+ "UPHENO:0051739",
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+ "CHEBI:33238",
+ "CHEBI:33259",
+ "HP:0011277",
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+ "HP:0010935",
+ "UPHENO:0002246",
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+ "UPHENO:0002859",
+ "CHEBI:78616",
+ "HP:0000077",
+ "UPHENO:0002564",
+ "UBERON:0007684",
+ "UPHENO:0066951",
+ "UBERON:0005172",
+ "UPHENO:0002909",
+ "CHEBI:16646",
+ "HP:0000124",
+ "UBERON:0000483",
+ "UBERON:0005173",
+ "UPHENO:0066950",
+ "UPHENO:0066903",
+ "UBERON:0005177",
+ "UPHENO:0002210",
+ "HP:0003126",
+ "HP:0002748",
+ "UPHENO:0002832",
+ "UPHENO:0002803",
+ "CHEBI:33304",
+ "UBERON:0013702",
+ "HP:0010930",
+ "HP:0012211",
+ "UBERON:0015212",
+ "HP:0004348",
+ "UPHENO:0002311",
+ "UPHENO:0002308",
+ "UPHENO:0003093",
+ "UBERON:0011676",
+ "UBERON:0009569",
+ "HP:0000002",
+ "HP:0033354",
+ "UPHENO:0066921",
+ "HP:0001992",
+ "UPHENO:0051709",
+ "UBERON:0010000",
+ "UBERON:0002390",
+ "UPHENO:0066943",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "CHEBI:26216",
+ "UPHENO:0082875",
+ "CHEBI:28358",
+ "UBERON:0002100",
+ "UBERON:0001474",
+ "UPHENO:0003430",
+ "UPHENO:0002360",
+ "UPHENO:0024906",
+ "CHEBI:17234",
+ "UPHENO:0066946",
+ "CHEBI:24870",
+ "UPHENO:0003941",
+ "UPHENO:0002377",
+ "UPHENO:0002754",
+ "UBERON:0004819",
+ "UPHENO:0003094",
+ "HP:0012591",
+ "UPHENO:0066925",
+ "UPHENO:0002816",
+ "UBERON:0011143",
+ "UPHENO:0002248",
+ "UBERON:0000916",
+ "UPHENO:0002386",
+ "PR:000003968",
+ "UBERON:0000479",
+ "UPHENO:0051686",
+ "CHEBI:36915",
+ "UPHENO:0066959",
+ "UPHENO:0066913",
+ "UBERON:0000475",
+ "UBERON:0013701",
+ "UBERON:0001285",
+ "HP:0012599",
+ "UPHENO:0005201",
+ "HP:0010929",
+ "UPHENO:0081547",
+ "UBERON:0002113",
+ "CHEBI:33250",
+ "CHEBI:33559",
+ "UPHENO:0051645",
+ "CHEBI:36914",
+ "UPHENO:0079822",
+ "UBERON:0000061",
+ "CHEBI:36916",
+ ],
+ "has_phenotype_closure_label": [
+ "decreased muscle organ strength",
+ "muscle structure physiology phenotype",
+ "muscle structure phenotype",
+ "Abnormality of the musculature",
+ "muscle organ physiology phenotype",
+ "muscle organ",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "growth",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
"multicellular organism phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "number of cell phenotype",
- "Atrial septal defect",
- "radius endochondral element",
- "septum phenotype",
- "appendicular skeletal system",
- "decreased number of anatomical entity",
- "reproductive structure",
- "Abnormal heart morphology",
- "sense organ phenotype",
- "decreased size of the bone of pectoral complex",
- "organ system subdivision",
- "postcranial axial skeleton",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "multicellular anatomical structure phenotype",
- "head",
- "Abnormal cardiovascular system morphology",
- "shape kidney",
- "decreased size of the limb long bone",
- "cardiac septum phenotype",
- "multi organ part structure phenotype",
- "skeletal element",
- "decreased size of the material anatomical entity in the pectoral complex",
- "Abnormal diencephalon morphology",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "subdivision of head",
- "Abnormality of body weight",
- "developmental process rate phenotype",
- "hormone transport",
- "septum",
- "forelimb long bone phenotype",
- "Abnormal cardiac septum morphology",
- "eye phenotype",
- "organ",
- "regulation of biological quality phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "Duodenal atresia",
- "absent nervous system commissure",
- "digestive system element phenotype",
- "organ part phenotype",
- "absent endochondral element in the limb",
- "segment of manus",
- "Abnormality of thumb phalanx",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "body proper",
- "anatomical entity phenotype",
- "Abnormality of the ureter",
- "organism subdivision phenotype",
- "heart plus pericardium",
- "Abnormal cardiac atrium morphology",
- "Abnormal cellular phenotype",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "Abnormal localization of kidney",
- "arm bone phenotype",
- "head phenotype",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "fused vertebra and anatomical entity",
- "metapodium region",
- "anatomical collection",
- "subdivision of skeletal system phenotype",
- "Abnormality of the bladder",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "continuant",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "compound organ phenotype",
- "organ phenotype",
- "decreased length of forelimb zeugopod bone",
- "heart morphology phenotype",
- "segmental subdivision of nervous system",
- "programmed DNA elimination by chromosome breakage",
- "thoracic cavity element phenotype",
- "craniofacial/craniocervical phenotype",
- "heart",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "anatomical system phenotype",
- "Eukaryota",
- "Abnormality of the digestive system",
- "decreased functionality of the gland",
- "forelimb skeleton phenotype",
- "Abnormality of the thyroid gland",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
"decreased size of the multicellular anatomical structure",
- "structure with developmental contribution from neural crest physiology phenotype",
- "increased pigmentation",
- "Abnormal cell morphology",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "nervous system process phenotype",
- "neck phenotype",
- "opening of the anatomical entity",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "incomplete closing of the cardiac septum",
- "neuron projection bundle phenotype",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ part",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "Abnormality of the immune system",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "Aplasia/Hypoplasia affecting the fundus",
- "absent lamina",
- "regulation of cellular metabolic process",
- "blood cell",
- "septum of telencephalon",
- "cornea, curved phenotype",
- "orbital region",
- "musculoskeletal system",
- "decreased qualitatively sensory perception",
- "agenesis of anatomical entity",
- "circulatory organ",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "Abnormality of neutrophils",
- "trunk region element phenotype",
- "decreased number of hematopoietic cell",
- "organism substance",
- "decreased length of multicellular anatomical structure",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "digit",
- "Abnormal eye physiology",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "white matter of telencephalon phenotype",
- "trunk",
- "Hypothyroidism",
- "hematopoietic system phenotype",
- "metencephalon phenotype",
- "organ component layer phenotype",
- "skeletal system",
- "appendicular skeleton",
- "number of leukocyte phenotype",
- "decreased number of material anatomical entity",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "primary circulatory organ",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Renal insufficiency",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "organooxygen compound",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal absorption",
+ "renal absorption phenotype",
+ "Abnormality of renal excretion",
+ "renal system process",
+ "cation",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "carbon oxoacid",
+ "Abnormal blood potassium concentration",
+ "role bodily fluid level phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "potassium atom level phenotype",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "protein",
+ "macromolecule",
+ "organic molecular entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "heteroatomic molecular entity",
+ "tube phenotype",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "organic amino compound",
+ "material entity",
+ "Abnormality of alkaline phosphatase level",
+ "excretory system",
+ "abdomen element phenotype",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "polyatomic entity",
+ "racemate",
+ "renal system physiology phenotype",
+ "rac-lactic acid",
+ "amide",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "chemical substance",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "renal system phenotype",
+ "metal atom",
+ "Abnormality of the urinary system physiology",
+ "increased level of chemical entity in urine",
+ "increased urine role level",
+ "decreased anatomical entity strength",
+ "mixture",
+ "epithelial tube",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "chemical entity",
+ "Short stature",
+ "inorganic molecular entity",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "increased level of chemical entity",
+ "inorganic cation",
+ "alkali metal atom",
+ "bone element mass density phenotype",
+ "Abnormal blood cation concentration",
"Growth abnormality",
- "Functional abnormality of the middle ear",
- "neutrophil",
- "cell phenotype",
- "ectoderm-derived structure physiology phenotype",
- "Conductive hearing impairment",
- "sensory system",
- "number of anatomical enitites of type granulocyte phenotype",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
+ "anatomical entity morphology phenotype",
+ "Abnormal skeletal morphology",
+ "skeletal system phenotype",
+ "carbon group molecular entity",
+ "main group molecular entity",
+ "Elevated circulating alkaline phosphatase concentration",
+ "protein polypeptide chain",
"system process phenotype",
- "decreased height of the anatomical entity",
- "Abnormal ventricular septum morphology",
- "motile cell",
- "decreased size of the digit",
- "manual digit 1 phalanx endochondral element",
- "eukaryotic cell",
- "cardiac atrium morphology phenotype",
- "bone cell",
- "visual system phenotype",
- "hemolymphoid system",
- "myeloid leukocyte",
- "nucleate cell",
- "endochondral element",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "skeletal element",
+ "cavitated compound organ",
+ "mesoderm-derived structure",
+ "Abnormal urinary electrolyte concentration",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "Abnormal muscle physiology",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "Abnormal enzyme concentration or activity",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
"Abnormality of the musculoskeletal system",
- "Abnormal myeloid cell morphology",
- "Abnormal neutrophil count",
- "number of anatomical enitites of type axon tract phenotype",
- "Neutropenia",
- "zeugopod",
- "white matter of telencephalon",
- "incomplete closing of the anatomical entity",
- "photoreceptor array",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "export from cell",
- "axon tract morphology phenotype",
- "immune system phenotype",
- "gland morphology phenotype",
- "head morphology phenotype",
- "cell",
- "Abnormal musculoskeletal physiology",
- "Abnormal morphology of the radius",
- "decreased number of myeloid cell",
- "entire sense organ system",
- "organ subunit",
- "absent forelimb long bone",
- "retina morphology phenotype",
- "craniocervical region",
- "regulation of cellular process",
+ "musculature of body",
+ "Abnormal bone structure",
+ "anatomical system",
+ "role urine level phenotype",
+ "muscle structure",
+ "material anatomical entity",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "multicellular organismal process phenotype",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "main group element atom",
+ "Abnormal renal tubular resorption",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "Hypokalemia",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "Reduced bone mineral density",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "Abnormality of the skeletal system",
+ "Impaired renal tubular reabsorption of phosphate",
"hematopoietic system",
- "cerebral hemisphere morphology phenotype",
- "material anatomical entity physiology phenotype",
- "Abnormality of refraction",
- "incomplete closing of the multicellular anatomical structure",
- "multi cell part structure phenotype",
- "decreased length of neck",
- "white matter of forebrain",
- "decreased size of the gland of diencephalon",
- "absent material anatomical entity",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "protein-containing molecular entity",
+ "tissue phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "Abnormal circulating enzyme concentration or activity",
+ "organism subdivision",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "process",
+ "bone element",
"mesoderm-derived structure phenotype",
- "pituitary gland morphology phenotype",
- "absent organism subdivision",
- "anterior region of body",
- "Abnormality of the orbital region",
- "simple eye physiology phenotype",
- "neck",
- "craniocervical region phenotype",
- "Myopia",
- "diencephalon",
+ "Lacticaciduria",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
"lateral structure physiology phenotype",
- "hindbrain morphology phenotype",
- "subdivision of vertebral column phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manual digit 1 or 5",
- "eye physiology phenotype",
- "erythrocyte morphology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "decreased size of the anatomical entity",
+ "blood",
+ "heteroorganic entity",
+ "multicellular organismal process",
+ "Muscle weakness",
+ "organ part",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "anatomical entity height phenotype",
+ "atom",
+ "carbohydrate",
+ "biological_process",
+ "renal tubule",
+ "nitrogen molecular entity",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
+ "musculoskeletal system",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "excretory tube phenotype",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "homeostatic process phenotype",
+ "trunk region element physiology phenotype",
+ "material anatomical entity physiology phenotype",
+ "urine phosphate level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "information biomacromolecule",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "organic acid",
+ "ossification",
+ "Abnormal circulating metabolite concentration",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "organ physiology phenotype",
+ "main body axis",
+ "organism substance",
+ "Rickets",
+ "hemolymphoid system",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "decreased functionality of the epithelial tube",
+ "haemolymphatic fluid",
+ "phosphate",
+ "primary amide",
+ "elemental molecular entity",
+ "ion",
+ "increased level of rac-lactic acid in urine",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
+ "hematopoietic system phenotype",
+ "quality",
+ "phosphoric acid derivative",
+ "Abnormal urine carboxylic acid level",
+ "system process",
+ "decreased level of chemical entity",
+ "decreased level of chemical entity in blood",
+ "genitourinary system phenotype",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "trunk",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate level phenotype",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "monoatomic entity",
+ "subdivision of trunk",
+ "decreased functionality of the nephron tubule",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "kidney physiology phenotype",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
"lateral structure",
- "ectoderm-derived structure",
- "number of platelet phenotype",
- "granulocyte",
- "Morphological central nervous system abnormality",
- "visual system",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "anatomical structure physiology phenotype",
- "nervous system morphology phenotype",
- "Abnormality of joint mobility",
- "metapodium bone phenotype",
- "arm",
- "skeleton of limb phenotype",
- "Short forearm",
- "growth phenotype",
- "sensory perception of mechanical stimulus",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "epithelium",
+ "decreased functionality of the tube",
"Abnormality of the upper urinary tract",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "immune system morphology phenotype",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "Abnormal small intestine morphology",
- "Abnormal granulocyte count",
- "absent mesoderm-derived structure",
- "Abnormal anterior eye segment morphology",
- "fused anatomical entity and cervical vertebra",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "abdominal segment of trunk",
+ "abdomen",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
"excretory tube",
- "absent limb endochondral element in the limb",
- "erythrocyte",
- "artery",
- "cardiac septum",
- "absent endochondral bone",
- "absent anatomical structure in the limb",
- "serotonin secreting cell",
- "lamina phenotype",
- "Thrombocytopenia",
- "platelet",
- "Abnormal platelet morphology",
- "non-connected functional system",
- "decreased number of granulocyte",
- "platelet phenotype",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "secretory cell",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "renal system process phenotype",
"anatomical entity dysfunction in independent continuant",
- "Abnormal platelet count",
- "multicellular organism development",
- "structure with developmental contribution from neural crest, curved phenotype",
- "endocrine gland physiology phenotype",
- "establishment of localization phenotype",
- "Chromosome breakage",
- "Abnormality of thrombocytes",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal circulating hormone concentration",
- "regional part of brain",
- "manual digit plus metapodial segment",
- "absent multi cell part structure",
- "Aplasia/Hypoplasia of fingers",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased length of forelimb long bone",
- "decreased length of manual digit 1 or 5",
- "manual digit 1 plus metapodial segment",
- "digit 1 phenotype",
- "digit 1",
- "sensory perception of mechanical stimulus phenotype",
- "absent anatomical entity in the brain ventricle/choroid plexus",
- "decreased size of the autopodial extension",
- "upper urinary tract phenotype",
- "regulation of cellular metabolic process phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "manual digit morphology in the manus phenotype",
- "absent tissue in the multicellular organism",
- "manus",
- "Abnormal hand morphology",
- "absent material anatomical entity in the brain",
- "Abnormality of metabolism/homeostasis",
- "acropodial skeleton",
- "Short thumb",
- "Abnormality of the hand",
- "skull",
- "skeleton of manus",
- "vertebra morphology phenotype",
- "Abnormal finger morphology",
- "decreased length of limb long bone",
- "aplasia or hypoplasia of manual digit",
- "autopodial extension",
- "commissure of telencephalon",
- "formed cerebellum",
- "absent organ in the forelimb",
- "decreased functionality of the material anatomical entity",
- "Short digit",
- "autopod region morphology phenotype",
- "autopod region phenotype",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "kidney",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "s-block element atom",
+ "musculature",
+ "decreased role blood level",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "role blood level phenotype",
+ "monovalent inorganic cation",
+ ],
+ },
+ {
+ "id": "MONDO:0100238",
+ "category": "biolink:Disease",
+ "name": "inherited Fanconi renotubular syndrome",
+ "description": "An instance of Fanconi renotubular syndrome that is inherited.",
+ "provided_by": "phenio_nodes",
+ "xref": ["OMIMPS:134600"],
+ "synonym": ["hereditary Fanconi renotubular syndrome"],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "HP:0001994",
+ "category": "biolink:PhenotypicFeature",
+ "name": "Renal Fanconi syndrome",
+ "provided_by": "phenio_nodes",
+ "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"],
+ "namespace": "HP",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "MONDO:0011584",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group D1",
+ "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",
+ "provided_by": "phenio_nodes",
+ "xref": [
+ "DOID:0111089",
+ "GARD:17449",
+ "MEDGEN:325420",
+ "MESH:C563980",
+ "NCIT:C125705",
+ "OMIM:605724",
+ "Orphanet:319462",
+ "SCTID:766707003",
+ "UMLS:C1838457",
+ ],
+ "synonym": [
+ "FAD1",
+ "FANCD1",
+ "Fad1",
+ "Fanconi anemia complementation group D1",
+ "Fanconi anemia, complementation group D1",
+ "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0000252",
+ "HP:0004808",
+ "HP:0009778",
+ "HP:0005528",
+ "HP:0001511",
+ "HP:0000957",
+ "HP:0003221",
+ "HP:0001508",
+ "HP:0004322",
+ "HP:0006727",
+ "HP:0002023",
+ ],
+ "has_phenotype_label": [
+ "Microcephaly",
+ "Acute myeloid leukemia",
+ "Short thumb",
+ "Bone marrow hypocellularity",
+ "Intrauterine growth retardation",
+ "Cafe-au-lait spot",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Failure to thrive",
+ "Short stature",
+ "T-cell acute lymphoblastic leukemias",
+ "Anal atresia",
+ ],
+ "has_phenotype_count": 11,
+ "has_phenotype_closure": [
+ "UPHENO:0086644",
+ "HP:0004378",
+ "HP:0002023",
+ "UPHENO:0063599",
+ "UPHENO:0074227",
+ "UBERON:0001245",
+ "UPHENO:0074229",
+ "UBERON:0000025",
+ "UBERON:0000161",
+ "UPHENO:0076803",
+ "HP:0025031",
+ "UPHENO:0002812",
+ "UPHENO:0074230",
+ "UPHENO:0074245",
+ "UPHENO:0074228",
+ "UPHENO:0002668",
+ "HP:0000002",
+ "UPHENO:0081424",
+ "UPHENO:0080351",
+ "UPHENO:0010799",
+ "UPHENO:0054374",
+ "UPHENO:0010763",
+ "HP:0004325",
+ "UPHENO:0010808",
+ "UPHENO:0002949",
+ "HP:0001508",
+ "UPHENO:0010795",
+ "UPHENO:0082761",
+ "GO:0005623",
+ "UPHENO:0050007",
+ "HP:0025033",
+ "UPHENO:0049775",
+ "HP:0001939",
+ "GO:0010468",
+ "GO:0031327",
+ "UPHENO:0049904",
+ "GO:0050794",
+ "GO:0019222",
+ "GO:0048519",
+ "GO:0065007",
+ "GO:0008152",
+ "GO:0060255",
+ "GO:0048523",
+ "UPHENO:0050025",
+ "UPHENO:0049620",
+ "UPHENO:0050435",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0031049",
+ "GO:0031052",
+ "GO:0009890",
+ "GO:0031324",
+ "HP:0003221",
+ "GO:0010629",
+ "UPHENO:0050778",
+ "HP:0001034",
+ "HP:0011121",
+ "HP:0000953",
+ "GO:0043473",
+ "HP:0001574",
+ "UPHENO:0049757",
+ "HP:0000957",
+ "UPHENO:0080662",
+ "HP:0000951",
+ "UBERON:0002097",
+ "UBERON:0002416",
+ "UPHENO:0002635",
+ "UPHENO:0052160",
+ "HP:0006721",
+ "UPHENO:0049642",
+ "UPHENO:0050106",
+ "UPHENO:0053456",
+ "GO:0009790",
+ "UPHENO:0082794",
+ "GO:0032501",
+ "UPHENO:0049874",
+ "BFO:0000015",
+ "UPHENO:0005647",
+ "HP:0001510",
+ "HP:0001507",
+ "BFO:0000003",
+ "UPHENO:0080382",
+ "HP:0011355",
+ "UPHENO:0005573",
+ "UPHENO:0005597",
+ "UPHENO:0005642",
+ "UPHENO:0050034",
+ "UPHENO:0003811",
+ "GO:0048856",
+ "HP:0034915",
+ "GO:0007275",
+ "UPHENO:0000541",
+ "UPHENO:0000543",
+ "HP:0001511",
+ "UBERON:0001007",
+ "UBERON:0000479",
+ "CL:0002092",
+ "UBERON:0002371",
+ "HP:0005528",
+ "UPHENO:0080393",
+ "HP:0012145",
+ "GO:0010556",
+ "PR:000050567",
+ "UPHENO:0050068",
+ "HP:0011297",
+ "UPHENO:0002944",
+ "UPHENO:0012308",
+ "UPHENO:0046411",
+ "HP:0012733",
+ "UPHENO:0046445",
+ "HP:0007400",
+ "UPHENO:0069236",
+ "HP:0001155",
+ "UPHENO:0079876",
+ "UPHENO:0086700",
+ "UPHENO:0084763",
+ "HP:0045060",
+ "UPHENO:0063581",
+ "UPHENO:0086633",
+ "UBERON:0001474",
+ "UPHENO:0052694",
+ "UBERON:0006058",
+ "UBERON:5002389",
+ "UBERON:5006048",
+ "UBERON:0002544",
+ "HP:0040068",
+ "CL:0002242",
+ "HP:0032251",
+ "HP:0004377",
+ "HP:0010987",
+ "HP:0000924",
+ "UPHENO:0074237",
+ "GO:0032502",
+ "UBERON:0001440",
+ "UPHENO:0069254",
+ "UPHENO:0075220",
+ "UPHENO:0088186",
+ "HP:0009815",
+ "UBERON:0000075",
+ "UPHENO:0063562",
+ "CL:0002191",
+ "UPHENO:0046624",
+ "UPHENO:0005431",
+ "UBERON:0000475",
+ "HP:0000240",
+ "HP:0004323",
+ "UPHENO:0046741",
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+ "HP:0000001",
+ "UBERON:0001442",
+ "UPHENO:0046426",
+ ],
+ "has_phenotype_closure_label": [
+ "anus",
+ "closing of the multicellular anatomical structure",
+ "multicellular anatomical structure atresia",
+ "digestive tract",
+ "anatomical conduit atresia",
+ "anus morphology phenotype",
+ "Abnormal anus morphology",
+ "Anal atresia",
+ "anus atresia",
+ "tube",
+ "orifice",
+ "orifice phenotype",
+ "Abnormal digestive system morphology",
"closing of the anatomical entity",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "Short finger",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "Abnormal cerebral subcortex morphology",
- "decreased length of digit",
- "autopodial skeleton",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "Abnormal finger phalanx morphology",
+ "digestive system morphology phenotype",
+ "T-cell acute lymphoblastic leukemias",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased qualitatively growth",
+ "multicellular organism mass phenotype",
+ "multicellular anatomical structure mass phenotype",
+ "closing of the anatomical structure",
+ "material anatomical entity mass phenotype",
+ "anatomical entity mass phenotype",
+ "multicellular organism phenotype",
+ "Abnormality of body weight",
+ "anatomical structure mass phenotype",
+ "Abnormality of the digestive system",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of cellular metabolic process",
+ "Chromosome breakage",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "closing of the material anatomical entity",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "regulation of cellular biosynthetic process phenotype",
"Abnormal skin morphology",
- "decreased length of autopodial extension",
- "multicellular anatomical structure physiology phenotype",
- "renal pelvis/ureter",
- "axial skeleton plus cranial skeleton morphology phenotype",
- "decreased length of digit 1 or 5",
- "cardiac ventricle phenotype",
- "multi organ part structure physiology phenotype",
- "upper urinary tract",
- "digit 1 or 5 phenotype",
- "anatomical entity morphology in the manus phenotype",
- "posterior segment of eyeball morphology phenotype",
- "multi-tissue structure",
- "malformed anatomical entity",
- "autopod endochondral element",
- "decreased length of mesoderm-derived structure",
- "sac physiology phenotype",
- "central nervous system",
- "posterior segment of eyeball",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "ocular fundus",
- "Abnormal joint morphology",
- "anatomical wall phenotype",
- "decreased size of the forelimb bone",
- "Neurodevelopmental abnormality",
- "multi-limb segment region",
- "decreased size of the bone element",
- "optic disc morphology phenotype",
- "negative regulation of metabolic process",
- "Abnormal fundus morphology",
- "granulocyte morphology phenotype",
- "multicellular organism development phenotype",
- "Opisthokonta",
- "cranial nerve II",
- "Abnormal posterior eye segment morphology",
- "endocrine system morphology phenotype",
- "organ physiology phenotype",
- "retina phenotype",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "Irregular hyperpigmentation",
+ "skin of body phenotype",
+ "pigmentation",
+ "Hypermelanotic macule",
+ "skin of body morphology phenotype",
+ "Cafe-au-lait spot",
+ "increased biological_process in skin of body",
+ "increased pigmentation",
+ "integumental system",
+ "skin of body",
+ "Macule",
+ "Abnormality of the integument",
"decreased embryo development",
- "organism",
- "organ component layer",
- "ear morphology phenotype",
- "decreased size of the organism subdivision",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormal optic nerve morphology",
- "Abnormal nervous system morphology",
- "absent ectoderm-derived structure in the brain ventricle",
- "root",
- "cranial neuron projection bundle phenotype",
- "chorioretinal region",
- "endoderm-derived structure",
- "Abnormality of the nervous system",
- "axon tract",
- "decreased qualitatively system process",
- "digestive system",
- "biological regulation phenotype",
- "metapodium bone 1",
- "phalanx",
- "peptide hormone secretion",
- "Abnormal retinal morphology",
- "cellular organisms",
- "digestive system morphology phenotype",
- "nervous system",
- "Abnormal optic disc morphology",
- "cranial nerve II morphology phenotype",
- "ureter physiology phenotype",
- "intestine atresia",
- "Optic disc pallor",
- "biological_process phenotype",
- "Intrauterine growth retardation",
- "Growth delay",
- "number of anatomical enitites of type intercerebral commissure phenotype",
- "regulation of biological quality",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "Aplasia/Hypoplasia of the cerebrum",
- "absent organ",
+ "negative regulation of biosynthetic process",
+ "decreased qualitatively multicellular organismal process",
+ "closing of the anatomical conduit",
+ "decreased qualitatively biological_process",
"process",
- "embryo development",
- "anatomical collection phenotype",
- "occurrent",
+ "developmental process rate phenotype",
+ "anatomical structure development phenotype",
"biological_process",
- "musculature of body",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "neural crest-derived structure, curved phenotype",
"developmental process",
- "Hypermelanotic macule",
- "skull phenotype",
- "hindbrain",
- "secretion",
- "multicellular organismal process phenotype",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "material anatomical entity phenotype",
+ "multicellular organismal process",
+ "Acute lymphoblastic leukemia",
+ "growth",
+ "decreased multicellular organismal process",
+ "growth phenotype",
+ "biological_process rate phenotype",
"decreased qualitatively multicellular organism development",
- "embryo development phenotype",
+ "regulation of cellular process phenotype",
+ "anatomical structure development",
+ "decreased anatomical structure development",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
"delayed growth",
- "decreased multicellular organismal process",
- "decreased qualitatively developmental process",
- "decreased length of endochondral bone",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "Macule",
- "eyeball of camera-type eye",
- "decreased system process",
- "multi organ part structure",
- "growth",
- "decreased sensory perception",
- "nervous system process",
- "thyroid gland physiology phenotype",
- "Abnormality of the ear",
- "Absent septum pellucidum",
- "intestine",
- "decreased size of the limb bone",
- "sensory perception",
- "Abnormal ear morphology",
- "anterior segment of eyeball",
- "absent endochondral bone in the forelimb",
- "Abnormality of the middle ear",
- "phalanx of manus",
- "Hearing abnormality",
- "Microcephaly",
- "decreased sensory perception of mechanical stimulus",
- "nitrogen compound transport",
- "vibrational conductance of sound to the inner ear",
- "Abnormality of the hypothalamus-pituitary axis",
- "absent forelimb bone in the forelimb",
- "optic disc",
- "ear phenotype",
- "absent radius bone",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of sound",
- "aplasia or hypoplasia of telencephalon",
- "aplastic manual digit 1",
- "paired limb/fin skeleton",
- "absent manual digit",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "absent digit",
- "Finger aplasia",
- "Microphthalmia",
- "heart phenotype",
- "cranial skeletal system",
- "Aplasia/Hypoplasia affecting the eye",
- "vasculature phenotype",
- "incomplete closing of the blood vessel",
- "decreased size of the ectoderm-derived structure",
- "ectoderm-derived structure atresia",
- "decreased size of the sense organ",
- "decreased size of the eyeball of camera-type eye",
- "endoderm-derived structure physiology phenotype",
- "decreased functionality of the endocrine gland",
- "Abnormal ureter physiology",
- "transport phenotype",
- "absent limb endochondral element",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "endocrine gland phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "decreased functionality of the structure with developmental contribution from neural crest",
- "skeletal system morphology phenotype",
- "decreased functionality of the thyroid gland",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "glandular system",
- "neck bone phenotype",
- "localization phenotype",
- "sensory perception phenotype",
- "endocrine gland",
- "decreased length of arm bone",
- "Abnormality of thyroid physiology",
- "decreased functionality of the multicellular anatomical structure",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "decreased functionality of the organ",
- "thyroid gland",
- "segmental subdivision of hindbrain phenotype",
- "gland",
- "dorsum",
+ "embryo development rate phenotype",
+ "embryo development",
+ "delayed biological_process",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "tissue",
+ "digestive system phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormal limb bone morphology",
+ "Abnormal finger morphology",
+ "organ phenotype",
+ "endochondral bone phenotype",
+ "skeletal element phenotype",
+ "decreased size of the manual digit",
+ "bone of appendage girdle complex phenotype",
+ "decreased length of digit 1",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased size of the anatomical structure",
+ "limb bone phenotype",
"bone element phenotype",
- "decreased functionality of the anatomical structure",
- "Cerebellar malformation",
- "formed multi-tissue structure",
+ "regulation of gene expression",
+ "autopod region morphology phenotype",
+ "Localized skin lesion",
+ "Abnormal hand morphology",
+ "digit plus metapodial segment",
+ "autopodial extension",
+ "Abnormality of limbs",
+ "decreased anatomical structure mass",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased length of digit",
+ "skeleton of pectoral complex",
+ "appendicular skeletal system",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Abnormality of skin pigmentation",
+ "skeleton of limb",
+ "myeloblast",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "granulocytopoietic cell",
+ "eukaryotic cell",
+ "independent continuant",
+ "anatomical entity morphology in the manus phenotype",
+ "negative regulation of gene expression phenotype",
+ "multicellular organism development",
+ "segment of autopod",
+ "hemolymphoid system",
+ "central nervous system",
+ "multi-tissue structure phenotype",
+ "Decreased multicellular organism mass",
+ "Abnormal brain morphology",
+ "cellular organisms",
+ "skull morphology phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of head or neck",
+ "decreased length of digit 1 or 5",
+ "regional part of nervous system",
+ "forebrain",
+ "appendage phenotype",
"brain",
- "negative regulation of biological process phenotype",
- "duodenum",
- "Abnormal hindbrain morphology",
- "intestine phenotype",
- "regulation of cellular biosynthetic process",
- "autopod endochondral element phenotype",
- "cerebellum phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "closing of the anatomical structure",
- "Chiari malformation",
- "formed multicellular anatomical structure",
- "fused vertebra and bony vertebral centrum",
- "incomplete closing of the mesoderm-derived structure",
- "Aplasia/Hypoplasia of the optic nerve",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone marrow cell",
+ "system",
+ "manus phenotype",
+ "craniocervical region phenotype",
+ "main body axis",
+ "organism subdivision phenotype",
+ "endochondral element",
+ "nervous system",
+ "anatomical entity atresia",
+ "decreased length of material anatomical entity",
+ "nucleate cell",
+ "Decreased anatomical entity mass",
+ "manual digitopodium region",
+ "ectoderm-derived structure",
"structure with developmental contribution from neural crest",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "formed regional part of nervous system",
- "nervous system commissure",
- "formed regional part of brain",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "Abnormality of body height",
- "forelimb long bone",
- "brain morphology phenotype",
- "hindbrain phenotype",
- "cerebellum morphology phenotype",
- "Synostosis of joints",
- "eye",
- "Abnormal brain morphology",
- "skeletal joint",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "Abnormal joint physiology",
- "Global developmental delay",
- "commissure of telencephalon phenotype",
- "manual digit",
- "vertebral element phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "cervical region",
- "aplasia or hypoplasia of metacarpal bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "fused anatomical entity and skeletal joint",
- "absent forelimb endochondral element in the forelimb",
- "cervical vertebra morphology phenotype",
- "axial skeletal system",
- "postcranial axial skeletal system",
- "axial skeleton plus cranial skeleton",
- "decreased number of cell",
- "axial skeleton plus cranial skeleton phenotype",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "chemical entity",
- "dorsal region element",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "neck bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "pectoral complex",
- "cervical region of vertebral column",
- "absent mesoderm-derived structure in the multicellular organism",
- "renal system",
- "digitopodium bone",
- "Fused cervical vertebrae",
- "neck morphology phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "trunk or cervical vertebra",
- "articulation",
- "programmed DNA elimination",
- "Abnormality of skull size",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "fused skeletal joint and anatomical entity",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "limb long bone phenotype",
- "Vertebral segmentation defect",
- "fused vertebra and vertebra",
- "dorsal part of neck morphology phenotype",
- "skeletal joint phenotype",
- "fused anatomical entity and anatomical entity",
- "brain ventricle/choroid plexus",
- "fused anatomical entity and vertebra",
+ "anatomical entity",
+ "skull phenotype",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "negative regulation of gene expression",
+ "Phenotypic abnormality",
+ "anus phenotype",
+ "material entity",
"regulation of macromolecule biosynthetic process",
- "articular system",
+ "head phenotype",
+ "organism subdivision",
+ "regional part of brain phenotype",
+ "limb segment phenotype",
+ "telencephalon",
+ "Abnormality of the skeletal system",
+ "decreased size of the anatomical entity",
"Abnormal axial skeleton morphology",
- "gray matter of forebrain phenotype",
- "Abnormality of the vertebral column",
- "skeletal element phenotype",
- "establishment of localization",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
+ "ectoderm-derived structure phenotype",
+ "hematopoietic system phenotype",
+ "anterior region of body",
+ "appendicular skeleton",
+ "upper limb segment",
+ "decreased multicellular organism development",
+ "regional part of nervous system phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Bone marrow hypocellularity",
+ "skeletal element",
"Aplasia/Hypoplasia involving the central nervous system",
- "blood",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "signal release phenotype",
- "amide transport",
- "negative regulation of cellular process",
- "decreased number of platelet",
- "formed material anatomical entity",
- "peptide secretion",
- "peptide secretion phenotype",
- "transport",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent long bone in the forelimb",
- "haemolymphatic fluid",
- "aplasia or hypoplasia of metacarpal bone of digit 1",
- "cellular process",
- "localization",
- "aplasia or hypoplasia of manual digit 1 phalanx",
- "decreased length of forelimb bone",
- "aplasia or hypoplasia of cranial nerve II",
- "Neurodevelopmental delay",
- "Abnormal corpus callosum morphology",
- "growth hormone secretion",
- "decreased length of manual digit 1 phalanx",
- "decreased length of manual digit 1",
- "amide transport phenotype",
- "urinary bladder",
- "cellular process phenotype",
- "arterial system",
- "cell communication",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "absent dorsal telencephalic commissure",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "radius bone hypoplasia",
- "anatomical entity hypoplasia",
- "peptide transport phenotype",
- "absent radius bone in the forelimb",
- "mesoderm-derived structure morphology in the heart phenotype",
- "bodily fluid",
- "manus bone",
- "growth hormone secretion phenotype",
- "Abnormal lateral ventricle morphology",
- "bladder organ physiology phenotype",
- "Abnormality of the neck",
- "Abnormal neck morphology",
- "Abnormality of the cervical spine",
- "anatomical cluster phenotype",
+ "decreased size of the organism subdivision",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
+ "Abnormal nervous system morphology",
+ "anatomical system phenotype",
+ "decreased size of the digit",
+ "autopodial extension phenotype",
+ "Chromosomal breakage induced by crosslinking agents",
+ "forebrain morphology phenotype",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "appendage",
+ "anatomical entity phenotype",
+ "root",
+ "immune system",
+ "myeloid cell",
+ "quality",
+ "musculoskeletal system",
+ "Abnormal cell morphology",
+ "phenotype",
+ "head morphology phenotype",
+ "Abnormality of the anus",
+ "organ system subdivision",
+ "anatomical conduit phenotype",
+ "axial skeleton plus cranial skeleton",
+ "Abnormality of the nervous system",
+ "Metazoa",
+ "multi-tissue structure",
+ "decreased multicellular anatomical structure mass",
+ "increased qualitatively biological_process",
+ "All",
+ "anatomical collection",
+ "nervous system phenotype",
+ "Abnormality of the immune system",
+ "Abnormal cerebral morphology",
+ "specifically dependent continuant",
+ "Abnormal forebrain morphology",
+ "multi-limb segment region phenotype",
+ "anatomical conduit",
+ "Abnormality of the head",
+ "Decreased head circumference",
+ "biological regulation phenotype",
+ "Abnormality of skull size",
+ "pectoral complex",
+ "homeostatic process phenotype",
+ "brain morphology phenotype",
+ "anatomical entity length phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "decreased growth",
+ "disconnected anatomical group",
+ "material anatomical entity atresia",
+ "regulation of gene expression phenotype",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of biological process phenotype",
+ "subdivision of skeletal system",
+ "Leukemia",
+ "entity",
+ "continuant",
+ "multicellular anatomical structure",
+ "neoplasm phenotype",
+ "telencephalon phenotype",
+ "progenitor cell",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "pectoral appendage skeleton",
+ "regional part of brain",
+ "musculature",
+ "anatomical structure",
+ "Hyperpigmentation of the skin",
+ "digit",
+ "limb endochondral element phenotype",
+ "Decreased body weight",
+ "decreased qualitatively developmental process",
+ "postcranial axial skeleton",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "bone of appendage girdle complex",
+ "regulation of biological process",
+ "hematopoietic lineage restricted progenitor cell",
+ "nervous system morphology phenotype",
+ "digit 1 phenotype",
+ "decreased size of the multicellular organism",
+ "myeloid lineage restricted progenitor cell",
+ "telencephalon morphology phenotype",
+ "ectoderm-derived structure atresia",
+ "immune system morphology phenotype",
+ "decreased material anatomical entity mass",
+ "subdivision of organism along main body axis",
"integument phenotype",
- "renal system phenotype",
- "decreased length of organism subdivision",
- "Short neck",
- "nervous system physiology phenotype",
- "obsolete cell",
- "negative regulation of macromolecule metabolic process",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus",
+ "decreased developmental process",
+ "central nervous system morphology phenotype",
+ "axial skeletal system",
+ "motile cell",
+ "skeletal system",
+ "multicellular anatomical structure phenotype",
+ "multicellular organism height phenotype",
+ "cranial skeletal system",
+ "limb morphology phenotype",
+ "decreased length of manual digit",
+ "Eumetazoa",
+ "Eukaryota",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of skeletal system phenotype",
+ "digit 1 or 5",
+ "programmed DNA elimination by chromosome breakage",
+ "Growth abnormality",
+ "size of skull phenotype",
+ "anatomical entity morphology phenotype",
+ "multicellular organism development phenotype",
+ "subdivision of organism along appendicular axis",
+ "musculature of body",
+ "body proper",
+ "pectoral appendage",
"regulation of biosynthetic process phenotype",
- "regulation of metabolic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "organ system subdivision phenotype",
- "urinary bladder physiology phenotype",
- "homeostatic process",
- "negative regulation of gene expression",
- "pectoral appendage phenotype",
- "decreased qualitatively nervous system process",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "taxon specific phenotype",
"negative regulation of macromolecule metabolic process phenotype",
- "regulation of macromolecule metabolic process",
- "Abnormality of chromosome stability",
- "Abnormal cerebral morphology",
- "bone of dorsum phenotype",
- "forebrain morphology phenotype",
- "cranial neuron projection bundle",
- "telencephalic ventricle",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "ureter",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "telencephalon",
- "reproductive gland phenotype",
- "forebrain",
- "telencephalon morphology phenotype",
- "decreased length of metapodium bone",
- "Aplasia/hypoplasia involving bones of the hand",
- "Colpocephaly",
- "brain ventricle phenotype",
- "telencephalon phenotype",
- "telencephalic ventricle morphology phenotype",
- "Abnormal forebrain morphology",
- "compound organ physiology phenotype",
- "bladder organ phenotype",
- "excretory tube phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "cavitated compound organ",
- "sac",
- "pelvic region element",
- "increased biological_process in skin of body",
- "Abnormal myeloid leukocyte morphology",
- "genitourinary system phenotype",
- "lower urinary tract phenotype",
- "manual digit 1 phalanx",
- "urinary bladder phenotype",
- "kidney",
- "incomplete closing of the anatomical structure",
- "viscus physiology phenotype",
- "trunk region element physiology phenotype",
- "face phenotype",
- "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "digestive system",
+ "Abnormal leukocyte morphology",
+ "precursor cell",
+ "manual digit 1 plus metapodial segment",
+ "skeletal system phenotype",
+ "Abnormality of the skin",
+ "organ system subdivision phenotype",
+ "craniocervical region",
+ "aplasia or hypoplasia of telencephalon",
+ "Growth delay",
+ "decreased length of multicellular anatomical structure",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "bone of free limb or fin",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical system",
+ "occurrent",
+ "appendicular skeleton morphology phenotype",
+ "organ",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "multicellular organism morphology phenotype",
+ "Abnormal cellular immune system morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Short stature",
+ "decreased biological_process",
+ "Aplasia/hypoplasia of the extremities",
+ "manual digit plus metapodial segment",
+ "integument",
+ "leukocyte morphology phenotype",
+ "limb bone",
+ "mesoderm-derived structure",
+ "non-connected functional system",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "Abnormal cellular phenotype",
+ "Neoplasm by anatomical site",
+ "decreased length of manual digit 1",
+ "Acute leukemia",
+ "embryo development phenotype",
+ "manual digit 1 or 5",
+ "Neoplasm",
+ "hematopoietic cell",
+ "leukocyte",
"skeleton",
- "sac phenotype",
- "Abnormal leukocyte count",
- "bladder organ",
- "Abnormality of the lower urinary tract",
- "pelvic region of trunk",
- "abdominal segment element phenotype",
- "genitourinary system",
- "cardiovascular system phenotype",
- "secretion phenotype",
- "anatomical cluster",
- "size of skull phenotype",
+ "immune system phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal immune system morphology",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "organism",
+ "autopod region",
+ "Abnormal cellular physiology",
+ "forelimb morphology phenotype",
+ "limb segment",
+ "multicellular organismal process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "decreased size of the multicellular anatomical structure",
+ "Short finger",
+ "skeleton of manus",
+ "Failure to thrive",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "closing of the ectoderm-derived structure",
+ "limb endochondral element",
+ "autopodial skeleton",
+ "lateral structure",
+ "Acute myeloid leukemia",
+ "Short digit",
+ "Abnormal skeletal morphology",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "anatomical collection phenotype",
+ "limb bone morphology phenotype",
+ "manual digit",
+ "arm",
+ "material anatomical entity phenotype",
+ "manus morphology phenotype",
+ "hematopoietic system",
+ "multicellular organism",
+ "arm phenotype",
+ "postcranial axial skeletal system",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Microcephaly",
+ "skeleton phenotype",
+ "paired limb/fin",
+ "forelimb skeleton",
+ "Abnormal thumb morphology",
+ "appendage girdle complex",
+ "digit phenotype",
+ "bone marrow",
+ "acropodium region",
+ "developmental process phenotype",
+ "paired limb/fin segment phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "manual digit 1",
+ "skull",
+ "decreased length of organism subdivision",
+ "decreased length of anatomical entity",
+ "negative regulation of cellular process phenotype",
+ "decreased size of the autopodial extension",
+ "digit 1 plus metapodial segment",
+ "decreased length of anatomical structure",
+ "Hematological neoplasm",
+ "Abnormality of the hand",
+ "hematopoietic precursor cell",
+ "limb",
+ "cell",
+ "Abnormality of the upper limb",
+ "negative regulation of macromolecule biosynthetic process",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Abnormal digit morphology",
+ "orifice atresia",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "decreased length of autopodial extension",
"upper limb segment phenotype",
- "Abnormal skull morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "cranial skeletal system phenotype",
- "Atresia of the external auditory canal",
- "number of anatomical enitites of type anatomical structure phenotype",
- "external acoustic meatus morphology phenotype",
- "regulation of hormone levels phenotype",
- "immune system",
- "closing of the anatomical conduit",
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "limb skeleton subdivision",
+ "manual digit morphology in the manus phenotype",
+ "multi-limb segment region",
+ "pigmentation phenotype",
+ "manual digit phenotype",
+ "Intrauterine growth retardation",
+ "Short thumb",
+ "anatomical structure atresia",
+ "manual digit 1 morphology phenotype",
+ "endochondral element phenotype",
+ "decreased length of manual digit 1 or 5",
+ "head",
+ "Abnormality of limb bone",
+ "biological_process phenotype",
+ "decreased size of the material anatomical entity",
],
},
{
- "id": "MONDO:0012187",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group J",
- "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
+ "name": "Fanconi anemia complementation group O",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
"provided_by": "phenio_nodes",
- "xref": [
- "DOID:0111097",
- "GARD:15449",
- "MEDGEN:323015",
- "MESH:C563801",
- "NCIT:C129027",
- "OMIM:609054",
- "UMLS:C1836860",
- ],
+ "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
"synonym": [
- "FANCJ",
- "Fanconi Anemia, complementation group type J",
- "Fanconi anaemia complementation group type J",
- "Fanconi anemia complementation group J",
- "Fanconi anemia complementation group type J",
- "Fanconi anemia, complementation group J",
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia",
],
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0001245",
+ "HP:0003774",
+ "HP:0002984",
+ "HP:0000126",
+ "HP:0000028",
"HP:0009778",
- "HP:0005528",
- "HP:0001511",
- "HP:0007565",
- "HP:0008897",
- "HP:0000568",
- "HP:0001263",
- "HP:0003221",
+ "HP:0009623",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0003241",
+ "HP:0004322",
+ "HP:0002023",
+ "HP:0025023",
],
"has_phenotype_label": [
+ "Absent thumb",
+ "Chromosome breakage",
+ "Small thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "Hypoplasia of the radius",
+ "Hydronephrosis",
+ "Cryptorchidism",
"Short thumb",
- "Bone marrow hypocellularity",
- "Intrauterine growth retardation",
- "Multiple cafe-au-lait spots",
- "Postnatal growth retardation",
- "Microphthalmia",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
+ "Proximal placement of thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "Short stature",
+ "Anal atresia",
+ "Rectal atresia",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"has_phenotype_closure": [
- "GO:0009889",
- "GO:0048523",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "HP:0003221",
- "UPHENO:0049904",
+ "UBERON:0013522",
+ "UPHENO:0063629",
+ "UPHENO:0002994",
+ "UBERON:0013765",
+ "UPHENO:0074310",
+ "UPHENO:0076735",
+ "HP:0002589",
+ "UPHENO:0074311",
+ "UPHENO:0076783",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UBERON:0001353",
+ "NCBITaxon:131567",
+ "UPHENO:0002714",
+ "HP:0002242",
+ "UPHENO:0063615",
+ "HP:0012732",
+ "UPHENO:0076773",
+ "UBERON:0000059",
+ "HP:0002034",
+ "UBERON:0000481",
+ "NCBITaxon:1",
+ "HP:0012718",
+ "UPHENO:0063563",
+ "UBERON:0000160",
+ "UBERON:0006866",
+ "UBERON:0001052",
+ "HP:0011100",
+ "UPHENO:0002725",
+ "UPHENO:0063577",
+ "HP:0004378",
+ "UPHENO:0002548",
+ "UPHENO:0074227",
+ "HP:0034915",
+ "UBERON:0000025",
+ "UPHENO:0076803",
+ "UPHENO:0063594",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "HP:0025033",
+ "UPHENO:0002833",
+ "UPHENO:0074230",
+ "UPHENO:0074245",
+ "UBERON:0001555",
+ "UPHENO:0063562",
+ "UPHENO:0074237",
+ "UPHENO:0000543",
+ "HP:0001507",
+ "HP:0003011",
+ "UBERON:0001630",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "HP:0011425",
+ "UBERON:0008837",
+ "HP:0002250",
+ "UBERON:0034929",
+ "UPHENO:0002655",
+ "HP:0040070",
"UPHENO:0050784",
- "GO:0019222",
- "UPHENO:0049620",
+ "GO:0008150",
+ "UPHENO:0081424",
+ "UPHENO:0003049",
+ "GO:0010558",
+ "HP:0009821",
+ "UPHENO:0004518",
"UPHENO:0049642",
- "GO:0010556",
- "GO:0031326",
- "GO:0010605",
- "UPHENO:0050065",
- "UPHENO:0050063",
- "UPHENO:0050435",
- "GO:0031052",
+ "UPHENO:0046472",
+ "GO:0009889",
+ "HP:0030680",
+ "NCBITaxon:33208",
+ "HP:0011017",
+ "UPHENO:0002976",
"UPHENO:0050025",
- "HP:0001939",
- "GO:0031327",
+ "CL:0000000",
+ "GO:0009890",
+ "UPHENO:0002750",
+ "UPHENO:0081466",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "GO:0010629",
+ "HP:0001626",
"GO:0008152",
- "GO:0042592",
+ "UPHENO:0004900",
+ "UPHENO:0003057",
+ "BFO:0000015",
+ "UPHENO:0049587",
+ "UBERON:0019231",
+ "GO:0050794",
+ "HP:0025354",
+ "UPHENO:0063596",
+ "UPHENO:0068932",
"UPHENO:0050778",
- "UPHENO:0002269",
- "HP:0012758",
- "UPHENO:0002385",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "HP:0001263",
- "UBERON:0001016",
- "UBERON:0000019",
- "UPHENO:0069523",
- "UPHENO:0049757",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UPHENO:0002844",
- "UPHENO:0087924",
- "HP:0000478",
- "HP:0100887",
- "UPHENO:0086589",
- "UPHENO:3000007",
- "UBERON:0001456",
- "UBERON:0004088",
- "UPHENO:0002764",
- "UBERON:0013701",
- "HP:0000568",
- "UPHENO:0075219",
- "UPHENO:0078606",
- "GO:0005623",
- "UPHENO:0069064",
- "UPHENO:0003025",
- "UPHENO:0004757",
- "UBERON:0002104",
- "UBERON:0010314",
- "UPHENO:0068914",
- "UPHENO:0080209",
- "UBERON:0000033",
- "UBERON:0007811",
- "UBERON:0013702",
- "UPHENO:0005058",
- "UPHENO:0004494",
- "HP:0008897",
- "HP:0001034",
- "HP:0007400",
- "UPHENO:0054957",
- "HP:0007565",
- "UPHENO:0002548",
- "UPHENO:0003811",
- "UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000953",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0012372",
- "HP:0001000",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "HP:0012733",
- "GO:0043473",
- "UBERON:0002199",
- "UPHENO:0002861",
- "UBERON:0000475",
- "UBERON:0002371",
- "UPHENO:0003020",
- "UPHENO:0003049",
- "UPHENO:0004459",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0011355",
- "UPHENO:0003514",
- "UPHENO:0088186",
- "UPHENO:0052694",
- "HP:0003220",
- "HP:0002817",
- "UBERON:0010230",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0004909",
- "UPHENO:0012274",
- "BFO:0000004",
+ "UPHENO:0002967",
+ "HP:0010461",
+ "UPHENO:0002586",
+ "UPHENO:0081204",
+ "GO:0009892",
+ "GO:0010605",
+ "UPHENO:0080079",
+ "UPHENO:0001003",
+ "UPHENO:0002944",
+ "UBERON:0002471",
+ "UPHENO:0002926",
+ "UPHENO:0003065",
+ "HP:0001939",
+ "UPHENO:0009146",
+ "UPHENO:0011825",
+ "UPHENO:0011531",
+ "UBERON:0000383",
+ "UPHENO:0053632",
+ "UPHENO:0080352",
"UBERON:0000075",
- "UPHENO:0003069",
- "UPHENO:0003812",
- "UBERON:0006058",
- "UPHENO:0002635",
- "UPHENO:0069605",
- "UBERON:0010712",
- "UPHENO:0080126",
- "HP:0000118",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012475",
- "HP:0000957",
- "PATO:0000001",
- "UPHENO:0079876",
- "UPHENO:0076739",
- "UBERON:0011249",
- "HP:0005528",
- "UBERON:0011676",
- "UPHENO:0002733",
- "GO:0032501",
"HP:0009815",
+ "UPHENO:0088186",
+ "BFO:0000040",
+ "UPHENO:0026506",
+ "UPHENO:0068848",
+ "HP:0000083",
+ "UPHENO:0086700",
+ "UPHENO:0084763",
+ "HP:0045060",
+ "MPATH:62",
+ "UPHENO:0074228",
+ "HP:0009380",
+ "UPHENO:0026108",
+ "UPHENO:0026640",
+ "UBERON:0002386",
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- "has_phenotype_closure_label": [
- "Chromosome breakage",
- "negative regulation of biological process phenotype",
- "regulation of biological process",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "negative regulation of gene expression",
- "metabolic process",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of gene expression phenotype",
- "regulation of macromolecule biosynthetic process",
- "negative regulation of biosynthetic process",
- "biological regulation phenotype",
- "regulation of gene expression",
- "negative regulation of cellular biosynthetic process",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "Abnormality of the nervous system",
- "Abnormal nervous system physiology",
- "anatomical system physiology phenotype",
- "anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "nervous system phenotype",
- "Neurodevelopmental abnormality",
- "Abnormality of the head",
- "sense organ phenotype",
- "regulation of biosynthetic process",
- "sense organ",
- "entire sense organ system",
- "decreased size of the eyeball of camera-type eye",
- "Abnormality of the face",
- "subdivision of organism along main body axis phenotype",
- "decreased size of the sense organ",
- "visual system",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "decreased size of the organ",
- "main body axis",
- "negative regulation of metabolic process",
- "subdivision of organism along main body axis",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "simple eye phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "camera-type eye morphology phenotype",
- "Abnormality of globe size",
- "orbital region",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "face morphology phenotype",
- "Abnormal eye morphology",
- "Microphthalmia",
- "craniofacial/craniocervical phenotype",
- "simple eye",
- "eyeball of camera-type eye",
- "face phenotype",
- "eye",
- "head morphology phenotype",
- "visual system phenotype",
- "head",
- "Abnormality of the orbital region",
- "Postnatal growth retardation",
- "Irregular hyperpigmentation",
- "increased biological_process in skin of body",
- "Localized skin lesion",
- "ectoderm-derived structure",
- "Cafe-au-lait spot",
+ "UPHENO:0069674",
+ "HP:0000118",
+ "UPHENO:0002940",
+ "UBERON:0000079",
+ "UPHENO:0049620",
+ "UBERON:0000990",
+ "UPHENO:0063575",
+ "UBERON:0004176",
+ "UPHENO:0053561",
+ "HP:0012243",
+ "UBERON:0005156",
+ "HP:0000032",
+ "UPHENO:0011498",
+ "UBERON:0004381",
+ "UPHENO:0046624",
+ "HP:0009381",
+ "HP:0011927",
+ "UBERON:0012141",
+ "UPHENO:0046740",
+ "UBERON:0000991",
+ "UPHENO:0046750",
+ "UPHENO:0046426",
+ "UPHENO:0046741",
+ "UPHENO:0069236",
+ "UPHENO:0046411",
+ "UPHENO:0080369",
+ "UBERON:0014793",
+ "UPHENO:3000004",
+ "HP:0009603",
+ "UPHENO:0003093",
+ "HP:0009484",
+ "UPHENO:0084829",
+ "UPHENO:0005016",
+ "UBERON:0007100",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0004535",
+ "UBERON:0004288",
+ "UPHENO:0002830",
+ "UPHENO:0046405",
+ "UBERON:0015228",
+ "UBERON:0015410",
+ "UPHENO:0050065",
+ "UBERON:0000915",
+ "UPHENO:0075949",
+ "MPATH:0",
+ "MPATH:603",
+ "UPHENO:0049874",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0000541",
+ "UPHENO:0080351",
+ ],
+ "has_phenotype_closure_label": [
+ "Opisthokonta",
+ "Anorectal anomaly",
+ "rectum morphology phenotype",
+ "Abnormal intestine morphology",
+ "Rectal atresia",
+ "closing of the organ part",
+ "intestine morphology phenotype",
+ "intestine atresia",
+ "anatomical system atresia",
+ "subdivision of digestive tract atresia",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "rectum atresia",
+ "organism",
+ "digestive system element",
+ "internal anal region",
+ "cellular organisms",
+ "Abnormal gastrointestinal tract morphology",
+ "organ part atresia",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "alimentary part of gastrointestinal system atresia",
+ "anus",
+ "material anatomical entity atresia",
+ "closing of the anatomical structure",
+ "digestive system phenotype",
+ "digestive tract",
+ "closing of the anatomical conduit",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "Abnormal anus morphology",
"ectoderm-derived structure phenotype",
- "increased biological_process",
- "integument",
- "pigmentation",
- "Hypermelanotic macule",
- "Multiple cafe-au-lait spots",
- "Abnormality of the skin",
- "integument phenotype",
- "increased pigmentation in skin of body",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "negative regulation of gene expression phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "organism subdivision phenotype",
- "paired limb/fin segment",
- "Bone marrow hypocellularity",
- "cell phenotype",
- "negative regulation of macromolecule metabolic process",
- "size of eyeball of camera-type eye phenotype",
- "aplasia or hypoplasia of manual digit 1",
+ "orifice",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "orifice phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal digestive system morphology",
+ "root",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "Abnormality of the digestive system",
+ "closing of the ectoderm-derived structure",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "palmar/plantar part of autopod",
+ "anal region",
+ "muscle structure",
+ "large intestine",
+ "material anatomical entity",
+ "Abnormal skeletal muscle morphology",
+ "arm phenotype",
+ "thoracic cavity element",
+ "pectoral appendage musculature",
+ "musculature of upper limb",
+ "regulation of cellular metabolic process",
+ "subdivision of tube phenotype",
+ "musculature of limb phenotype",
+ "independent continuant",
+ "subdivision of skeletal system",
+ "entity",
+ "forelimb zeugopod bone morphology phenotype",
"autopod region morphology phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "paired limb/fin phenotype",
- "skeletal system phenotype",
- "bone element",
- "musculature of body",
- "multi-limb segment region",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "autopodial extension",
- "decreased length of digit",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
- "manus phenotype",
- "non-connected functional system",
- "skeleton of manus",
- "Abnormal hand morphology",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "skeleton of limb",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "regulation of biological process phenotype",
- "tissue",
- "limb bone",
- "multicellular anatomical structure",
- "subdivision of skeleton",
- "Abnormality of the hand",
- "phenotypic effect",
- "Abnormal skin morphology",
- "acropodium region",
- "anatomical entity phenotype",
- "head phenotype",
- "forelimb morphology phenotype",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "decreased length of material anatomical entity",
- "anatomical collection",
- "Aplasia/hypoplasia of the extremities",
- "anatomical structure",
- "manual digit morphology in the manus phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "anatomical entity morphology phenotype",
- "decreased size of the multicellular anatomical structure",
- "digit morphology phenotype",
- "eyeball of camera-type eye phenotype",
- "manual digit 1",
- "All",
- "organ system subdivision phenotype",
- "endochondral bone phenotype",
- "forelimb phenotype",
- "taxon specific phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
"regulation of cellular biosynthetic process",
- "decreased length of digit 1",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "Abnormal skeletal morphology",
- "delayed biological_process",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of gene expression phenotype",
"segment of autopod",
- "manus",
- "phenotype",
- "skeletal element phenotype",
- "pectoral complex",
- "nervous system",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis phenotype",
+ "reproductive system",
+ "muscle organ",
+ "musculature of pectoral complex",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "cell phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "cell",
"Abnormality of the upper limb",
- "limb morphology phenotype",
- "negative regulation of metabolic process phenotype",
- "pectoral appendage skeleton",
- "appendicular skeleton",
- "hematopoietic system phenotype",
- "continuant",
- "body proper",
- "entity",
- "decreased size of the anatomical entity in the pectoral complex",
- "bone element phenotype",
- "Abnormality of skin pigmentation",
- "Abnormality of the skeletal system",
- "anatomical entity",
- "autopod region phenotype",
- "skeleton of pectoral complex",
- "manual digit plus metapodial segment",
+ "skeletal element",
"regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "limb segment",
- "musculoskeletal system",
- "immune system",
- "decreased embryo development",
- "manus morphology phenotype",
+ "zeugopod",
"regulation of biosynthetic process phenotype",
- "growth phenotype",
- "embryo development rate phenotype",
- "organ system subdivision",
- "forelimb skeleton",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Abnormality of chromosome stability",
"negative regulation of macromolecule metabolic process phenotype",
- "decreased size of the organism subdivision",
+ "increased size of the renal pelvis",
+ "homeostatic process",
+ "appendage girdle complex",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
+ "organ phenotype",
+ "decreased length of manual digit",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "dilated renal pelvis",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "subdivision of skeleton",
"endochondral bone",
- "Abnormality of chromosome stability",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "localised testis",
+ "musculoskeletal system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "decreased length of endochondral bone",
+ "Eukaryota",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
+ "Phenotypic abnormality",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Abnormality of the urinary system physiology",
+ "bone element phenotype",
+ "pectoral complex",
+ "multi-limb segment region phenotype",
+ "regulation of macromolecule metabolic process",
"upper limb segment phenotype",
- "biological_process phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "closing of the subdivision of tube",
+ "skeleton of limb",
"negative regulation of cellular process phenotype",
- "autopodial extension phenotype",
- "increased pigmentation",
- "Short thumb",
- "musculature of body phenotype",
+ "decreased size of the autopodial extension",
+ "musculature of manus",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "orifice atresia",
+ "appendicular skeleton",
"upper limb segment",
+ "external soft tissue zone phenotype",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "embryo phenotype",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "Anal atresia",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "thenar eminence hypoplasia",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "palmar part of manus",
+ "Abnormal large intestine morphology",
"Aplasia/hypoplasia involving the skeleton",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "limb bone phenotype",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "skeleton of limb phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
"arm",
- "Abnormal cell morphology",
- "decreased length of manual digit 1 or 5",
- "skin of body phenotype",
- "appendicular skeletal system",
- "material anatomical entity",
- "limb segment phenotype",
- "Macule",
- "biological_process rate phenotype",
- "pectoral appendage phenotype",
- "bone marrow cell",
+ "trunk region element physiology phenotype",
+ "male reproductive organ phenotype",
+ "autopodial extension phenotype",
"manual digit",
- "Abnormality of limbs",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "decreased size of the manual digit",
- "subdivision of organism along appendicular axis",
- "appendage girdle complex",
+ "Abnormal cardiovascular system morphology",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "late embryo phenotype",
+ "regulation of cellular process phenotype",
+ "forelimb zeugopod",
+ "Abnormal appendicular skeleton morphology",
"multicellular organism",
- "embryo development",
- "endochondral element",
- "digitopodium region",
- "anatomical system",
- "decreased qualitatively multicellular organismal process",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "decreased size of the ectoderm-derived structure",
- "digit",
- "regulation of cellular process",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "material entity",
- "camera-type eye",
- "pectoral appendage",
- "manual digitopodium region",
- "vision/eye phenotype",
- "digit 1 or 5",
- "bone of appendage girdle complex",
- "paired limb/fin",
- "cell",
- "immune system phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "muscle organ morphology phenotype",
+ "autopod region phenotype",
"material anatomical entity phenotype",
- "camera-type eye phenotype",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "Hypoplasia of the radius",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "regulation of biological process",
"digit 1 phenotype",
- "multicellular anatomical structure phenotype",
- "bone of free limb or fin phenotype",
- "forelimb",
- "digit phenotype",
- "bone cell",
- "decreased length of multicellular anatomical structure",
+ "lateral structure",
"mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "closing of the multicellular anatomical structure",
+ "organ system subdivision",
+ "thenar eminence phenotype",
+ "musculature",
+ "Abnormality of the thenar eminence",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical conduit phenotype",
+ "taxon specific phenotype",
+ "Abnormal rectum morphology",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "musculature of limb",
+ "Abnormal cellular physiology",
+ "cardiovascular system",
+ "male reproductive system phenotype",
+ "aplastic manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "lower digestive tract",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of digestive tract",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "renal pelvis",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "system",
+ "regulation of gene expression phenotype",
+ "bone of appendage girdle complex phenotype",
+ "Abnormality of prenatal development or birth",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
"Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "forelimb skeleton",
+ "genitourinary system",
+ "renal pelvis phenotype",
+ "anatomical entity",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "Proximal placement of thumb",
+ "alimentary part of gastrointestinal system phenotype",
+ "pectoral appendage skeleton",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "manus",
+ "thenar eminence",
+ "Abnormality of limbs",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "multicellular organism morphology phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the musculature of the limbs",
+ "anatomical structure physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical conduit atresia",
+ "Deviation of finger",
+ "Abnormality of the skeletal system",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "Abnormal renal pelvis morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "Short stature",
"digit 1",
- "Growth delay",
+ "aplasia or hypoplasia of manual digit",
+ "Abnormality of the musculature",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "thoracic segment of trunk",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent organism subdivision",
"autopod region",
- "Abnormal limb bone morphology",
- "subdivision of head",
- "endochondral element phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "Short finger",
- "system",
- "limb endochondral element",
- "programmed DNA elimination by chromosome breakage",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "decreased length of mesoderm-derived structure",
+ "negative regulation of macromolecule metabolic process",
+ "abdominal segment element",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Deviation of the thumb",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "absent anatomical entity",
+ "process",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "intestine phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "limb segment phenotype",
+ "digit 1 or 5 phenotype",
+ "digestive system",
+ "anatomical entity morphology phenotype",
+ "obsolete cell",
+ "decreased length of long bone",
+ "programmed DNA elimination",
+ "spatial pattern of anatomical entity phenotype",
+ "subdivision of tube atresia",
+ "multi-limb segment region",
+ "digit",
"anatomical entity length phenotype",
- "sensory system phenotype",
- "face",
- "independent continuant",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "biological_process",
- "decreased length of autopodial extension",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "musculature of pectoral complex phenotype",
"decreased length of anatomical structure",
- "negative regulation of cellular process",
- "lateral structure",
- "obsolete cell",
- "autopodial skeleton",
- "bone of appendage girdle complex phenotype",
+ "musculature of manus phenotype",
+ "trunk",
+ "Abnormality of the musculature of the hand",
+ "appendage musculature",
+ "manus morphology phenotype",
+ "musculature of upper limb phenotype",
+ "Abnormality of the musculature of the upper limbs",
+ "compound organ physiology phenotype",
+ "Small thenar eminence",
+ "abdomen element physiology phenotype",
+ "pectoral appendage musculature phenotype",
+ "digit 1 plus metapodial segment",
+ "Abnormal renal physiology",
+ "Intestinal atresia",
+ "arm bone",
+ "kidney physiology phenotype",
+ "radius endochondral element",
+ "anatomical system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "localised anatomical structure",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "cavitated compound organ physiology phenotype",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "Chronic kidney disease",
+ "renal system phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "body proper",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "male organism",
+ "renal system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "Renal insufficiency",
+ "Abnormality of the kidney",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the cardiovascular system",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "absent autopodial extension",
+ "Fetal ultrasound soft marker",
+ "closing of the material anatomical entity",
+ "circulatory system",
+ "subdivision of organism along main body axis",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "lateral structure physiology phenotype",
+ "renal system",
+ "digestive system morphology phenotype",
+ "Abnormality of the urinary system",
+ "renal/urinary system phenotype",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "upper urinary tract phenotype",
"decreased length of digit 1 or 5",
- "developmental process rate phenotype",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "testis phenotype",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "structure with developmental contribution from neural crest",
+ "Abnormality of the hand",
+ "radius bone",
+ "heart",
+ "Limb undergrowth",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
+ "decreased size of the material anatomical entity",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "Hydronephrosis",
"decreased length of organism subdivision",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormal testis morphology",
+ "cardiovascular system phenotype",
+ "decreased size of the bone of free limb or fin",
"specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb skeleton subdivision phenotype",
- "regulation of metabolic process phenotype",
- "musculature phenotype",
+ "decreased length of arm bone",
+ "decreased size of the limb bone",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "forelimb zeugopod bone",
+ "decreased length of manual digit 1 or 5",
+ "decreased length of multicellular anatomical structure",
+ "kidney",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "appendage musculature phenotype",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "bone of pectoral complex morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "organ",
"decreased size of the anatomical structure",
- "developmental process",
- "multicellular organism morphology phenotype",
"decreased size of the material anatomical entity in the pectoral complex",
- "manual digit 1 or 5",
- "developmental process phenotype",
- "quality",
- "Abnormal cellular phenotype",
- "decreased multicellular organism development",
- "organ phenotype",
- "skeleton",
- "musculature",
- "skeletal system",
- "decreased size of the digit",
- "anatomical entity morphology in the manus phenotype",
- "decreased size of the anatomical entity",
- "musculoskeletal system phenotype",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "manual digit 1 morphology phenotype",
- "Abnormality of the integument",
- "appendage",
- "decreased size of the material anatomical entity",
- "lateral structure phenotype",
- "biological regulation",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "bone of free limb or fin",
- "subdivision of skeleton phenotype",
- "Abnormality of head or neck",
- "decreased multicellular organismal process",
- "anatomical collection phenotype",
- "homeostatic process phenotype",
- "organism subdivision",
- "Abnormality of limb bone",
- "arm phenotype",
- "Abnormal bone marrow cell morphology",
- "Abnormality of blood and blood-forming tissues",
+ "decreased size of the endochondral element",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "deviation of anatomical entity",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "increased size of the anatomical structure",
+ "primary circulatory organ",
+ "localised organ",
+ "thoracic segment organ",
+ "renal pelvis/ureter",
+ "phenotype",
+ "Fetal pyelectasis",
+ "embryonic development/birth phenotype",
+ "Abnormal fetal genitourinary system morphology",
+ "organ part",
+ "external genitalia phenotype",
+ "multicellular organism phenotype",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "Abnormal renal morphology",
+ "increased size of the organ part",
+ "Fetal anomaly",
+ "renal pelvis morphology phenotype",
+ "anatomical cluster",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "decreased length of digit",
+ "anatomical conduit",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Dilatation of the renal pelvis",
+ "Gastrointestinal atresia",
+ "late embryo",
+ "limb",
+ "increased size of the anatomical entity",
+ "increased size of the material anatomical entity",
+ "biological_process",
+ "genitourinary system phenotype",
+ "dilated anatomical entity",
+ "embryo",
+ "increased size of the anatomical conduit",
+ "anus atresia",
+ "Short long bone",
+ "reproductive organ",
+ "Abnormal fetal morphology",
+ "increased size of the multicellular anatomical structure",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the genital system",
+ "testis",
+ "large intestine morphology phenotype",
+ "localised reproductive structure",
+ "reproductive system phenotype",
+ "Cryptorchidism",
+ "heart plus pericardium",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "reproductive structure phenotype",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "external genitalia",
"disconnected anatomical group",
- "programmed DNA elimination by chromosome breakage phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "anatomical structure development",
- "Intrauterine growth retardation",
+ "male reproductive organ",
+ "gonad phenotype",
+ "reproductive structure",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
+ "external male genitalia phenotype",
+ "decreased size of the organism subdivision",
+ "anterior region of body",
+ "decreased length of manual digit 1",
+ "rectum phenotype",
+ "paired limb/fin",
+ "decreased size of the digit",
+ "Short thumb",
+ "Short digit",
+ "decreased size of the forelimb bone",
+ "deviation of manual digit 1",
+ "Abnormal morphology of the radius",
+ "Deviation of the hand or of fingers of the hand",
+ "deviation of manual digit",
+ "Growth abnormality",
+ "cardiovascular system morphology phenotype",
+ "decreased size of the skeletal element",
+ "reproductive organ phenotype",
+ "viscus",
+ "circulatory organ",
+ "heart morphology phenotype",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "tube",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "arm bone phenotype",
+ "delayed growth",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased size of the multicellular organism",
+ "regulation of cellular process",
+ "decreased height of the anatomical entity",
+ "growth phenotype",
"Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "increased qualitatively biological_process",
- "Aplasia/Hypoplasia affecting the eye",
- "skin of body morphology phenotype",
- "decreased qualitatively biological_process",
- "programmed DNA elimination",
- "occurrent",
- "Chromosomal breakage induced by crosslinking agents",
- "decreased biological_process",
- "anatomical structure development phenotype",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
"growth",
- "decreased anatomical structure development",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "Short digit",
- "embryo development phenotype",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organismal process phenotype",
- "decreased length of anatomical entity",
- "decreased developmental process",
- "Abnormality of the eye",
- "decreased qualitatively embryo development",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "bone marrow",
- "multicellular organism development phenotype",
- "decreased qualitatively multicellular organism development",
- "decreased qualitatively developmental process",
- "digit 1 plus metapodial segment",
- "limb bone morphology phenotype",
- "integumental system phenotype",
],
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0010953",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "name": "Fanconi anemia complementation group E",
+ "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "xref": [
+ "DOID:0111084",
+ "GARD:15324",
+ "MEDGEN:463628",
+ "NCIT:C125709",
+ "OMIM:600901",
+ "UMLS:C3160739",
+ ],
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia",
+ "FANCE",
+ "FANCE Fanconi anaemia",
+ "FANCE Fanconi anemia",
+ "Fanconi Anemia, complementation group type E",
+ "Fanconi anaemia caused by mutation in FANCE",
+ "Fanconi anaemia complementation group type E",
+ "Fanconi anemia caused by mutation in FANCE",
+ "Fanconi anemia complementation group E",
+ "Fanconi anemia complementation group type E",
+ "Fanconi anemia, complementation group E",
+ "face",
],
"namespace": "MONDO",
"has_phenotype": [
"HP:0001875",
+ "HP:0009777",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0000104",
+ "HP:0001017",
+ "HP:0001876",
+ "HP:0000028",
+ "HP:0003974",
"HP:0001873",
- "HP:0005528",
- "HP:0006254",
+ "HP:0009778",
+ "HP:0001896",
+ "HP:0000568",
+ "HP:0001518",
+ "HP:0001263",
"HP:0003221",
+ "HP:0009943",
+ "HP:0000978",
+ "HP:0001627",
+ "HP:0000953",
+ "HP:0000957",
"HP:0001903",
+ "HP:0001909",
+ "HP:0000081",
"HP:0004322",
- "HP:0000252",
+ "HP:0000486",
+ "HP:0000365",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000085",
],
"has_phenotype_label": [
"Neutropenia",
+ "Absent thumb",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Renal agenesis",
+ "Anemic pallor",
+ "Pancytopenia",
+ "Cryptorchidism",
+ "Absent radius",
"Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
+ "Short thumb",
+ "Reticulocytopenia",
+ "Microphthalmia",
+ "Small for gestational age",
+ "Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
+ "Complete duplication of thumb phalanx",
+ "Bruising susceptibility",
+ "Abnormal heart morphology",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
"Anemia",
+ "Leukemia",
+ "Duplicated collecting system",
"Short stature",
- "Microcephaly",
+ "Strabismus",
+ "Hearing impairment",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Horseshoe kidney",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 32,
"has_phenotype_closure": [
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- "UPHENO:0075195",
- "UPHENO:0069327",
- "CL:0000766",
- "HP:0000002",
+ "HP:0001574",
+ "HP:0011121",
+ "UPHENO:0025497",
+ "UBERON:0001690",
+ "UBERON:0015410",
+ "UPHENO:0002736",
+ "UPHENO:0086173",
+ "HP:0012145",
+ "UPHENO:0053647",
+ "UPHENO:0066902",
+ "UPHENO:0026098",
+ "HP:0011875",
+ "CL:0000458",
+ "UPHENO:0084761",
+ "HP:0001872",
+ "CL:0000457",
+ "HP:0004275",
+ "UBERON:0010314",
+ "UPHENO:0053633",
+ "HP:0001873",
+ "UPHENO:0002803",
+ "UBERON:0005172",
+ "UPHENO:0053572",
+ "UBERON:0000473",
+ "UPHENO:0076941",
+ "UPHENO:0002764",
+ "UPHENO:0002597",
+ "HP:0000811",
+ "UPHENO:0002682",
+ "HP:0000035",
+ "HP:0001876",
+ "HP:0000118",
+ "UPHENO:0024906",
+ "UPHENO:0002940",
+ "HP:0001871",
+ "UBERON:0000079",
+ "UPHENO:0053610",
+ "UBERON:0004176",
+ "HP:0005918",
+ "HP:0012243",
+ "HP:0000032",
+ "UPHENO:0079826",
+ "UBERON:0004122",
+ "UPHENO:0002595",
+ "HP:0009823",
+ "UPHENO:0010763",
+ "UPHENO:0025955",
+ "UPHENO:0025545",
+ "HP:0005927",
+ "UPHENO:0026486",
+ "UPHENO:0002738",
+ "UPHENO:0006894",
+ "UBERON:0001423",
+ "UPHENO:0009295",
+ "HP:0003953",
+ "UPHENO:0026023",
+ "UPHENO:0011563",
+ "UPHENO:0002750",
+ "UPHENO:0026317",
+ "UPHENO:0086956",
+ "UPHENO:0009341",
+ "UPHENO:0079872",
+ "UBERON:0004535",
+ "HP:0009142",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0013702",
+ "UPHENO:0080187",
+ "UPHENO:0069254",
+ "UBERON:0000949",
+ "UBERON:0003466",
+ "HP:0040070",
+ "GO:0006725",
+ "UPHENO:0087501",
+ "HP:0004377",
+ "UPHENO:0008709",
+ "UPHENO:0002594",
+ "UPHENO:0086019",
+ "UPHENO:0026312",
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
+ "3-D shape anatomical entity",
+ "shape anatomical entity",
+ "Horseshoe kidney",
+ "response to stress",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
+ "interphase",
+ "ear",
+ "sensory perception",
+ "decreased sensory perception",
+ "decreased nervous system process",
+ "decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
+ "decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
+ "anatomical line",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "eye physiology phenotype",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of eye movement",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
+ "size of multicellular organism phenotype",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
+ "Duplicated collecting system",
+ "Neoplasm",
+ "Leukemia",
+ "neoplasm phenotype",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Macule",
+ "biological_process rate phenotype",
+ "increased qualitatively biological_process",
+ "Hyperpigmentation of the skin",
+ "Abnormal heart morphology",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "Abnormality of the cardiovascular system",
+ "anatomical cluster phenotype",
+ "Generalized abnormality of skin",
+ "Vascular skin abnormality",
+ "vasculature",
+ "pigmentation",
+ "Abnormal finger phalanx morphology",
+ "Duplication of thumb phalanx",
+ "Complete duplication of thumb phalanx",
+ "manual digit 1 phalanx",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
+ "phalanx",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "pigmentation phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "DNA metabolic process",
+ "negative regulation of macromolecule metabolic process",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
+ "Chromosomal breakage induced by crosslinking agents",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Neurodevelopmental delay",
+ "multicellular organism mass phenotype",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
+ "camera-type eye",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the eye",
+ "face phenotype",
+ "orbital region",
+ "sense organ",
+ "Microphthalmia",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
+ "eyeball of camera-type eye phenotype",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
+ "enucleated reticulocyte morphology phenotype",
+ "decreased length of digit 1",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of autopodial extension",
+ "decreased size of the material anatomical entity",
+ "Short thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of manual digit",
+ "decreased length of anatomical structure",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "decreased size of the anatomical entity",
+ "decreased length of organism subdivision",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of radius bone",
+ "forelimb zeugopod bone phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "absent forelimb zeugopod bone",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "absent bone element in the limb",
+ "forelimb zeugopod morphology phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent long bone",
+ "bone of pectoral complex morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "Abnormal forearm bone morphology",
+ "absent radius bone in the forelimb",
+ "bone of pectoral complex phenotype",
+ "limb long bone morphology phenotype",
+ "absent endochondral bone in the forelimb",
+ "absent limb endochondral element in the limb",
+ "delayed growth",
+ "arm bone phenotype",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "cellular process",
+ "long bone morphology phenotype",
+ "absent endochondral element",
+ "absent organ in the limb",
+ "Aplasia/Hypoplasia of the radius",
+ "vestibulo-auditory system",
+ "absent limb endochondral element",
+ "absent limb bone",
+ "forelimb bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "Absent forearm bone",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "absent bone element",
+ "Abnormal morphology of the radius",
+ "Reticulocytopenia",
+ "absent forelimb bone in the limb",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "forelimb long bone phenotype",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "radius bone phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "regulation of biosynthetic process phenotype",
+ "zeugopod",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nervous system physiology phenotype",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased functionality of the gonad",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "subdivision of head",
+ "absent mesoderm-derived structure in the forelimb",
+ "appendage girdle complex",
+ "digit phenotype",
+ "Renal hypoplasia/aplasia",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "kinesthetic behavior",
"Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "Duplication of hand bones",
+ "nervous system process",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "decreased size of the anatomical structure",
+ "organ",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "manual digit 1 phalanx endochondral element",
+ "tissue",
+ "forelimb zeugopod bone morphology phenotype",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased multicellular organismal process",
"root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
+ "localised testis",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
+ "anterior region of body",
+ "cardiovascular system",
+ "absent skeletal element",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "multi-limb segment region",
+ "manual digit plus metapodial segment",
+ "digit 1 plus metapodial segment",
+ "anatomical entity length phenotype",
+ "digit",
+ "digit 1 or 5 phenotype",
+ "Abnormal digit morphology",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "limb",
+ "cell",
+ "absent anatomical entity in the renal system",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "absent skeletal element in the forelimb",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
+ "absent organism subdivision",
+ "Neurodevelopmental abnormality",
+ "manus phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "axial skeleton plus cranial skeleton",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "absent mesoderm-derived structure",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "skeleton of manus",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "autopodial extension phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "G2 phase",
"nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
- "organ phenotype",
- "Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
+ "All",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "paired limb/fin segment phenotype",
+ "absent anatomical structure in the forelimb",
+ "acropodium region",
+ "Intellectual disability",
+ "bone marrow",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "arm phenotype",
+ "hematopoietic system",
+ "agenesis of anatomical entity",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "absent kidney",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "arm",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "manual digit",
+ "limb bone morphology phenotype",
+ "Abnormal skeletal morphology",
+ "anatomical system",
+ "absent anatomical structure in the limb",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "decreased size of the sense organ",
+ "anatomical collection phenotype",
+ "quality",
+ "decreased number of platelet",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased number of anatomical entity",
+ "Abnormal cellular phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
+ "musculature",
"regional part of brain",
- "central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
- "Phenotypic abnormality",
+ "Abnormality of limbs",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "skeletal element",
+ "taxon specific phenotype",
+ "granulocyte morphology phenotype",
+ "biological phase",
+ "autopod bone",
"mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
+ "cell phenotype",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "anatomical entity morphology phenotype",
+ "Abnormal localization of kidney",
+ "size of skull phenotype",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "circulatory system",
+ "bone marrow cell",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "eye phenotype",
+ "Abnormal cellular immune system morphology",
+ "absent multicellular anatomical structure in the limb",
+ "endocrine system phenotype",
+ "multicellular organism morphology phenotype",
"skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
"number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
- "negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "skeleton",
+ "Abnormal bleeding",
"immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
+ "decreased functionality of the organ",
+ "aplasia or hypoplasia of manual digit 1",
+ "reproductive system physiology phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "absent autopodial extension",
+ "hematopoietic system phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "skeleton of pectoral complex",
+ "eukaryotic cell",
"Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
+ "specifically dependent continuant",
+ "arm bone",
+ "Abnormal myeloid leukocyte morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "structure with developmental contribution from neural crest phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "immune system",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
+ "Prolonged G2 phase of cell cycle",
+ "pectoral appendage skeleton",
+ "Abnormality of skin pigmentation",
"phenotypic effect",
+ "size of anatomical entity phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "organ physiology phenotype",
+ "Abnormal cell morphology",
+ "phenotype",
+ "limb endochondral element",
+ "digit plus metapodial segment",
+ "skeletal system phenotype",
+ "absent anatomical entity",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "Complete duplication of phalanx of hand",
+ "limb bone",
+ "granulocyte",
+ "bone of appendage girdle complex phenotype",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "shape kidney",
+ "ectoderm-derived structure physiology phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "neutrophil phenotype",
+ "external male genitalia",
+ "aplasia or hypoplasia of skeleton",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
+ "localised multicellular anatomical structure",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "absent bone of appendage girdle complex in the limb",
"number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
- "negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
+ "number of leukocyte phenotype",
+ "platelet",
+ "decreased length of digit 1 or 5",
"hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
- "biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
+ "manual digit phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "DNA metabolic process phenotype",
+ "multi-limb segment region phenotype",
+ "hemolymphoid system",
"decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "Abnormal nervous system physiology",
+ "Abnormality of the immune system",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical structure mass phenotype",
+ "multicellular organism",
+ "decreased functionality of the anatomical structure",
+ "Thrombocytopenia",
+ "leukocyte",
+ "increased biological_process in skin of body",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cellular response to stimulus phenotype",
+ "absent bone element in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent anatomical entity in the forelimb",
+ "multicellular anatomical structure",
+ "primary metabolic process",
+ "Abnormality of the skin",
+ "forelimb endochondral element",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "cell cycle",
+ "pectoral complex",
+ "decreased size of the manual digit",
+ "trunk region element",
+ "absent limb long bone in the forelimb",
+ "Anemic pallor",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
+ "Microcephaly",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "decreased size of the autopodial extension",
+ "absent bone of pectoral complex in the limb",
+ "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "absent trunk region element in the renal system",
"continuant",
+ "paired limb/fin phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "musculature of body",
+ "camera-type eye phenotype",
+ "manus",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "integument phenotype",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "anatomical entity morphology in the manus phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "anatomical structure",
+ "localised trunk region element",
+ "absent lateral structure",
+ "Anemia",
+ "manus bone",
+ "Abnormality of the hand",
+ "radius bone",
+ "Subcutaneous hemorrhage",
+ "absent organism subdivision in the multicellular organism",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "limb segment",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "forelimb morphology phenotype",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "subdivision of organism along appendicular axis",
+ "absent anatomical structure in the multicellular organism",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "autopodial skeleton",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
+ "multicellular organism phenotype",
+ "external genitalia phenotype",
+ "system process",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "reproductive structure physiology phenotype",
+ "behavior phenotype",
+ "forelimb zeugopod bone",
+ "nervous system",
+ "renal system",
+ "endochondral bone phenotype",
+ "cognition",
+ "absent abdominal segment element",
+ "localised anatomical structure",
+ "simple eye phenotype",
+ "abdomen element",
+ "absent anatomical structure",
+ "localised kidney",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent cavitated compound organ",
+ "Abnormal renal morphology",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "renal system phenotype",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "renal collecting system",
+ "immune system morphology phenotype",
+ "Ectopic kidney",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
+ "absent endochondral bone",
+ "localised organ",
+ "body proper",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
+ "Short digit",
+ "absent multicellular anatomical structure in the renal system",
+ "eye",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "Irregular hyperpigmentation",
+ "male organism",
"negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormal granulocyte count",
+ "skin of body phenotype",
+ "Abnormality of the kidney",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "excretory system",
"subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
+ "Abnormal conjugate eye movement",
+ "renal/urinary system phenotype",
+ "forelimb bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "upper urinary tract phenotype",
+ "integument",
+ "platelet phenotype",
+ "biological_process",
+ "genitourinary system phenotype",
+ "decreased length of digit",
+ "manual digitopodium region",
"Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "Growth delay",
+ "kidney",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "organic substance metabolic process",
+ "heart",
"Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
+ "limb long bone phenotype",
+ "multi-tissue structure",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "absent arm bone",
+ "reproductive organ",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "Abnormality of body weight",
"aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
- "oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
+ "decreased size of the multicellular organism",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "craniocervical region",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "subdivision of organism along main body axis phenotype",
"regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
+ "system",
+ "brain morphology phenotype",
+ "forelimb skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "decreased length of manual digit 1 or 5",
+ "decreased functionality of the multicellular anatomical structure",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
"erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- ],
- },
- {
- "id": "MONDO:0013565",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group G",
- "description": "Fanconi anemia caused by mutations of the FANCG gene.",
- "provided_by": "phenio_nodes",
- "xref": [
- "DOID:0111086",
- "GARD:15753",
- "MEDGEN:854017",
- "NCIT:C125708",
- "OMIM:614082",
- "UMLS:C3469527",
- ],
- "synonym": [
- "FANCG",
- "Fanconi Anemia, complementation group type G",
- "Fanconi anaemia complementation group type G",
- "Fanconi anemia complementation group G",
- "Fanconi anemia complementation group type G",
- "Fanconi anemia, complementation group G",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001875",
- "HP:0002863",
- "HP:0001510",
- "HP:0001873",
- "HP:0007565",
- "HP:0000568",
- "HP:0001172",
- "HP:0001903",
- "HP:0003220",
- "HP:0001909",
- "HP:0000252",
- ],
- "has_phenotype_label": [
- "Neutropenia",
- "Myelodysplasia",
- "Growth delay",
- "Thrombocytopenia",
- "Multiple cafe-au-lait spots",
- "Microphthalmia",
- "Abnormal thumb morphology",
- "Anemia",
+ "telencephalon",
+ "head phenotype",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Abnormal brain morphology",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "Abnormality of the genital system",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "myeloid leukocyte phenotype",
+ "forebrain",
+ "gonad physiology phenotype",
+ "nucleate cell",
+ "reproductive structure phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "limb endochondral element phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "absent arm bone in the forelimb",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "absent lateral structure in the renal system",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "gonad phenotype",
+ "immaterial entity",
"Abnormality of chromosome stability",
- "Leukemia",
- "Microcephaly",
- ],
- "has_phenotype_count": 11,
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0009121",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "HP:0000252",
- "UBERON:0011138",
- "UBERON:0011137",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0001016",
- "UPHENO:0004802",
- "UBERON:0001890",
- "HP:0000240",
- "UPHENO:0049904",
- "HP:0001939",
- "GO:0008152",
- "GO:0042592",
- "UPHENO:0088170",
- "CL:0000764",
- "UPHENO:0088162",
- "UPHENO:0080200",
- "UBERON:0010707",
- "UPHENO:0002586",
- "UPHENO:0002983",
- "UBERON:0010323",
- "UBERON:0002529",
- "UBERON:0001460",
- "UBERON:0010740",
- "UBERON:0004710",
- "UPHENO:0003065",
- "UPHENO:0002559",
- "UPHENO:0003227",
- "UBERON:0000075",
- "UPHENO:0002945",
- "UBERON:0002101",
- "UBERON:0019221",
- "UBERON:0005944",
- "UPHENO:0084763",
- "HP:0001909",
- "UBERON:0012141",
- "UPHENO:0003799",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0040068",
- "UPHENO:0003005",
- "UPHENO:0002593",
- "UPHENO:0002736",
- "HP:0001167",
- "UBERON:0010538",
- "UBERON:0006058",
- "UBERON:5006048",
- "UPHENO:0003095",
- "UBERON:0000026",
- "UPHENO:0003069",
- "UPHENO:0002632",
- "UPHENO:0004909",
- "UPHENO:0003812",
- "UPHENO:0002746",
- "UBERON:0010712",
- "HP:0002977",
- "RO:0002577",
- "HP:0001155",
- "UPHENO:0087006",
- "UBERON:0002428",
- "UPHENO:0002648",
- "UPHENO:0002896",
- "UPHENO:0002870",
- "UPHENO:0002708",
- "UBERON:0012140",
- "UBERON:0010912",
- "UPHENO:0084448",
- "CL:0000151",
- "UPHENO:0074575",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "BFO:0000003",
- "UBERON:0000467",
- "HP:0011017",
- "BFO:0000015",
- "GO:0008150",
- "UPHENO:0000541",
- "HP:0012639",
- "CL:0000775",
- "HP:0001507",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010974",
- "UBERON:0002405",
- "HP:0033127",
- "UBERON:0002097",
- "UBERON:5001463",
- "UPHENO:0003415",
- "UPHENO:0063787",
- "UBERON:0000062",
- "UPHENO:0004064",
- "HP:0001877",
- "HP:0007400",
- "HP:0002060",
- "UBERON:0001062",
- "UPHENO:0005214",
- "UPHENO:0003410",
- "HP:0000118",
- "UBERON:0006048",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002944",
- "UPHENO:0002910",
- "HP:0001871",
- "CL:0000255",
- "CL:0000738",
- "UPHENO:0001001",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0088176",
- "UPHENO:0050008",
- "HP:0000271",
- "UPHENO:0002963",
- "UBERON:0001017",
- "HP:0001903",
- "UBERON:0034925",
- "UBERON:0002398",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0086172",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0075804",
- "CL:0000232",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "UPHENO:0074584",
- "UBERON:0000019",
- "HP:0001874",
- "UPHENO:0004459",
- "HP:0007364",
- "CL:0000233",
- "UBERON:0001893",
- "UPHENO:0079876",
- "UBERON:0000061",
- "CL:0000766",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0077373",
- "BFO:0000004",
- "HP:0004377",
- "HP:0000152",
- "UPHENO:0086176",
- "BFO:0000002",
- "UBERON:0002090",
- "UBERON:0000047",
- "CL:0000225",
- "CL:0000094",
- "UPHENO:0002530",
- "CL:0000988",
- "UPHENO:0002525",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CL:0000763",
- "UBERON:0002389",
- "HP:0005561",
- "UBERON:0004765",
- "CL:0000457",
- "UPHENO:0086700",
- "HP:0001881",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "UPHENO:0085356",
- "HP:0011873",
- "UPHENO:0005058",
- "CL:0002242",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "UPHENO:0002764",
+ "anatomical entity dysfunction in independent continuant",
+ "Neutropenia",
+ "reproductive structure",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "neutrophil",
+ "absent abdomen element",
+ "decreased number of anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "number of anatomical enitites of type organ phenotype",
+ "Duplication of phalanx of hand",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent organ",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "biological regulation",
+ "Global developmental delay",
+ "abdominal segment of trunk",
+ "absent trunk region element",
+ "Renal agenesis",
+ "motile cell",
+ "absent abdominal segment element in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent organ in the renal system",
+ "digit morphology phenotype",
+ "absent abdomen element in the renal system",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "absent compound organ",
+ "oxygen accumulating cell",
+ "Abnormality of the integument",
+ "erythroid lineage cell morphology phenotype",
+ "sensory perception of mechanical stimulus",
+ "Abnormal upper limb bone morphology",
+ "skin of body",
+ "integumental system",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "Abnormal skin morphology",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "absent bone of appendage girdle complex",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "testis",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "testis phenotype",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "absent forelimb bone in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "forelimb long bone",
+ "serotonin secreting cell",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "radius endochondral element",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "Aplasia involving bones of the upper limbs",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "absent limb endochondral element in the forelimb",
+ "regulation of biological process phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "absent anatomical structure in the skeletal system",
+ ],
+ },
+ {
+ "id": "MONDO:0012187",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group J",
+ "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
+ "provided_by": "phenio_nodes",
+ "xref": [
+ "DOID:0111097",
+ "GARD:15449",
+ "MEDGEN:323015",
+ "MESH:C563801",
+ "NCIT:C129027",
+ "OMIM:609054",
+ "UMLS:C1836860",
+ ],
+ "synonym": [
+ "FANCJ",
+ "Fanconi Anemia, complementation group type J",
+ "Fanconi anaemia complementation group type J",
+ "Fanconi anemia complementation group J",
+ "Fanconi anemia complementation group type J",
+ "Fanconi anemia, complementation group J",
+ ],
+ "namespace": "MONDO",
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+ "Short thumb",
+ "Bone marrow hypocellularity",
+ "Intrauterine growth retardation",
+ "Multiple cafe-au-lait spots",
+ "Microphthalmia",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ ],
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"has_phenotype_closure_label": [
- "nervous system",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "skull",
- "cranial skeletal system phenotype",
- "regional part of brain phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "skull phenotype",
- "regional part of nervous system phenotype",
- "postcranial axial skeleton",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Eukaryota",
- "multi-tissue structure phenotype",
- "central nervous system",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "Leukemia",
- "Abnormal cellular physiology",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of cellular biosynthetic process",
"metabolic process",
+ "negative regulation of cellular metabolic process",
+ "Chromosome breakage",
+ "negative regulation of biological process phenotype",
"homeostatic process",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "oxygen accumulating cell",
- "brain",
- "erythrocyte",
- "skeleton phenotype",
- "arm phenotype",
- "anatomical collection phenotype",
- "manual digit 1 morphology phenotype",
- "anatomical entity morphology in the manus phenotype",
- "subdivision of skeletal system phenotype",
- "limb skeleton subdivision phenotype",
- "obsolete cell",
- "bone of appendage girdle complex phenotype",
- "manual digitopodium region",
- "limb morphology phenotype",
- "paired limb/fin skeleton",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Chromosomal breakage induced by crosslinking agents",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
"Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "limb segment phenotype",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "paired limb/fin phenotype",
- "manus phenotype",
- "subdivision of skeleton",
- "autopod region phenotype",
- "Abnormality of the hand",
- "autopod region morphology phenotype",
- "paired limb/fin segment",
- "multi-limb segment region",
- "autopodial extension",
- "digit plus metapodial segment",
- "appendage phenotype",
- "Abnormal finger morphology",
- "limb bone",
- "skeleton of limb",
- "manus",
- "limb endochondral element phenotype",
- "forebrain morphology phenotype",
- "endochondral bone phenotype",
- "segment of autopod",
- "upper limb segment",
- "platelet",
- "digit 1 or 5 phenotype",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "Abnormality of globe size",
- "system",
- "Thrombocytopenia",
- "biological_process",
- "Abnormality of the orbital region",
- "occurrent",
- "Growth delay",
- "ectoderm-derived structure",
- "cellular organisms",
- "pectoral complex",
- "Myelodysplasia",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "Abnormal digit morphology",
- "digit 1",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "growth phenotype",
- "manus morphology phenotype",
- "musculature of body",
- "bone element",
- "skeletal system",
- "camera-type eye morphology phenotype",
- "neutrophil phenotype",
- "digitopodium region",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "specifically dependent continuant",
- "limb endochondral element",
- "decreased number of anatomical structure",
- "subdivision of organism along appendicular axis phenotype",
- "decreased number of cell",
- "paired limb/fin segment phenotype",
- "organ system subdivision phenotype",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "number of anatomical enitites of type neutrophil phenotype",
- "increased qualitatively biological_process",
- "Neutropenia",
- "forelimb",
- "Abnormal cellular phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "blood cell phenotype",
- "hematopoietic system",
- "neoplasm phenotype",
- "Microphthalmia",
- "manual digit 1 or 5",
- "bone cell",
- "visual system phenotype",
- "digit phenotype",
- "delayed growth",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "biological regulation phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "programmed DNA elimination",
+ "nervous system",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the nervous system",
+ "anatomical entity physiology phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "Global developmental delay",
+ "camera-type eye",
+ "Abnormality of head or neck",
+ "Abnormality of the face",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "craniocervical region phenotype",
+ "main body axis",
+ "subdivision of organism along main body axis",
+ "Abnormality of the orbital region",
+ "regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "camera-type eye morphology phenotype",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "Abnormality of globe size",
+ "face phenotype",
+ "head morphology phenotype",
+ "orbital region",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region",
+ "body proper",
+ "Abnormal nervous system physiology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "eyeball of camera-type eye phenotype",
+ "visual system",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "Abnormality of the head",
+ "sense organ phenotype",
+ "simple eye",
+ "face morphology phenotype",
+ "homeostatic process phenotype",
+ "subdivision of head phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
"Irregular hyperpigmentation",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "skull morphology phenotype",
- "motile cell",
+ "ectoderm-derived structure phenotype",
+ "skin of body phenotype",
+ "pigmentation",
+ "Abnormality of the integument",
+ "endochondral element",
+ "organism subdivision phenotype",
+ "multi-limb segment region",
+ "digit 1 or 5 phenotype",
+ "limb segment phenotype",
+ "organism subdivision",
+ "vision/eye phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
"process",
- "serotonin secreting cell",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "head",
- "hemolymphoid system",
- "hematopoietic cell",
- "manual digit morphology in the manus phenotype",
- "number of anatomical enitites of type granulocyte phenotype",
- "Abnormality of the eye",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "pectoral appendage phenotype",
- "Abnormal leukocyte count",
- "Abnormal hand morphology",
- "secretory cell",
- "Aplasia/Hypoplasia involving the central nervous system",
+ "digit 1 plus metapodial segment",
+ "negative regulation of cellular process phenotype",
+ "decreased size of the autopodial extension",
+ "negative regulation of macromolecule biosynthetic process",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "regulation of biological process",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "integumental system",
+ "anatomical entity morphology in the manus phenotype",
+ "independent continuant",
+ "decreased multicellular organism development",
+ "decreased length of digit 1",
+ "decreased biological_process",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased size of the digit",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
+ "sense organ",
+ "anatomical system phenotype",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "bone of free limb or fin",
+ "digit morphology phenotype",
+ "musculature of body",
+ "Neurodevelopmental delay",
+ "pectoral appendage",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
"sensory system",
- "skeletal system phenotype",
- "skeletal element",
- "autopodial extension phenotype",
+ "multicellular organism morphology phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "manus",
+ "integument phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "bone marrow",
+ "acropodium region",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "limb bone phenotype",
+ "manual digit plus metapodial segment",
+ "protein-containing material entity",
+ "segment of manus",
+ "multicellular organismal process",
+ "limb bone",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormality of skin pigmentation",
+ "skeleton of limb",
+ "Abnormality of the skin",
+ "organ system subdivision phenotype",
+ "anatomical structure",
"musculature",
- "main body axis",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
- "continuant",
- "musculoskeletal system",
- "immune system",
- "limb segment",
- "material entity",
- "leukocyte",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "anatomical system phenotype",
- "tissue",
+ "developmental process rate phenotype",
+ "Abnormal digit morphology",
+ "anterior region of body",
+ "skeletal system",
+ "skin of body",
"Abnormality of the musculoskeletal system",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal limb bone morphology",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "forelimb phenotype",
+ "decreased length of manual digit 1",
+ "forelimb skeleton",
+ "autopod region phenotype",
"taxon specific phenotype",
- "Decreased head circumference",
- "independent continuant",
- "face",
- "sensory system phenotype",
+ "paired limb/fin phenotype",
+ "decreased length of anatomical structure",
+ "decreased developmental process",
+ "autopodial extension phenotype",
+ "Short finger",
+ "skeleton of manus",
+ "mesoderm-derived structure",
+ "paired limb/fin segment phenotype",
+ "developmental process phenotype",
+ "lateral structure",
+ "Short digit",
+ "upper limb segment",
+ "appendicular skeleton",
+ "Abnormal cellular physiology",
+ "forelimb morphology phenotype",
+ "limb segment",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "autopod region",
+ "biological_process",
+ "decreased size of the anatomical entity",
"Abnormality of the skeletal system",
- "Neoplasm",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "immune system morphology phenotype",
- "Abnormal cell morphology",
- "erythroid lineage cell",
- "Cafe-au-lait spot",
- "anatomical entity",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "decreased number of leukocyte",
- "Abnormal thumb morphology",
- "eye phenotype",
- "Abnormal granulocyte count",
- "decreased number of anatomical entity",
- "appendage",
- "Abnormality of the integument",
- "decreased size of the material anatomical entity",
- "sense organ phenotype",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "phenotype",
- "skeletal element phenotype",
- "Abnormal skeletal morphology",
+ "entire sense organ system",
+ "continuant",
+ "anatomical system physiology phenotype",
+ "tissue",
"delayed biological_process",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Abnormality of blood and blood-forming tissues",
- "craniocervical region morphology phenotype",
- "Abnormality of chromosome stability",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "decreased size of the sense organ",
- "endochondral bone",
- "anatomical entity phenotype",
- "multicellular organism phenotype",
- "multicellular anatomical structure",
- "material anatomical entity",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "endochondral element phenotype",
- "subdivision of head",
- "myeloid leukocyte phenotype",
- "autopod region",
- "Neoplasm by anatomical site",
- "anatomical structure",
- "Hematological neoplasm",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of skeleton phenotype",
- "bone of free limb or fin",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "orbital region",
- "digit morphology phenotype",
- "myeloid cell",
- "digit",
+ "manual digit morphology in the manus phenotype",
+ "limb skeleton subdivision",
+ "nervous system phenotype",
+ "increased qualitatively biological_process",
+ "anatomical collection",
+ "All",
+ "decreased length of material anatomical entity",
+ "decreased qualitatively biological_process",
+ "negative regulation of gene expression",
+ "Phenotypic abnormality",
+ "Abnormality of the hand",
+ "decreased size of the multicellular anatomical structure",
+ "decreased qualitatively embryo development",
+ "skeleton phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the organism subdivision",
+ "material anatomical entity",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "manual digit 1",
+ "manus phenotype",
+ "paired limb/fin",
+ "specifically dependent continuant",
+ "growth",
+ "Abnormal thumb morphology",
"decreased size of the ectoderm-derived structure",
- "musculature of body phenotype",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "number of leukocyte phenotype",
+ "subdivision of organism along appendicular axis",
+ "multicellular organism development phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "multicellular organismal process phenotype",
+ "manual digitopodium region",
+ "Abnormal eye morphology",
+ "manual digit",
+ "pectoral appendage skeleton",
+ "quality",
+ "decreased length of multicellular anatomical structure",
+ "Growth delay",
+ "Abnormal limb bone morphology",
+ "manus morphology phenotype",
+ "material anatomical entity phenotype",
+ "decreased length of digit 1 or 5",
+ "growth phenotype",
+ "decreased length of autopodial extension",
+ "endochondral bone",
+ "upper limb segment phenotype",
+ "subdivision of skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "face",
+ "anatomical entity morphology phenotype",
+ "Growth abnormality",
"manual digit 1 plus metapodial segment",
- "segment of manus",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "nervous system morphology phenotype",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure",
- "anucleate cell",
- "appendage girdle complex",
- "Abnormal platelet count",
- "Abnormal forebrain morphology",
- "increased biological_process in skin of body",
- "number of platelet phenotype",
- "Abnormality of thrombocytes",
+ "embryo development phenotype",
+ "manual digit 1 or 5",
+ "anatomical system",
+ "delayed growth",
+ "limb endochondral element",
+ "phenotype",
+ "Abnormal cell morphology",
+ "Abnormal appendicular skeleton morphology",
+ "material entity",
+ "Macule",
+ "anatomical collection phenotype",
"limb bone morphology phenotype",
- "digit 1 plus metapodial segment",
- "integumental system phenotype",
- "acropodium region",
- "Abnormal skin morphology",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "Abnormality of the face",
- "manual digit",
- "Abnormality of limbs",
- "skin of body",
- "integumental system",
- "pigmentation phenotype",
- "Hyperpigmentation of the skin",
- "increased pigmentation in skin of body",
+ "autopodial skeleton",
+ "digit 1 or 5",
+ "bone of appendage girdle complex phenotype",
+ "decreased size of the manual digit",
+ "anatomical entity",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively anatomical structure development",
+ "arm",
+ "hematopoietic system",
+ "arm phenotype",
+ "multicellular organism",
+ "disconnected anatomical group",
+ "decreased length of anatomical entity",
+ "decreased length of organism subdivision",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "organ system subdivision",
+ "orbital region phenotype",
+ "appendage phenotype",
+ "manual digit 1 morphology phenotype",
+ "endochondral element phenotype",
+ "phenotypic effect",
"size of anatomical entity phenotype",
- "integument phenotype",
- "Abnormality of the skin",
- "regional part of brain",
+ "regulation of gene expression",
+ "autopod region morphology phenotype",
+ "subdivision of head",
+ "decreased length of manual digit 1 or 5",
+ "multi-limb segment region phenotype",
+ "head",
+ "Abnormality of limb bone",
+ "pectoral complex",
+ "size of eyeball of camera-type eye phenotype",
+ "bone element phenotype",
+ "biological_process phenotype",
+ "decreased size of the material anatomical entity",
+ "multicellular anatomical structure",
+ "Abnormal skeletal morphology",
+ "forelimb",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "hematopoietic system phenotype",
"appendicular skeletal system",
- "skin of body phenotype",
- "Multiple cafe-au-lait spots",
- "Hypermelanotic macule",
- "biological_process rate phenotype",
- "Macule",
- "pigmentation",
+ "eye",
+ "paired limb/fin segment",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased anatomical structure development",
+ "digit",
+ "limb endochondral element phenotype",
+ "Hyperpigmentation of the skin",
+ "skeleton of pectoral complex",
"integument",
- "decreased number of material anatomical entity",
- "increased biological_process",
- "eukaryotic cell",
- "increased pigmentation",
- "ectoderm-derived structure phenotype",
- "skeleton",
- "organ phenotype",
+ "decreased length of digit",
+ "aplasia or hypoplasia of anatomical entity",
+ "anatomical entity length phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "skeletal element",
+ "Bone marrow hypocellularity",
+ "Abnormality of limbs",
+ "Abnormality of the eye",
+ "musculoskeletal system",
+ "autopodial extension",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity phenotype",
+ "appendage",
+ "digit plus metapodial segment",
+ "decreased size of the anatomical structure",
"Localized skin lesion",
- "Metazoa",
- "homeostatic process phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "face phenotype",
- "entire sense organ system",
- "eyeball of camera-type eye",
- "subdivision of organism along main body axis phenotype",
+ "Abnormal hand morphology",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased qualitatively developmental process",
+ "regulation of biological process phenotype",
"entity",
- "body proper",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "craniocervical region",
- "size of eyeball of camera-type eye phenotype",
- "sense organ",
- "craniofacial/craniocervical phenotype",
- "Abnormal eye morphology",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "Abnormality of head or neck",
- "skin of body morphology phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "head morphology phenotype",
- "eye",
- "forelimb morphology phenotype",
- "head phenotype",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "Anemia",
- "decreased size of the multicellular anatomical structure",
- "biogenic amine secreting cell",
- "simple eye phenotype",
- "organism subdivision phenotype",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
+ "subdivision of skeletal system",
+ "occurrent",
+ "organ",
+ "appendicular skeleton morphology phenotype",
"decreased size of the organ",
- "neutrophil",
- "orbital region phenotype",
- "structure with developmental contribution from neural crest",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "visual system",
- "decreased size of the eyeball of camera-type eye",
- "lateral structure phenotype",
- "Abnormality of the head",
- "Abnormality of skin pigmentation",
- "bone element phenotype",
+ "skeletal element phenotype",
+ "endochondral bone phenotype",
+ "Postnatal growth retardation",
+ "skeletal system phenotype",
+ "anatomical structure phenotype",
+ "bone of free limb or fin phenotype",
+ "decreased length of manual digit",
+ "limb morphology phenotype",
+ "organ phenotype",
+ "manual digit phenotype",
+ "pigmentation phenotype",
+ "Hypermelanotic macule",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "digit phenotype",
+ "appendage girdle complex",
+ "regulation of gene expression phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone cell",
+ "hemolymphoid system",
+ "immune system",
+ "system",
+ "bone marrow cell",
"Abnormality of the upper limb",
- "limb bone phenotype",
+ "limb",
"cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "decreased number of neutrophil",
- "manual digit plus metapodial segment",
- "arm",
- "skeleton of limb phenotype",
- "subdivision of organism along appendicular axis",
- "camera-type eye",
- "pectoral appendage",
- "digit 1 or 5",
- "vision/eye phenotype",
- "bone of appendage girdle complex",
- "camera-type eye phenotype",
- "digit 1 phenotype",
+ "non-connected functional system",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormality of the immune system",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "skeleton",
+ "immune system phenotype",
+ "embryo development",
+ "embryo development rate phenotype",
+ "Short thumb",
+ "Intrauterine growth retardation",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "multicellular organism development",
+ "regulation of cellular process phenotype",
+ "anatomical structure development",
+ "biological_process rate phenotype",
+ "decreased qualitatively multicellular organism development",
+ "decreased multicellular organismal process",
+ "developmental process",
+ "anatomical structure development phenotype",
+ "negative regulation of biosynthetic process",
+ "decreased qualitatively multicellular organismal process",
+ "decreased embryo development",
+ "increased pigmentation",
+ "increased biological_process in skin of body",
+ "Cafe-au-lait spot",
+ "Microphthalmia",
+ "Multiple cafe-au-lait spots",
+ "decreased size of the sense organ",
+ "skin of body morphology phenotype",
],
},
{
- "id": "MONDO:0044325",
+ "id": "MONDO:0012186",
"category": "biolink:Disease",
- "name": "Fanconi anemia, complementation group W",
+ "name": "Fanconi anemia complementation group I",
+ "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0060978", "MEDGEN:1621245", "OMIM:617784", "UMLS:C4521564"],
- "synonym": ["FANCW", "Fanconi anemia, complementation group W"],
+ "xref": [
+ "DOID:0111091",
+ "GARD:15448",
+ "MEDGEN:323016",
+ "MESH:C563802",
+ "NCIT:C129026",
+ "OMIM:609053",
+ "UMLS:C1836861",
+ ],
+ "synonym": [
+ "FANCI",
+ "Fanconi Anemia, complementation Group 1",
+ "Fanconi Anemia, complementation group type 1",
+ "Fanconi anaemia complementation group type I",
+ "Fanconi anemia complementation group I",
+ "Fanconi anemia complementation group type I",
+ "Fanconi anemia, complementation group I",
+ ],
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001875",
+ "HP:0002984",
+ "HP:0002247",
+ "HP:0000543",
+ "HP:0001655",
+ "HP:0000325",
+ "HP:0000545",
+ "HP:0003974",
+ "HP:0001873",
+ "HP:0009778",
+ "HP:0001631",
+ "HP:0001511",
+ "HP:0000405",
+ "HP:0000470",
+ "HP:0009777",
+ "HP:0000483",
+ "HP:0000821",
+ "HP:0002949",
+ "HP:0030048",
+ "HP:0000252",
+ "HP:0000413",
+ "HP:0004325",
+ "HP:0034323",
+ "HP:0000568",
+ "HP:0002308",
+ "HP:0000609",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0000076",
+ "HP:0001643",
+ "HP:0005528",
+ "HP:0030680",
+ "HP:0000957",
+ "HP:0001903",
+ "HP:0001629",
+ "HP:0010034",
+ "HP:0012210",
+ "HP:0012506",
+ "HP:0000085",
+ "HP:0001274",
+ "HP:0004322",
+ "HP:0000089",
+ "HP:0000365",
+ "HP:0001331",
+ "HP:0005528",
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Hypoplasia of the radius",
+ "Duodenal atresia",
+ "Optic disc pallor",
+ "Patent foramen ovale",
+ "Triangular face",
+ "Myopia",
+ "Absent radius",
+ "Thrombocytopenia",
+ "Short thumb",
+ "Atrial septal defect",
+ "Intrauterine growth retardation",
+ "Conductive hearing impairment",
+ "Short neck",
+ "Absent thumb",
+ "Astigmatism",
+ "Hypothyroidism",
+ "Fused cervical vertebrae",
+ "Colpocephaly",
+ "Microcephaly",
+ "Atresia of the external auditory canal",
+ "Decreased body weight",
+ "Reduced circulating growth hormone concentration",
+ "Microphthalmia",
+ "Chiari malformation",
+ "Optic nerve hypoplasia",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Vesicoureteral reflux",
+ "Patent ductus arteriosus",
+ "Bone marrow hypocellularity",
+ "Abnormal cardiovascular system morphology",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Ventricular septal defect",
+ "Short 1st metacarpal",
+ "Abnormal renal morphology",
+ "Small pituitary gland",
+ "Horseshoe kidney",
+ "Agenesis of corpus callosum",
+ "Short stature",
+ "Renal hypoplasia",
+ "Hearing impairment",
+ "Absent septum pellucidum",
+ "Bone marrow hypocellularity",
+ ],
+ "has_phenotype_count": 44,
+ "has_phenotype_closure": [
+ "UPHENO:0008686",
+ "UBERON:0004714",
+ "UBERON:0000119",
+ "UPHENO:0025363",
+ "UPHENO:0025368",
+ "UPHENO:0009312",
+ "UBERON:0005401",
+ "UBERON:0011300",
+ "HP:0001331",
+ "UPHENO:0026588",
+ "UBERON:0000957",
+ "UBERON:0002020",
+ "UPHENO:0025921",
+ "UPHENO:0026263",
+ "UPHENO:0009136",
+ "UPHENO:0002921",
+ "UPHENO:0025610",
+ "UPHENO:0002564",
+ "UPHENO:0081210",
+ "HP:0008678",
+ "HP:0000002",
+ "UPHENO:0081423",
+ "HP:0004322",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
+ "UPHENO:0087750",
+ "UPHENO:0009064",
+ "UPHENO:0011553",
+ "UBERON:0000454",
+ "HP:0001274",
+ "UPHENO:0026388",
+ "UPHENO:0011576",
+ "UBERON:0003544",
+ "UBERON:0001869",
+ "HP:0033725",
+ "UPHENO:0009056",
+ "UPHENO:0008838",
+ "UPHENO:0011545",
+ "UPHENO:0085804",
+ "UPHENO:0085805",
+ "UPHENO:0008583",
+ "UPHENO:0011580",
+ "UPHENO:0002544",
+ "UPHENO:0002997",
+ "UPHENO:0008678",
+ "UPHENO:0008707",
+ "UPHENO:0087531",
+ "UPHENO:0087902",
+ "UBERON:0002336",
+ "UBERON:0005340",
+ "UBERON:0002473",
+ "UPHENO:0081562",
+ "UPHENO:0087415",
+ "UBERON:0019294",
+ "UPHENO:0011549",
+ "HP:0007370",
+ "UPHENO:0002800",
+ "UPHENO:0008622",
+ "UPHENO:0011557",
+ "UBERON:0002316",
+ "UBERON:0001018",
+ "UPHENO:0025935",
+ "UPHENO:0011515",
+ "UPHENO:0041465",
+ "HP:0000085",
+ "UPHENO:0076941",
+ "HP:0100542",
+ "HP:0000864",
+ "UPHENO:0068879",
+ "UBERON:0005156",
+ "UBERON:0003296",
+ "UPHENO:0069335",
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- "UPHENO:0076702",
- "HP:0100763",
- "UPHENO:0056059",
- "UPHENO:0002576",
- "GO:0023052",
- "HP:0001172",
- "UPHENO:0002969",
- "HP:0002715",
- "UPHENO:0011533",
- "UBERON:0013701",
- "UPHENO:0086172",
- "UPHENO:0002874",
- "UBERON:0034923",
- "UPHENO:0002948",
- "UPHENO:0014332",
- "UPHENO:0014287",
- "HP:0025033",
- "UPHENO:0011558",
- "HP:0002597",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0000475",
- "UBERON:0015203",
- "UBERON:0005172",
- "UBERON:0017672",
- "UPHENO:0004004",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0014244",
- "HP:0011844",
- "UPHENO:0075995",
- "UPHENO:0050121",
- "HP:0002060",
- "UPHENO:0003016",
- "UPHENO:0076812",
- "UPHENO:0005477",
- "GO:0140352",
+ "UPHENO:0002806",
+ "UPHENO:0008548",
+ "UBERON:0005173",
+ "UBERON:0010740",
+ "UBERON:0019207",
+ "UPHENO:0002642",
+ "UPHENO:0008925",
+ "UPHENO:0002634",
+ "UPHENO:0002603",
+ "UBERON:0001255",
+ "UBERON:0018707",
+ "UPHENO:0002437",
+ "UBERON:0000033",
+ "HP:0000076",
+ "UBERON:0009856",
+ "UBERON:0000477",
+ "UPHENO:0002377",
],
"has_phenotype_closure_label": [
- "Abnormal axial skeleton morphology",
- "Microcephaly",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of skull size",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "cranial skeletal system",
+ "number of anatomical enitites of type tissue phenotype",
+ "absent tissue in the multicellular organism",
+ "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
+ "Abnormal septum pellucidum morphology",
+ "absent septum pellucidum",
+ "lamina",
+ "gray matter",
+ "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
+ "absent lamina",
+ "lamina phenotype",
+ "absent ectoderm-derived structure in the brain ventricle",
+ "absent tissue",
+ "septum pellucidum phenotype",
+ "absent material anatomical entity in the brain ventricle",
+ "absent anatomical entity in the brain ventricle",
+ "gray matter of telencephalon",
+ "Renal hypoplasia",
+ "Renal hypoplasia/aplasia",
"kidney hypoplasia",
- "renal system morphology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the multicellular organism",
+ "size of multicellular organism phenotype",
+ "absent brain commissure",
+ "number of anatomical enitites of type axon tract phenotype",
+ "absent corpus callosum",
+ "Thin corpus callosum",
+ "cerebral subcortex",
+ "cerebral hemisphere morphology phenotype",
+ "number of anatomical enitites of type nervous system commissure phenotype",
+ "absent nervous system commissure",
+ "corpus callosum morphology phenotype",
+ "number of anatomical enitites of type intercerebral commissure phenotype",
+ "Aplasia/Hypoplasia of the corpus callosum",
+ "absent ectoderm-derived structure",
+ "number of anatomical enitites of type tract of brain phenotype",
+ "white matter",
+ "number of anatomical enitites of type commissure of telencephalon phenotype",
+ "tract of brain phenotype",
+ "absent anatomical entity in the nervous system",
+ "tract of brain",
+ "nervous system commissure",
+ "Abnormal cerebral white matter morphology",
+ "absent material anatomical entity in the brain",
+ "axon tract phenotype",
+ "commissure of telencephalon phenotype",
+ "absent neuron projection bundle",
+ "absent central nervous system cell part cluster",
+ "absent axon tract",
+ "absent commissure of telencephalon",
+ "Agenesis of corpus callosum",
+ "absent anatomical entity in the brain",
+ "cerebral hemisphere white matter",
+ "absent dorsal telencephalic commissure",
+ "brain commissure phenotype",
+ "Aplasia/Hypoplasia of the cerebral white matter",
+ "absent multi cell part structure",
+ "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
+ "absent anatomical entity in the central nervous system",
+ "white matter of forebrain",
+ "Abnormal corpus callosum morphology",
+ "number of anatomical enitites of type central nervous system cell part cluster phenotype",
+ "commissure of telencephalon",
+ "Abnormal cerebral subcortex morphology",
+ "number of anatomical enitites of type multi cell part structure phenotype",
+ "shape kidney",
+ "3-D shape anatomical entity",
+ "Abnormal localization of kidney",
+ "U-shaped anatomical entity",
+ "Horseshoe kidney",
+ "pituitary gland",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "reproductive gland morphology phenotype",
+ "reproductive structure",
+ "gland of diencephalon",
+ "reproductive system",
+ "hypothalamus-pituitary axis",
+ "decreased size of the gland",
+ "reproductive system phenotype",
+ "decreased size of the reproductive gland",
+ "reproductive organ",
+ "Abnormality of the diencephalon",
+ "reproductive organ phenotype",
+ "decreased size of the reproductive structure",
+ "Abnormal endocrine morphology",
+ "reproductive structure phenotype",
+ "size of pituitary gland phenotype",
+ "diencephalon morphology phenotype",
+ "reproductive system morphology phenotype",
+ "Small pituitary gland",
+ "Abnormality of the genital system",
+ "decreased size of the gland of diencephalon",
+ "Abnormal pituitary gland morphology",
+ "endocrine system morphology phenotype",
+ "reproductive gland phenotype",
+ "decreased size of the pituitary gland",
"kidney",
+ "kidney morphology phenotype",
+ "abdomen element phenotype",
+ "abdomen",
"kidney phenotype",
- "Renal hypoplasia",
- "Abnormality of the urinary system",
+ "axon tract",
+ "decreased size of the autopod endochondral element",
+ "decreased length of manual digit bone",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "decreased size of the phalanx endochondral element",
+ "manual digit bone phenotype",
+ "manual digit phalanx endochondral element phenotype",
+ "cell layer phenotype",
+ "Short phalanx of the thumb",
+ "Abnormal finger phalanx morphology",
+ "Abnormal metacarpal morphology",
+ "phalanx morphology phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "decreased length of limb long bone",
+ "decreased size of the autopod bone",
+ "manus bone phenotype",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "metapodium bone phenotype",
+ "decreased size of the forelimb long bone",
+ "metapodium bone 1",
+ "manual digitopodium bone",
+ "manual digit 1 phalanx",
+ "metapodium region",
+ "Abnormal 1st metacarpal morphology",
+ "phalanx phenotype",
+ "decreased size of the digitopodium bone",
+ "decreased length of manual digitopodium bone",
+ "autopod endochondral element",
+ "metacarpus skeleton",
+ "tissue phenotype",
+ "digit 1 digitopodial skeleton",
+ "skeleton of manual acropodium",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "decreased length of forelimb long bone",
+ "Abnormality of thumb phalanx",
+ "phalanx endochondral element",
+ "autopod bone",
+ "manual digit metacarpus endochondral element",
+ "manual digit 1 digitopodial skeleton",
+ "decreased length of phalanx",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "digitopodium bone phenotype",
+ "phalanx",
+ "digitopodium bone",
+ "manus bone",
+ "metacarpal bone",
+ "manual digit 1 metacarpus endochondral element",
+ "decreased length of metacarpal bone",
+ "manual digit 1 phalanx phenotype",
+ "phalanx endochondral element phenotype",
+ "acropodial skeleton",
+ "metapodium bone 1 phenotype",
+ "skeleton of digitopodium",
+ "individual digit of digitopodial skeleton",
+ "decreased length of manus bone",
+ "aplasia or hypoplasia of metacarpal bone",
+ "incomplete closing of the interventricular septum",
+ "interventricular septum",
+ "interventricular septum morphology phenotype",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "Anemia",
+ "Abnormal erythroid lineage cell morphology",
+ "erythrocyte morphology phenotype",
+ "erythroid lineage cell",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "Irregular hyperpigmentation",
+ "pigmentation",
+ "Abnormality of skin pigmentation",
+ "Hypermelanotic macule",
+ "Hyperpigmentation of the skin",
+ "skin of body morphology phenotype",
+ "pigmentation phenotype",
+ "Cafe-au-lait spot",
+ "increased biological_process in skin of body",
+ "integumental system",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Bone marrow hypocellularity",
+ "artery morphology phenotype",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the vasculature",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "blood vessel phenotype",
+ "coronary vessel morphology phenotype",
+ "incomplete closing of the vessel",
+ "incomplete closing of the heart blood vessel",
+ "vascular system morphology phenotype",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "anatomical cluster phenotype",
+ "great vessel of heart",
+ "trunk blood vessel phenotype",
+ "vasculature of organ",
+ "vasculature of trunk",
+ "heart blood vessel",
+ "arterial system",
+ "blood vessel",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "blood vasculature",
+ "incomplete closing of the artery",
+ "decreased size of the phalanx",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "conceptus",
+ "vasculature",
+ "coronary vessel",
+ "outflow tract",
+ "Patent ductus arteriosus",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "vasculature phenotype",
+ "decreased length of metapodium bone 1",
+ "ureter",
+ "upper urinary tract",
+ "genitourinary system phenotype",
+ "upper urinary tract phenotype",
+ "mesoderm-derived structure physiology phenotype",
"renal system",
- "compound organ phenotype",
- "Abnormal renal morphology",
- "cavitated compound organ",
- "midface hypoplasia",
- "face",
- "craniocervical region phenotype",
- "craniofacial/craniocervical phenotype",
- "face phenotype",
- "cell",
- "Abnormal cellular phenotype",
- "bone marrow",
- "bone cell",
- "hematopoietic cell",
- "Megakaryocyte dysplasia",
- "cell phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "Abnormal cell morphology",
+ "lower urinary tract",
+ "absent mesoderm-derived structure in the forelimb",
+ "appendage girdle complex",
+ "subdivision of head",
+ "absent bone of appendage girdle complex",
+ "diencephalon phenotype",
+ "Abnormal platelet morphology",
+ "absent organ",
+ "absent anatomical structure in the brain ventricle/choroid plexus",
+ "decreased size of the organ",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "Vertebral fusion",
+ "absent skeletal element in the limb",
+ "Abnormality of the thyroid gland",
+ "absent anatomical entity in the forelimb",
+ "absent endochondral bone in the limb",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "absent mesoderm-derived structure",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent anatomical entity in the brain ventricle/choroid plexus",
+ "absent anatomical structure in the forelimb",
+ "blood vessel morphology phenotype",
+ "absent endochondral element in the limb",
+ "pituitary gland phenotype",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "Aplasia involving bones of the upper limbs",
+ "decreased length of manual digit phalanx endochondral element",
+ "absent anatomical entity in the skeletal system",
+ "Abnormal cellular physiology",
+ "organ physiology phenotype",
+ "absent material anatomical entity",
"cerebellum morphology phenotype",
- "hindbrain phenotype",
- "formed regional part of brain",
- "segmental subdivision of hindbrain phenotype",
- "organ subunit",
- "malformed anatomical entity",
+ "cerebral hemisphere white matter morphology phenotype",
"Chiari malformation",
- "cerebellum phenotype",
- "Abnormal hindbrain morphology",
- "formed multi-tissue structure",
- "segmental subdivision of nervous system",
- "Cerebellar malformation",
- "Abnormal bone marrow cell morphology",
- "metencephalon morphology phenotype",
- "brain white matter phenotype",
- "brain white matter degeneration",
- "Abnormal periventricular white matter morphology",
- "cerebral hemisphere white matter degeneration",
- "brain white matter morphology phenotype",
- "telencephalon phenotype",
- "multi cell part structure degeneration",
- "white matter of forebrain degeneration",
- "Abnormal cerebral white matter morphology",
- "anatomical entity degeneration",
- "central nervous system cell part cluster degeneration",
- "white matter of telencephalon phenotype",
- "white matter of forebrain",
- "Atrophy/Degeneration affecting the central nervous system",
- "Abnormal cerebral subcortex morphology",
- "white matter of forebrain phenotype",
- "cerebral hemisphere morphology phenotype",
- "white matter",
- "white matter of telencephalon degeneration",
- "anatomical entity degeneration in central nervous system",
- "cerebral hemisphere white matter",
- "cerebral subcortex",
- "white matter degeneration",
- "brain white matter",
- "Abnormal cerebral morphology",
- "Hypopituitarism",
- "decreased nitrogen compound transport",
- "reproductive system morphology phenotype",
- "Abnormal forebrain morphology",
- "decreased qualitatively localization",
- "growth hormone secretion phenotype",
- "bodily fluid",
- "decreased establishment of localization",
- "decreased qualitatively nitrogen compound transport",
- "Abnormal circulating hormone concentration",
- "peptide transport phenotype",
- "gland",
- "genitourinary system",
- "cellular organisms",
- "establishment of localization",
- "Anterior hypopituitarism",
- "gland of diencephalon phenotype",
- "tissue",
- "diencephalon phenotype",
- "decreased qualitatively secretion",
- "decreased qualitatively signal release",
- "Eumetazoa",
- "telencephalon",
- "diencephalon",
- "nitrogen compound transport",
- "structure with developmental contribution from neural crest",
- "reproductive structure phenotype",
- "cellular process phenotype",
- "Abnormal megakaryocyte morphology",
- "Abnormality of the endocrine system",
- "cell communication",
- "Abnormality of the genitourinary system",
- "multi cell part structure phenotype",
+ "cardiac septum morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "agenesis of anatomical entity",
+ "decreased length of endochondral element",
+ "absent limb bone in the limb",
+ "Abnormality of the integument",
+ "cardiac atrium",
+ "absent forelimb bone in the forelimb",
+ "lateral structure physiology phenotype",
+ "decreased size of the structure with developmental contribution from neural crest",
"material anatomical entity physiology phenotype",
- "decreased hormone secretion",
- "root",
- "structure with developmental contribution from neural crest phenotype",
- "amide transport phenotype",
- "decreased secretion in pituitary gland",
- "biological_process in nervous system phenotype",
- "cerebral hemisphere",
- "growth hormone secretion",
- "decreased qualitatively biological_process in central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "chemical entity",
- "organism",
- "localization",
- "cellular process",
- "Abnormal pituitary gland morphology",
- "upper urinary tract",
- "decreased growth hormone secretion",
- "pituitary gland phenotype",
- "reproductive gland phenotype",
+ "absent anatomical structure in the skeletal system",
+ "duodenum",
+ "segment of autopod",
+ "lateral structure phenotype",
+ "decreased size of the manus bone",
+ "absent limb bone in the forelimb",
+ "absent forelimb bone",
+ "neural crest-derived structure, asymmetrically curved phenotype",
"reproductive gland",
- "forebrain",
- "decreased amide transport",
- "decreased qualitatively regulation of biological quality",
- "transport phenotype",
- "localization phenotype",
- "glandular system",
- "Abnormal radial ray morphology",
- "haemolymphatic fluid",
- "transport",
- "peptide secretion phenotype",
- "Abnormal endocrine physiology",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "decreased qualitatively biological regulation",
- "gland morphology phenotype",
- "peptide secretion",
- "amide transport",
- "hormone secretion",
- "genitourinary system phenotype",
- "endocrine gland phenotype",
- "decreased hormone transport",
- "Abnormal growth hormone level",
- "signal release phenotype",
- "secretion phenotype",
- "reproductive organ phenotype",
- "blood",
- "Decreased response to growth hormone stimulation test",
- "decreased qualitatively secretion by cell",
- "endocrine system physiology phenotype",
- "endocrine gland morphology phenotype",
- "multi-tissue structure",
- "Abnormality of the genital system",
- "skeleton",
- "organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "trunk region element phenotype",
- "bone of free limb or fin phenotype",
- "decreased length of forelimb endochondral element",
- "musculature phenotype",
- "Short long bone",
- "arm bone phenotype",
- "process",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "hindbrain morphology phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "cerebral hemisphere white matter morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of skeletal element",
- "long bone phenotype",
- "paired limb/fin skeleton",
- "metencephalon",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "anatomical entity length phenotype",
- "zeugopod phenotype",
- "absent anatomical structure",
- "decreased qualitatively hormone secretion",
- "decreased biological_process in multicellular organism",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "gland phenotype",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "regulation of biological process phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "absent cell layer",
+ "corpus callosum",
"subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased peptide hormone secretion",
+ "decreased length of manual digit 1 phalanx",
+ "absent arm bone in the forelimb",
+ "cardiac atrium morphology phenotype",
+ "circulatory organ",
+ "forelimb long bone phenotype",
+ "cardiac septum phenotype",
+ "interatrial septum",
+ "number of anatomical enitites of type corpus callosum phenotype",
+ "subdivision of head phenotype",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "incomplete closing of the anatomical structure",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
+ "integument",
+ "subdivision of skeletal system phenotype",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "incomplete closing of the interatrial septum",
+ "Abnormality of body height",
"decreased size of the mesoderm-derived structure",
- "zeugopod",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "signaling",
- "cell-cell signaling",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "organ component layer",
- "mesoderm-derived structure phenotype",
- "decreased qualitatively peptide transport",
- "absent material anatomical entity",
- "Abnormal forearm morphology",
- "increased number of anatomical entity",
- "Absent thumb",
- "decreased qualitatively export from cell",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "decreased size of the endochondral bone",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "limb",
- "decreased qualitatively amide transport",
- "musculature",
+ "organism substance",
+ "absent multicellular anatomical structure in the brain ventricle",
+ "gray matter of forebrain",
+ "heart plus pericardium",
+ "septum phenotype",
+ "incomplete closing of the anatomical entity",
+ "absent long bone in the forelimb",
+ "manual digit 1 morphology phenotype",
+ "septum of telencephalon",
+ "cardiovascular system",
+ "septum",
+ "paired limb/fin segment",
+ "Colpocephaly",
+ "anatomical entity morphology in the heart phenotype",
+ "hematopoietic system phenotype",
+ "cranial nerve II morphology phenotype",
+ "Abnormality of head or neck",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "absent forelimb long bone in the forelimb",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "serotonin secreting cell",
+ "eyeball of camera-type eye",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "posterior segment of eyeball",
+ "All",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "abdomen element",
+ "homeostatic process phenotype",
+ "regional part of brain",
+ "Abnormal fundus morphology",
+ "Abnormal atrial septum morphology",
+ "decreased length of limb endochondral element",
+ "metencephalon morphology phenotype",
+ "cervical vertebra",
+ "anterior segment of eyeball morphology phenotype",
+ "Abnormal anterior eye segment morphology",
+ "limb phenotype",
+ "cardiovascular system morphology phenotype",
+ "fused anatomical entity and bony vertebral centrum",
+ "axial skeletal system",
+ "subdivision of vertebral column",
"absent manual digit",
- "spleen",
- "absent organism subdivision",
- "subdivision of skeleton",
- "radius endochondral element",
- "regulation of hormone levels phenotype",
- "decreased size of the multicellular anatomical structure",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "decreased qualitatively hormone transport",
- "hemopoietic organ morphology phenotype",
- "upper limb segment phenotype",
- "biological_process in central nervous system phenotype",
- "biological_process phenotype",
- "gland of diencephalon",
- "absent autopodial extension",
- "radius bone morphology phenotype",
+ "decreased length of manual digit 1 phalanx endochondral element",
+ "forelimb zeugopod bone",
"head phenotype",
- "anatomical entity",
- "paired limb/fin phenotype",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "developmental process",
+ "negative regulation of metabolic process",
+ "Optic disc pallor",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "hormone secretion",
+ "Triangular face",
+ "incomplete closing of the blood vessel",
+ "myeloid cell",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "decreased size of the skeletal element",
+ "vertebral element",
+ "camera-type eye morphology phenotype",
+ "sense organ physiology phenotype",
+ "Atrial septal defect",
+ "tunica fibrosa of eyeball",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "body proper",
+ "Abnormal joint morphology",
+ "Abnormal optic disc morphology",
+ "brain ventricle",
+ "regional part of nervous system phenotype",
+ "systemic artery phenotype",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
+ "visual system",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "Abnormality of the nervous system",
+ "head",
+ "decreased size of the endocrine gland",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "cranial neuron projection bundle",
+ "negative regulation of macromolecule biosynthetic process",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "bodily fluid",
+ "simple eye",
+ "face morphology phenotype",
+ "duodenum phenotype",
+ "Abnormal eye morphology",
+ "absent tract of brain",
+ "subdivision of tube phenotype",
+ "closing of the multicellular anatomical structure",
+ "organ system subdivision",
+ "orbital region",
+ "Abnormal intestine morphology",
+ "optic disc",
+ "aplasia or hypoplasia of phalanx of manus",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "Abnormal digestive system morphology",
"skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision phenotype",
- "decreased biological_process in pituitary gland",
- "increased number of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the spleen",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
+ "decreased system process",
+ "endoderm-derived structure atresia",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
+ "absent skeletal element in the forelimb",
+ "regulation of gene expression",
+ "digestive tract",
+ "anatomical system atresia",
+ "Abnormal ureter physiology",
+ "anatomical structure physiology phenotype",
+ "trunk",
+ "retina",
+ "sac phenotype",
+ "process",
+ "Gastrointestinal atresia",
+ "tube",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "Fused cervical vertebrae",
+ "Abnormality of the head",
+ "heart",
+ "anatomical conduit",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "anatomical structure morphology in the heart phenotype",
+ "Intestinal atresia",
"arm bone",
- "occurrent",
- "material anatomical entity degeneration",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "white matter of telencephalon",
- "Abnormal diencephalon morphology",
- "lateral structure",
- "skeletal system phenotype",
- "Growth abnormality",
- "megakaryocyte",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
+ "Abnormal ventricular septum morphology",
+ "closing of the material anatomical entity",
+ "circulatory system",
"Abnormal small intestine morphology",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "Abnormal spleen morphology",
- "Abnormal skeletal morphology",
- "decreased length of anatomical entity",
+ "organ part phenotype",
+ "decreased length of autopodial extension",
+ "closing of the anatomical entity",
+ "interatrial septum morphology phenotype",
+ "formed multi-tissue structure",
+ "alimentary part of gastrointestinal system phenotype",
+ "subdivision of organism along main body axis",
+ "Reduced circulating growth hormone concentration",
+ "small intestine morphology phenotype",
+ "multicellular organismal process phenotype",
+ "ureter physiology phenotype",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "metacarpus region",
+ "formed ectoderm-derived structure",
+ "Abnormality of the digestive system",
+ "intercerebral commissure phenotype",
+ "Abnormality of the upper limb",
+ "alimentary part of gastrointestinal system",
+ "Atresia of the external auditory canal",
+ "duodenum morphology phenotype",
+ "pelvic region of trunk",
"alimentary part of gastrointestinal system atresia",
- "decreased developmental process",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "formed multicellular anatomical structure",
- "decreased biological regulation",
- "increased size of the ventricle of nervous system",
- "digestive system",
- "increased number of abdominal segment element",
- "establishment of localization phenotype",
- "decreased length of bone element",
- "skeletal element phenotype",
- "appendage girdle complex",
- "subdivision of tube",
- "Abnormality of the upper urinary tract",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "secretion by cell",
- "forelimb zeugopod skeleton",
- "digit 1 or 5",
- "forelimb",
- "increased number of abdominal viscera",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "white matter phenotype",
- "segment of manus",
- "organ part",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "incomplete closing of the coronary vessel",
+ "nervous system process phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth",
+ "absent digit",
+ "absent arm bone",
+ "decreased length of forelimb bone",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Eukaryota",
+ "negative regulation of cellular metabolic process",
+ "limb morphology phenotype",
+ "fused anatomical entity and vertebra",
+ "biological regulation phenotype",
+ "central nervous system cell part cluster",
"forebrain morphology phenotype",
- "appendicular skeleton",
- "Abnormality of the head",
- "multi cell part structure",
- "Abnormal gastrointestinal tract morphology",
- "anatomical entity morphology in the pectoral complex phenotype",
+ "decreased length of forelimb endochondral element",
+ "absent anatomical structure",
+ "lateral structure",
+ "absent limb long bone in the forelimb",
"intestine morphology phenotype",
- "skeleton of pectoral complex",
- "decreased length of anatomical structure",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "cardiovascular system",
- "midface phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "increased number of hemopoietic organ",
- "closing of the subdivision of digestive tract",
- "Neurodegeneration",
- "material anatomical entity atresia",
- "duodenum phenotype",
- "reproductive gland morphology phenotype",
- "brain morphology phenotype",
- "skeleton phenotype",
- "intestine atresia",
- "phenotype",
- "decreased length of forelimb bone",
- "digestive system phenotype",
- "Upper limb undergrowth",
- "quality",
- "Leukoencephalopathy",
- "decreased size of the bone of pectoral complex",
- "increased number of spleen",
+ "arm",
+ "number of leukocyte phenotype",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "cellular organisms",
+ "external acoustic meatus phenotype",
+ "Abnormal neutrophil count",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "compound organ physiology phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "organism",
+ "irregular bone",
+ "decreased length of bone of pectoral complex",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "Abnormal posterior eye segment morphology",
"forelimb morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "number of anatomical enitites of type abdomen element phenotype",
- "anatomical entity phenotype",
- "closing of the material anatomical entity",
- "embryo development phenotype",
+ "Abnormality of the middle ear",
+ "limb segment",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "manual digitopodium region",
+ "decreased length of digit",
+ "hematopoietic cell",
+ "eyeball of camera-type eye phenotype",
+ "decreased length of digit 1 or 5",
+ "regulation of biological quality phenotype",
+ "incomplete closing of the cardiac septum",
+ "Astigmatism",
+ "organ subunit",
+ "anatomical structure",
+ "absent material anatomical entity in the brain ventricle/choroid plexus",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "radius bone hypoplasia",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "anatomical entity morphology phenotype",
+ "decreased length of endochondral bone",
+ "digestive system",
+ "decreased length of long bone",
+ "curved anatomical entity",
+ "Abnormality of the gastrointestinal tract",
+ "programmed DNA elimination",
+ "arm bone phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "bone of free limb or fin phenotype",
"musculature of body",
- "duodenum morphology phenotype",
- "limb segment",
- "Abnormality of the face",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "vertebra",
+ "paired limb/fin phenotype",
+ "tissue",
+ "forelimb zeugopod bone morphology phenotype",
+ "concave 3-D shape anatomical entity",
+ "absent bone of free limb or fin in the forelimb",
"continuant",
- "anatomical conduit",
- "closing of the organ part",
- "manual digit plus metapodial segment",
- "pectoral appendage skeleton",
- "telencephalon morphology phenotype",
- "pituitary gland morphology phenotype",
- "ectoderm-derived structure degeneration",
- "decreased multicellular organismal process",
- "taxon specific phenotype",
- "forelimb phenotype",
- "Abnormal brain morphology",
- "decreased secretion by cell",
- "adenohypophysis phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "limb phenotype",
- "nervous system phenotype",
- "formed ectoderm-derived structure",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "material entity",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "organ",
- "brain phenotype",
- "skeleton of limb",
- "digestive tract",
- "anatomical structure degeneration",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "radius bone hypoplasia",
- "anatomical structure",
- "hemopoietic organ",
- "small intestine",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "digestive system element",
- "formed anatomical structure",
- "All",
- "subdivision of tube phenotype",
- "limb bone",
- "midface morphology phenotype",
+ "multicellular anatomical structure phenotype",
+ "decreased number of granulocyte",
+ "neutrophil",
+ "Abnormal optic nerve morphology",
+ "decreased size of the forelimb endochondral element",
+ "independent continuant",
+ "Abnormal granulocyte morphology",
+ "subdivision of tube atresia",
+ "absent limb long bone",
+ "digestive system element phenotype",
+ "anatomical entity atresia",
+ "telencephalic ventricle",
+ "Abnormal retinal morphology",
+ "decreased length of material anatomical entity",
+ "sensory perception of mechanical stimulus",
+ "digestive system morphology phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "absent bone of pectoral complex in the limb",
+ "decreased number of myeloid cell",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "endoderm-derived structure",
+ "Abnormal morphology of the great vessels",
"pectoral complex",
- "Myelodysplasia",
- "alimentary part of gastrointestinal system phenotype",
+ "Short metacarpal",
+ "Abnormality of globe size",
+ "decreased number of hematopoietic cell",
+ "bone element",
+ "leukocyte",
+ "material entity",
+ "long bone",
+ "decreased sensory perception of mechanical stimulus",
+ "negative regulation of biosynthetic process",
+ "decreased multicellular organism development",
+ "hemolymphoid system",
+ "multi-limb segment region phenotype",
+ "absent bone element",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "cellular process",
+ "musculature phenotype",
+ "sense organ",
+ "decreased length of phalanx endochondral element",
+ "absent material anatomical entity in the forelimb",
+ "Neutropenia",
+ "decreased height of the anatomical entity",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the eye",
+ "hindbrain",
+ "absent bone of appendage girdle complex in the limb",
+ "vertebra phenotype",
+ "renal system morphology phenotype",
+ "cardiac ventricle morphology phenotype",
+ "Abnormal granulocyte count",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "Short 1st metacarpal",
+ "decreased size of the anatomical entity",
+ "sensory perception of sound",
+ "Abnormal forearm bone morphology",
+ "bone of free limb or fin",
+ "main body axis",
+ "myeloid leukocyte phenotype",
+ "increased qualitatively biological_process",
+ "forebrain",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "axon tract morphology phenotype",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "ocular fundus",
+ "neutrophil phenotype",
+ "organism subdivision",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "Phenotypic abnormality",
+ "myeloid leukocyte",
+ "limb endochondral element phenotype",
+ "granulocyte",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "immune system morphology phenotype",
+ "dorsal telencephalic commissure",
+ "skeletal system phenotype",
+ "dorsal telencephalic commissure morphology phenotype",
+ "digit plus metapodial segment",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "transport",
+ "absent limb bone",
+ "limb endochondral element",
+ "phenotype",
+ "delayed growth",
+ "Abnormal hindbrain morphology",
+ "Abnormal cell morphology",
+ "closing of the ectoderm-derived structure",
+ "simple eye physiology phenotype",
"subdivision of digestive tract",
- "body proper",
- "appendicular skeletal system",
- "Decreased head circumference",
+ "fused skeletal joint and anatomical entity",
+ "number of anatomical enitites of type lamina phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "cell layer",
+ "viscus",
+ "pelvic region element phenotype",
+ "Short forearm",
+ "nitrogen compound transport phenotype",
+ "bone of dorsum",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "anatomical conduit atresia",
+ "decreased length of digitopodium bone",
+ "regulation of cellular metabolic process phenotype",
+ "decreased number of cell",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "endocrine system",
+ "immune system",
+ "chorioretinal region",
+ "structure with developmental contribution from neural crest phenotype",
"material anatomical entity",
- "brain ventricle/choroid plexus phenotype",
- "increased number of multicellular anatomical structure in the abdomen",
- "multicellular organism phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "decreased length of bone of pectoral complex",
- "hypothalamus-pituitary axis",
+ "nucleate cell",
+ "Abnormal appendicular skeleton morphology",
+ "thyroid gland",
+ "Abnormal myeloid leukocyte morphology",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent multicellular anatomical structure",
+ "endochondral bone phenotype",
+ "Abnormality of the ear",
+ "cardiac septum",
+ "Cerebellar malformation",
+ "anucleate cell",
+ "shape of continuant phenotype",
+ "tube phenotype",
+ "Opisthokonta",
+ "eye",
+ "compound organ",
+ "skeleton of pectoral complex",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "thoracic cavity element",
+ "retina morphology phenotype",
+ "Thrombocytopenia",
+ "great vessel of heart morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "anatomical structure mass phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical entity",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "Abnormality of refraction",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "peptide secretion",
"absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "increased number of material anatomical entity in the abdomen",
- "decreased length of material anatomical entity",
- "signal release",
- "decreased size of the forelimb endochondral element",
- "secretion by cell phenotype",
- "subdivision of digestive tract phenotype",
- "tube",
- "regulation of biological quality phenotype",
- "autopodial extension phenotype",
- "musculature of body phenotype",
- "decreased qualitatively regulation of hormone levels",
- "forelimb zeugopod bone hypoplasia",
- "absent material anatomical entity in the limb",
- "Abnormal cerebellum morphology",
- "organ subunit phenotype",
- "export from cell",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "head morphology phenotype",
- "immune system phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "segmental subdivision of nervous system phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "arm",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "increased number of anatomical structure",
+ "sensory perception of mechanical stimulus phenotype",
+ "disconnected anatomical group",
+ "multicellular organism",
+ "skeleton",
+ "trunk blood vessel",
+ "absent radius endochondral element",
+ "Eumetazoa",
+ "number of hematopoietic cell phenotype",
+ "face phenotype",
+ "Abnormality of the bladder",
+ "closing of the anatomical structure",
+ "dorsum",
+ "Abnormal leukocyte count",
+ "decreased functionality of the endocrine gland",
+ "Abnormal duodenum morphology",
+ "cavitated compound organ",
+ "incomplete closing of the septum",
+ "motile cell",
+ "metacarpal bone phenotype",
+ "skeletal system",
+ "sensory system",
+ "cervical vertebra phenotype",
+ "multicellular anatomical structure, curved phenotype",
"multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased length of long bone",
- "decreased qualitatively biological_process",
+ "Abnormal cellular immune system morphology",
+ "eye phenotype",
+ "urinary bladder physiology phenotype",
+ "urinary bladder phenotype",
+ "absent intercerebral commissure",
+ "system",
+ "regulation of gene expression phenotype",
+ "decreased size of the limb long bone",
+ "Abnormal cardiac atrium morphology",
+ "bone marrow",
+ "fused vertebra and bony vertebral centrum",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "Microcephaly",
+ "regulation of metabolic process phenotype",
+ "decreased number of anatomical structure",
+ "material anatomical entity atresia",
+ "bone cell",
+ "skeletal system morphology phenotype",
+ "fused cervical vertebra and anatomical entity",
+ "Patent foramen ovale",
+ "heart morphology phenotype",
+ "decreased functionality of the structure with developmental contribution from neural crest",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "granulocyte morphology phenotype",
+ "taxon specific phenotype",
+ "Abnormal renal morphology",
+ "radius endochondral element",
+ "zeugopod",
+ "anatomical system phenotype",
+ "regulation of biosynthetic process phenotype",
+ "skeletal element",
+ "metapodium bone",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
+ "cornea morphology phenotype",
+ "duodenum atresia",
+ "Localized skin lesion",
+ "musculature",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "decreased number of neutrophil",
+ "digestive system phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormal cellular phenotype",
+ "multi-limb segment region",
+ "ventricle of nervous system",
+ "absent organ in the forelimb",
+ "decreased size of the bone element",
+ "decreased length of autopod bone",
+ "subdivision of digestive tract atresia",
+ "quality",
+ "central nervous system cell part cluster phenotype",
+ "anatomical collection phenotype",
+ "vessel",
+ "decreased size of the sense organ",
+ "anatomical system",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "increased pigmentation",
+ "Abnormal skeletal morphology",
+ "forelimb",
+ "decreased number of anatomical entity",
+ "Abnormal forebrain morphology",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "organ system subdivision phenotype",
+ "simple eye phenotype",
+ "growth hormone secretion phenotype",
+ "gland of diencephalon phenotype",
+ "anatomical wall",
+ "decreased length of autopod endochondral element",
+ "absent bone of free limb or fin",
+ "bone of appendage girdle complex",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "secretion phenotype",
+ "structure with developmental contribution from neural crest",
"Abnormal cerebral ventricle morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "tube phenotype",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "regional part of brain phenotype",
- "biological regulation",
- "anatomical system atresia",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "specifically dependent continuant",
- "closing of the anatomical entity",
+ "formed regional part of brain",
"aplasia or hypoplasia of telencephalon",
- "Abnormal metencephalon morphology",
- "aplasia or hypoplasia of radius bone",
- "Intrauterine growth retardation",
- "brain ventricle/choroid plexus",
- "pituitary gland",
- "decreased size of the skeletal element",
- "duodenum atresia",
- "multicellular organism",
- "embryo development",
- "Abnormality of the digestive system",
- "decreased length of limb endochondral element",
- "Phenotypic abnormality",
- "forelimb long bone",
- "closing of the anatomical system",
- "Abnormal midface morphology",
- "increased number of immune organ",
- "decreased size of the limb bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased length of bone of appendage girdle complex",
- "multicellular anatomical structure",
- "long bone morphology phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Midface retrusion",
- "bone element",
- "pectoral appendage",
- "Abnormality of the vasculature",
- "central nervous system cell part cluster",
- "pectoral appendage skeleton phenotype",
- "lymphoid system phenotype",
- "ventricle of nervous system phenotype",
- "closing of the multicellular anatomical structure",
- "skeleton of manus",
- "alimentary part of gastrointestinal system",
- "biological_process rate in brain phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "neoplasm phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
+ "Abnormality of body weight",
+ "mesoderm-derived structure",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the hand",
+ "absent forelimb endochondral element",
+ "skeleton phenotype",
+ "Hypoplasia of the radius",
+ "decreased size of the digit",
"zeugopodial skeleton",
- "Intestinal atresia",
- "anatomical system",
- "nitrogen compound transport phenotype",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "skeletal system morphology phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "cerebral hemisphere white matter phenotype",
- "small intestine phenotype",
- "Duodenal atresia",
- "digestive system element phenotype",
- "organ part phenotype",
- "Abnormal limb bone morphology",
- "Neoplasm by anatomical site",
- "hormone transport",
- "Abnormality of the skeletal system",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "decreased export from cell",
- "immune organ phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
+ "aplasia or hypoplasia of anatomical entity",
+ "limb long bone",
+ "forelimb bone",
+ "absent anatomical structure in the brain ventricle",
+ "camera-type eye",
+ "Abnormality of the orbital region",
+ "decreased length of skeletal element",
+ "absent multicellular anatomical structure in the brain",
+ "absent forelimb endochondral element in the forelimb",
+ "endocrine gland physiology phenotype",
+ "entire sense organ system",
+ "absent bone of pectoral complex",
+ "asymmetrically curved cornea",
+ "Synostosis of joints",
+ "Aplasia involving bones of the extremities",
+ "nervous system phenotype",
+ "endocrine gland morphology phenotype",
+ "Macule",
+ "anatomical collection",
+ "cranial nerve II",
+ "regulation of macromolecule metabolic process phenotype",
+ "Aplasia involving forearm bones",
+ "skeleton of limb",
+ "Abnormality of the urinary system",
+ "closing of the subdivision of tube",
+ "neck morphology phenotype",
+ "cardiovascular system phenotype",
+ "manual digit phalanx endochondral element",
+ "photoreceptor array",
+ "Abnormality of the immune system",
+ "paired limb/fin skeleton",
+ "Abnormal nervous system physiology",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "number of anatomical enitites of type brain commissure phenotype",
+ "forelimb endochondral element",
"limb bone phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "Hematological neoplasm",
- "postcranial axial skeleton",
- "organ system subdivision",
- "viscus",
- "diencephalon morphology phenotype",
- "decreased size of the bone element",
- "abdominal viscera phenotype",
- "endochondral bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
+ "secretory cell",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "decreased size of the bone of pectoral complex",
"formed regional part of nervous system",
- "spleen phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased length of forelimb zeugopod bone",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "agenesis of anatomical entity",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "phalanx of manus phenotype",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of anatomical structure",
+ "absent bone element in the forelimb",
+ "ocular surface region morphology phenotype",
+ "white matter of telencephalon",
+ "decreased size of the limb bone",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "mesoderm-derived structure phenotype",
+ "external ear",
+ "decreased length of bone of appendage girdle complex",
+ "aplastic forelimb zeugopod bone",
+ "glandular system",
+ "subdivision of trunk",
+ "Abnormal thumb morphology",
+ "fused anatomical entity and anatomical entity",
+ "decreased size of the long bone",
+ "Absent forearm bone",
+ "decreased size of the material anatomical entity",
+ "forelimb zeugopod bone hypoplasia",
+ "Abnormal cerebellum morphology",
+ "anterior region of body",
+ "decreased length of manual digit 1",
+ "endochondral bone",
+ "endochondral element phenotype",
+ "subdivision of skeleton",
+ "autopod bone phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "decreased size of the autopodial extension",
+ "manus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "sensory perception",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "digestive system element",
+ "decreased length of multicellular anatomical structure",
+ "radius bone phenotype",
+ "decreased length of mesoderm-derived structure",
+ "formed material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "Abnormality of the curvature of the cornea",
+ "limb",
+ "material anatomical entity phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal morphology of the radius",
"decreased size of the limb endochondral element",
+ "acropodium region",
+ "signal release phenotype",
+ "anatomical structure atresia",
+ "organ part atresia",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "multi cell part structure",
+ "limb long bone morphology phenotype",
+ "aplasia or hypoplasia of corpus callosum",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "Abnormality of the kidney",
+ "orbital region phenotype",
+ "appendage phenotype",
+ "organism subdivision phenotype",
+ "forelimb bone phenotype",
+ "sense organ phenotype",
+ "localization phenotype",
+ "decreased size of the forelimb bone",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "phalanx of manus",
+ "number of anatomical enitites of type bone element phenotype",
+ "decreased size of the bone of appendage girdle complex",
"anatomical entity hypoplasia",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of limbs",
+ "endochondral element",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "appendicular skeletal system",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormality of the cervical spine",
+ "Upper limb undergrowth",
+ "Abnormal immune system morphology",
+ "Abnormality of thrombocytes",
+ "manual digitopodium bone phenotype",
+ "limb skeleton subdivision",
+ "absent material anatomical entity in the skeletal system",
+ "skull",
+ "Abnormal facial shape",
+ "root",
+ "incomplete closing of the trunk blood vessel",
+ "decreased multicellular organismal process",
+ "ectoderm-derived structure atresia",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "appendage",
+ "bone of pectoral complex morphology phenotype",
+ "decreased size of the anatomical structure",
+ "organ",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "appendicular skeleton morphology phenotype",
+ "bone of appendage girdle complex phenotype",
+ "decreased vibrational conductance of sound to the inner ear",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
+ "fused anatomical entity and skeletal joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "absent limb endochondral element",
+ "bone element phenotype",
+ "vestibulo-auditory system",
+ "endoderm-derived structure physiology phenotype",
+ "material anatomical entity morphology in the heart phenotype",
+ "absent limb endochondral element in the limb",
+ "neuron projection bundle",
+ "absent endochondral bone in the forelimb",
+ "absent material anatomical entity in the multicellular organism",
+ "sac",
+ "formed cerebellum",
+ "autopod region phenotype",
+ "absent radius bone in the forelimb",
+ "aplastic anatomical entity",
+ "nitrogen compound transport",
+ "malformed anatomical entity",
+ "absent forelimb endochondral element in the limb",
+ "embryo development rate phenotype",
+ "absent long bone",
+ "absent material anatomical entity in the limb",
+ "absent bone element in the limb",
+ "decreased size of the reproductive organ",
+ "camera-type eye physiology phenotype",
+ "Absent radius",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal size of pituitary gland",
+ "Growth abnormality",
+ "platelet",
+ "pelvic region element",
+ "Abnormal heart morphology",
+ "platelet phenotype",
+ "middle ear",
+ "number of platelet phenotype",
"regulation of biological process",
+ "decreased number of platelet",
+ "absent organ in the limb",
+ "Abnormal platelet count",
+ "Short finger",
+ "negative regulation of metabolic process phenotype",
+ "decreased size of the endochondral bone",
+ "aplasia or hypoplasia of manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "cornea, curved phenotype",
+ "cervical region of vertebral column",
+ "articulation",
+ "autopodial skeleton",
+ "fused vertebra and anatomical entity",
+ "digit 1 or 5",
+ "absent endochondral element",
+ "segmental subdivision of hindbrain",
"manual digit",
- "paired limb/fin skeleton phenotype",
- "skeletal element",
- "musculoskeletal system",
- "Abnormality of the gastrointestinal tract",
- "digestive system morphology phenotype",
- "anatomical structure atresia",
- "skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormality of the hypothalamus-pituitary axis",
- "ventricular system of brain",
- "aplasia or hypoplasia of skeleton",
- "decreased cellular process",
- "subdivision of skeletal system phenotype",
- "midface",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "decreased length of organism subdivision",
+ "gland phenotype",
+ "brain white matter morphology phenotype",
+ "decreased size of the organism subdivision",
+ "thyroid gland physiology phenotype",
+ "manus morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "digitopodium region",
+ "manual digit 1",
+ "artery phenotype",
+ "autopodial extension",
+ "Decreased body weight",
+ "metacarpal bone of digit 1 morphology phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "pectoral appendage skeleton",
+ "regulation of metabolic process",
+ "nervous system commissure phenotype",
+ "metacarpal bone of digit 1",
+ "Aplasia/Hypoplasia of fingers",
+ "organic substance transport",
"digit 1",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "absent multicellular anatomical structure in the skeletal system",
+ "decreased length of manual digit",
+ "viscus phenotype",
+ "regional part of nervous system",
+ "closing of the endoderm-derived structure",
+ "Aplasia/Hypoplasia of the thumb",
+ "septum pellucidum",
+ "Aplasia/hypoplasia involving bones of the hand",
"Abnormal digit morphology",
- "bone of pectoral complex phenotype",
- "decreased length of endochondral element",
- "system",
- "lateral structure phenotype",
- "anatomical collection phenotype",
- "arm phenotype",
- "central nervous system cell part cluster phenotype",
- "Neoplasm",
- "increased size of the anatomical entity",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "segmental subdivision of hindbrain",
- "trunk",
- "hemolymphoid system",
- "hematopoietic system",
- "anatomical cluster",
- "regulation of biological quality",
- "Growth delay",
- "biological_process",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "decreased transport",
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "irregular bone phenotype",
+ "autopodial extension phenotype",
+ "vertebral column phenotype",
+ "Abnormality of joint mobility",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "decreased developmental process",
+ "amide transport",
+ "Short thumb",
+ "absent bone of free limb or fin in the limb",
+ "Abnormal myeloid cell morphology",
+ "segmental subdivision of nervous system",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "decreased length of manual digit 1 or 5",
+ "arterial blood vessel",
+ "anatomical structure development",
+ "appendicular skeleton",
+ "Short digit",
+ "autopod endochondral element phenotype",
+ "autopod region morphology phenotype",
+ "decreased length of digit 1",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "Absent septum pellucidum",
+ "embryo development phenotype",
+ "Abnormality of the ureter",
+ "systemic artery",
"delayed biological_process",
+ "brain gray matter",
+ "embryo development",
"hypothalamus-pituitary axis phenotype",
- "decreased length of endochondral bone",
- "decreased qualitatively establishment of localization",
- "Short forearm",
+ "decreased functionality of the gland",
+ "decreased qualitatively developmental process",
+ "decreased functionality of the multicellular anatomical structure",
+ "Intrauterine growth retardation",
+ "absent multicellular anatomical structure in the forelimb",
+ "neuron projection bundle phenotype",
+ "decreased qualitatively embryo development",
+ "metacarpal bone morphology phenotype",
+ "Abnormal ear physiology",
+ "decreased qualitatively anatomical structure development",
+ "Growth delay",
+ "multicellular organism development",
+ "developmental process phenotype",
+ "external acoustic meatus atresia",
+ "radius bone",
"growth phenotype",
- "delayed growth",
- "subdivision of head",
- "developmental process rate phenotype",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased qualitatively multicellular organismal process",
- "Aplasia/Hypoplasia of the cerebrum",
- "decreased multicellular organism development",
- "decreased biological_process",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "Abnormality of the endocrine system",
+ "occurrent",
+ "middle ear phenotype",
+ "Myopia",
"anatomical structure development phenotype",
- "multicellular organismal process",
- "hindbrain",
- "secretion",
- "developmental process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
+ "Abnormality of the skin",
"biological_process rate phenotype",
- "multicellular organismal process phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organism development phenotype",
+ "absent anatomical structure in the limb",
+ "decreased qualitatively multicellular organismal process",
+ "Hearing impairment",
+ "limb bone morphology phenotype",
+ "nervous system process",
+ "number of myeloid cell phenotype",
+ "ear morphology phenotype",
+ "multi organ part structure physiology phenotype",
+ "decreased qualitatively nervous system process",
+ "digit 1 phenotype",
+ "multi organ part structure",
+ "face",
+ "decreased functionality of the thyroid gland",
+ "ear physiology phenotype",
+ "multi organ part structure phenotype",
+ "Conductive hearing impairment",
+ "middle ear physiology phenotype",
+ "system process",
+ "sensory perception phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "decreased length of phalanx of manus",
+ "decreased qualitatively system process",
+ "decreased sensory perception of sound",
+ "nervous system",
+ "anatomical system physiology phenotype",
+ "Abnormal ear morphology",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "absent organism subdivision in the multicellular organism",
+ "ductus arteriosus",
+ "sensory perception of sound phenotype",
+ "system process phenotype",
+ "decreased nervous system process",
+ "subdivision of organism along main body axis phenotype",
+ "cervical vertebra endochondral element phenotype",
+ "subdivision of tube",
+ "establishment of localization",
+ "cell-cell signaling",
+ "increased pigmentation in skin of body",
+ "ductus arteriosus morphology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "manual digit bone",
+ "decreased sensory perception",
+ "developmental process rate phenotype",
+ "closing of the anatomical conduit",
+ "Functional abnormality of the bladder",
+ "ear",
+ "gland morphology phenotype",
+ "neck bone phenotype",
+ "metapodial skeleton",
+ "negative regulation of cellular biosynthetic process",
+ "haemolymphatic fluid",
+ "bone of dorsum phenotype",
+ "dorsal part of neck",
+ "Short stature",
+ "Abnormality of the vertebral column",
+ "postcranial axial skeleton",
+ "protein-containing material entity",
+ "Abnormal neck morphology",
+ "optic disc morphology phenotype",
+ "negative regulation of gene expression",
+ "dorsal region element phenotype",
+ "neck phenotype",
+ "Abnormality of the neck",
+ "trunk or cervical vertebra",
"Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "formed material anatomical entity",
- "Abnormal response to endocrine stimulation test",
- "decreased qualitatively embryo development",
- "decreased qualitatively multicellular organism development",
- "decreased secretion",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormal endocrine morphology",
- "decreased embryo development",
- "increased number of viscus",
- "intestine phenotype",
- "increased number of organ",
- "decreased anatomical structure development",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "excretory system",
- "cerebellum",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "reproductive system",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "decreased qualitatively developmental process",
- "organism subdivision",
+ "dorsal region element",
+ "Abnormal limb bone morphology",
+ "decreased length of neck",
"central nervous system morphology phenotype",
- "increased size of the brain ventricle",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "decreased length of limb bone",
- "decreased localization",
- "ventricle of nervous system",
- "central nervous system",
- "decreased qualitatively transport",
+ "cervical vertebra endochondral element",
+ "cervical region",
+ "Abnormal axial skeleton morphology",
+ "vertebral column",
+ "postcranial axial skeletal system",
+ "vibrational conductance of sound to the inner ear",
+ "bladder organ physiology phenotype",
+ "neck",
+ "vertebral element phenotype",
+ "aplastic manual digit 1",
+ "absent organism subdivision",
+ "diencephalon",
+ "absent autopodial extension",
+ "organ part",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "U-shaped kidney",
+ "skeleton of manual digitopodium",
+ "Absent thumb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "shape anatomical entity",
+ "ventricular system of brain",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal pelvis/ureter",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "cornea",
+ "anterior segment of eyeball",
+ "shape cornea",
+ "Abnormal eye physiology",
+ "multicellular organism development phenotype",
+ "asymmetrically curved anatomical entity",
+ "curvature anatomical entity",
+ "manual digit morphology in the manus phenotype",
+ "neural crest-derived structure phenotype",
+ "fused vertebra and vertebra",
+ "neural crest-derived structure, curved phenotype",
+ "neck bone",
+ "intestine atresia",
"ventricular system of central nervous system",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "Abnormality of the lymphatic system",
- "Abnormality of the anterior pituitary",
- "anatomical wall phenotype",
- "increased size of the anatomical structure",
- "anatomical collection",
- "increased size of the organ part",
- "Polysplenia",
- "subdivision of head phenotype",
+ "cornea phenotype",
+ "Decreased head circumference",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "ocular surface region",
+ "brain morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "anatomical structure, curved phenotype",
+ "Hypothyroidism",
+ "interatrial septum perforation",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "decreased functionality of the anatomical entity",
+ "decreased functionality of the material anatomical entity",
+ "Abnormality of thyroid physiology",
+ "decreased functionality of the endoderm-derived structure",
+ "Abnormal cornea morphology",
+ "gland",
+ "decreased functionality of the organ",
+ "thyroid gland phenotype",
+ "gland physiology phenotype",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "absent radius bone",
+ "cranial skeletal system",
+ "anatomical entity dysfunction in independent continuant",
+ "Duodenal atresia",
+ "Abnormality of chromosome stability",
+ "cervical vertebra morphology phenotype",
+ "axial skeleton plus cranial skeleton morphology phenotype",
+ "neural crest-derived structure",
+ "dorsal part of neck morphology phenotype",
+ "skeletal joint",
+ "articulation phenotype",
+ "Abnormal joint physiology",
+ "decreased length of manual digit 1 metacarpus endochondral element",
+ "number of anatomical enitites of type organ phenotype",
+ "fused skeletal joint and skeletal joint",
+ "vertebra morphology phenotype",
+ "Abnormal vertebral morphology",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "negative regulation of biological process",
+ "fused anatomical entity and cervical vertebra",
+ "Abnormal musculoskeletal physiology",
+ "skeletal joint phenotype",
+ "skeletal joint morphology phenotype",
+ "absent forelimb zeugopod bone",
+ "Vertebral segmentation defect",
+ "decreased embryo development",
+ "musculoskeletal system phenotype",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "brain commissure",
+ "peptide transport",
+ "aplasia or hypoplasia of radius bone",
+ "musculoskeletal system physiology phenotype",
+ "metencephalon",
+ "fused cervical vertebra and cervical vertebra",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased qualitatively sensory perception",
+ "telencephalon morphology phenotype",
"brain ventricle morphology phenotype",
- "increased size of the brain ventricle/choroid plexus",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "decreased size of the forelimb bone",
- "main body axis",
- "anatomical wall",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "brain white matter",
+ "negative regulation of cellular process phenotype",
+ "Abnormal lateral ventricle morphology",
+ "telencephalon",
+ "telencephalic ventricle morphology phenotype",
+ "brain",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "decreased length of manual digit metacarpus endochondral element",
+ "artery",
+ "telencephalon phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "size of skull phenotype",
+ "regional part of brain phenotype",
+ "intercerebral commissure",
+ "Abnormal skull morphology",
+ "pituitary gland morphology phenotype",
+ "skull morphology phenotype",
+ "Abnormality of the outer ear",
+ "obsolete cell",
+ "urinary bladder",
+ "material anatomical entity mass phenotype",
+ "bladder organ phenotype",
+ "external acoustic meatus morphology phenotype",
+ "number of anatomical enitites of type neuron projection bundle phenotype",
"Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "increased size of the material anatomical entity",
- "Abnormal nervous system morphology",
- "increased size of the multicellular anatomical structure",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "ectoderm-derived structure",
- "brain ventricle phenotype",
- "absent anatomical structure in the limb",
+ "external ear phenotype",
+ "intestine phenotype",
+ "Abnormal auditory canal morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "external ear morphology phenotype",
+ "anatomical conduit phenotype",
+ "intestine",
+ "Decreased multicellular organism mass",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "transport phenotype",
+ "bone marrow cell",
+ "biological_process phenotype",
+ "upper limb segment",
+ "biological_process",
+ "multicellular organism phenotype",
+ "cellular process phenotype",
+ "forelimb zeugopod bone phenotype",
+ "decreased anatomical structure mass",
+ "aplasia or hypoplasia of manual digit",
+ "multicellular anatomical structure mass phenotype",
+ "multicellular organism mass phenotype",
+ "regulation of hormone levels",
+ "anatomical entity perforation",
+ "signaling",
+ "aplasia or hypoplasia of cranial nerve II",
+ "cavitated compound organ physiology phenotype",
+ "absent endochondral bone",
+ "signal release",
+ "growth hormone secretion",
+ "camera-type eye phenotype",
+ "peptide transport phenotype",
+ "secretion by cell phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "Abnormal growth hormone level",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "regulation of biological quality",
+ "Abnormality of neutrophils",
+ "secretion by cell",
+ "absent ectoderm-derived structure in the brain",
+ "peptide secretion phenotype",
+ "export from cell phenotype",
+ "trunk or cervical vertebra phenotype",
+ "chemical entity",
+ "biological regulation",
+ "Global developmental delay",
+ "abdominal segment of trunk",
+ "Aplasia/Hypoplasia of the optic nerve",
+ "localization",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "manus phenotype",
"peptide hormone secretion",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "nervous system",
- "increased size of the organ component layer",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "organ component layer phenotype",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "head",
- "digit",
- "acropodium region",
+ "regulation of hormone levels phenotype",
+ "amide transport phenotype",
+ "establishment of localization phenotype",
+ "Abnormality of the lower urinary tract",
+ "Abnormal circulating hormone concentration",
+ "Abnormal forearm morphology",
+ "posterior segment of eyeball morphology phenotype",
+ "export from cell",
+ "cell communication",
+ "hormone transport",
+ "Ventricular septal defect",
+ "small intestine",
+ "secretion",
+ "size of eyeball of camera-type eye phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "blood",
+ "anatomical cluster",
+ "absent anatomical entity in the multicellular organism",
+ "Microphthalmia",
"absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Aplasia/Hypoplasia of fingers",
- "aplastic manual digit 1",
- "manual digit 1 plus metapodial segment",
- "absent multicellular anatomical structure",
- "digit 1 phenotype",
- "endochondral element",
- "lymphatic part of lymphoid system",
- "myeloid cell",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "megakaryocyte morphology phenotype",
- "viscus phenotype",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "endocrine system morphology phenotype",
- "immune organ",
- "Abnormal hand morphology",
- "limb endochondral element phenotype",
- "size of brain ventricle phenotype",
- "digit morphology phenotype",
- "formed cerebellum",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "absent material anatomical entity in the multicellular organism",
- "autopod region morphology phenotype",
- "skull",
- "Abnormality of the hand",
+ "decreased size of the eyeball of camera-type eye",
+ "absent skeletal element",
+ "Hearing abnormality",
+ "Abnormal metencephalon morphology",
+ "decreased length of metapodium bone",
+ "closing of the organ part",
+ "anatomical entity morphology in the brain phenotype",
+ "formed multicellular anatomical structure",
+ "formed anatomical structure",
+ "absent anatomical structure in the brain",
+ "hindbrain morphology phenotype",
+ "Abnormal nervous system morphology",
+ "cerebellum",
+ "external acoustic meatus",
+ "cerebellum phenotype",
+ "brain commissure morphology phenotype",
+ "cranial nerve II phenotype",
+ "Aplasia/Hypoplasia affecting the fundus",
+ "Optic nerve hypoplasia",
+ "multi cell part structure phenotype",
+ "cranial nerve II hypoplasia",
+ "Functional abnormality of the middle ear",
+ "nervous system physiology phenotype",
+ "Neurodevelopmental abnormality",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure physiology phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression phenotype",
+ "regulation of cellular process phenotype",
+ "homeostatic process",
+ "paired limb/fin",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "absent limb endochondral element in the forelimb",
+ "regulation of cellular biosynthetic process",
+ "Abnormal cardiac septum morphology",
+ "metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular process",
+ "arm phenotype",
+ "regulation of cellular metabolic process",
+ "ectoderm-derived structure phenotype",
+ "regulation of biosynthetic process",
+ "Chromosomal breakage induced by crosslinking agents",
+ "regulation of macromolecule metabolic process",
+ "trunk region element physiology phenotype",
+ "bladder organ",
"renal/urinary system phenotype",
- "autopod region phenotype",
- "decreased regulation of hormone levels",
- "manus phenotype",
- "lymphoid system",
- "absent material anatomical entity in the forelimb",
- "Ventriculomegaly",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "absent digit",
- "endocrine gland",
- "decreased regulation of biological quality",
- "aplastic anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "increased number of multicellular anatomical structure",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent anatomical entity in the multicellular organism",
- "hematopoietic system morphology phenotype",
- "abdominal segment of trunk",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "endocrine system",
- "decreased size of the arm bone",
- "abdominal viscera",
+ "Abnormality of the upper urinary tract",
+ "sac physiology phenotype",
"renal system phenotype",
- "decreased peptide transport",
- "anatomical cluster phenotype",
- "duodenum",
- "trunk region element",
- "number of anatomical enitites of type organ phenotype",
- "adenohypophysis",
- "abdomen element phenotype",
- "disconnected anatomical group",
- "segment of autopod",
- "increased number of abdomen element",
- "immune system",
- "forelimb long bone phenotype",
- "number of anatomical enitites of type hemopoietic organ phenotype",
- "increased number of trunk region element",
- "increased number of material anatomical entity",
- "export from cell phenotype",
- "decreased qualitatively anatomical structure development",
- "Supernumerary spleens",
- "anterior region of body",
- "number of anatomical enitites of type immune organ phenotype",
- "cardiovascular system phenotype",
- "Abnormality of the abdominal organs",
- "decreased length of bone of free limb or fin",
- "vasculature phenotype",
- "appendicular skeleton phenotype",
- "spleen morphology phenotype",
- "subdivision of organism along main body axis",
- "face morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "abdominal segment element phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "decreased qualitatively cellular process",
+ "decreased length of metacarpal bone of digit 1",
+ "Abnormal cardiovascular system morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ phenotype",
+ "viscus physiology phenotype",
+ "multicellular anatomical structure",
+ "hematopoietic system",
+ "ureter phenotype",
+ "Vesicoureteral reflux",
+ "compound organ phenotype",
+ "excretory tube phenotype",
"non-connected functional system",
- "skeleton of limb phenotype",
- "vascular system",
- "subdivision of tube atresia",
- "circulatory system",
- "Opisthokonta",
- "increased number of anatomical entity in the abdomen",
+ "lower urinary tract phenotype",
+ "musculoskeletal system",
+ "Short neck",
+ "abdominal segment element",
+ "manual digit 1 phalanx endochondral element",
+ "excretory tube",
"Limb undergrowth",
- "number of anatomical enitites of type viscus phenotype",
- "lymphatic part of lymphoid system phenotype",
- "Eukaryota",
- "anatomical system phenotype",
- "increased number of anatomical structure in the abdomen",
- "hemopoietic organ phenotype",
- "trunk phenotype",
- "decreased signal release",
- "reproductive structure",
- "long bone",
- "decreased biological_process in brain",
- "decreased peptide secretion",
+ "genitourinary system",
],
},
],
diff --git a/backend/tests/integration/test_solr_association.py b/backend/tests/integration/test_solr_association.py
index fd74a91c1..22cdde079 100644
--- a/backend/tests/integration/test_solr_association.py
+++ b/backend/tests/integration/test_solr_association.py
@@ -68,12 +68,7 @@ def test_entity():
assert response
assert response.total > 50
for association in response.items:
- if association.subject_closure is None or len(association.subject_closure) == 0:
- assert "MONDO:0007947" in association.object_closure
- elif association.object_closure is None or len(association.object_closure) == 0:
- assert "MONDO:0007947" in association.subject_closure
- else:
- assert "MONDO:0007947" in association.subject_closure or "MONDO:0007947" in association.object_closure
+ assert "MONDO:0007947" in association.subject_closure or "MONDO:0007947" in association.object_closure
@pytest.mark.parametrize("q", ["eyebrow", "thick", "Thick", "Thick eyebrow", "thick eyebrow"])
diff --git a/docs/API-Reference/index.md b/docs/API-Reference/index.md
new file mode 100644
index 000000000..a07e72be9
--- /dev/null
+++ b/docs/API-Reference/index.md
@@ -0,0 +1,17 @@
+# API Reference
+
+This section outlines the monarch-py API.
+
+Here you can find detailed documentation and source code for its interfaces and implementations.
+
+## Interfaces
+
+::: src.monarch_py.interfaces.entity_interface
+::: src.monarch_py.interfaces.association_interface
+::: src.monarch_py.interfaces.search_interface
+
+
+## Implementations
+::: src.monarch_py.implementations.solr.solr_implementation
+::: src.monarch_py.implementations.sql.sql_implementation
+
diff --git a/docs/Usage/CLI.md b/docs/Usage/CLI.md
index d12fbc9f4..27980e720 100644
--- a/docs/Usage/CLI.md
+++ b/docs/Usage/CLI.md
@@ -8,22 +8,22 @@ $ monarch [OPTIONS] COMMAND [ARGS]...
**Options**:
-* `-v, --version`: Show the currently installed version
-* `-q, --quiet`: Set log level to warning
-* `-d, --debug`: Set log level to debug
+* `--version / --no-version`
+* `--quiet / --no-quiet`: [default: no-quiet]
+* `--debug / --no-debug`: [default: no-debug]
* `--install-completion`: Install completion for the current shell.
* `--show-completion`: Show completion for the current shell, to copy it or customize the installation.
* `--help`: Show this message and exit.
**Commands**:
-* `association-counts`: Retrieve the association counts for a...
+* `association-counts`: Retrieve association counts for an entity...
* `association-table`
* `associations`: Paginate through associations
* `autocomplete`: Return entity autcomplete matches for a...
* `compare`: Compare two sets of phenotypes using...
* `entity`: Retrieve an entity by ID
-* `histopheno`: Retrieve the histopheno associations for a...
+* `histopheno`: Retrieve the histopheno data for an entity...
* `mappings`
* `multi-entity-associations`: Paginate through associations for multiple...
* `release`: Retrieve metadata for a specific release
@@ -36,22 +36,30 @@ $ monarch [OPTIONS] COMMAND [ARGS]...
## `monarch association-counts`
-Retrieve the association counts for a given entity
+Retrieve association counts for an entity by ID
+
+Args:
+ entity: The entity to get association counts for
+ fmt: The format of the output (json, yaml, tsv, table). Default JSON
+ output: The path to the output file. Default stdout
+
+Returns:
+ A list of association counts for the given entity containing association type, label and count
**Usage**:
```console
-$ monarch association-counts [OPTIONS] ENTITY_ID
+$ monarch association-counts [OPTIONS] [ENTITY]
```
**Arguments**:
-* `ENTITY_ID`: The entity to get association counts for [required]
+* `[ENTITY]`: The entity to get association counts for
**Options**:
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch association-table`
@@ -59,29 +67,41 @@ $ monarch association-counts [OPTIONS] ENTITY_ID
**Usage**:
```console
-$ monarch association-table [OPTIONS] ENTITY_ID CATEGORY:{biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:VariantToGeneAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:GenotypeToPhenotypicFeatureAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:DiseaseOrPhenotypicFeatureToLocationAssociation|biolink:ChemicalToPathwayAssociation|biolink:GenotypeToDiseaseAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:VariantToDiseaseAssociation|biolink:CausalGeneToDiseaseAssociation|biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation}
+$ monarch association-table [OPTIONS] ENTITY CATEGORY:{biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:ChemicalToPathwayAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:CausalGeneToDiseaseAssociation}
```
**Arguments**:
-* `ENTITY_ID`: The entity to get associations for [required]
-* `CATEGORY:{biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:VariantToGeneAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:GenotypeToPhenotypicFeatureAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:DiseaseOrPhenotypicFeatureToLocationAssociation|biolink:ChemicalToPathwayAssociation|biolink:GenotypeToDiseaseAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:VariantToDiseaseAssociation|biolink:CausalGeneToDiseaseAssociation|biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation}`: The association category to get associations for, ex. biolink:GeneToPhenotypicFeatureAssociation [required]
+* `ENTITY`: The entity to get associations for [required]
+* `CATEGORY:{biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:ChemicalToPathwayAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:CausalGeneToDiseaseAssociation}`: The association category to get associations for, ex. biolink:GeneToPhenotypicFeatureAssociation [required]
**Options**:
* `-q, --query TEXT`
* `-t, --traverse-orthologs`: Whether to traverse orthologs when getting associations
* `-s, --sort TEXT`
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-l, --limit INTEGER`: [default: 5]
+* `--offset INTEGER`: [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch associations`
Paginate through associations
+Args:
+ category: A comma-separated list of categories
+ subject: A comma-separated list of subjects
+ predicate: A comma-separated list of predicates
+ object: A comma-separated list of objects
+ entity: A comma-separated list of entities
+ limit: The number of associations to return
+ direct: Whether to exclude associations with subject/object as ancestors
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
@@ -90,37 +110,42 @@ $ monarch associations [OPTIONS]
**Options**:
-* `-c, --category [biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:VariantToGeneAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:GenotypeToPhenotypicFeatureAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:DiseaseOrPhenotypicFeatureToLocationAssociation|biolink:ChemicalToPathwayAssociation|biolink:GenotypeToDiseaseAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:VariantToDiseaseAssociation|biolink:CausalGeneToDiseaseAssociation|biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation]`: Category to get associations for
+* `-c, --category [biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:ChemicalToPathwayAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:CausalGeneToDiseaseAssociation]`: Category to get associations for
* `-s, --subject TEXT`: Subject ID to get associations for
-* `-p, --predicate [biolink:interacts_with|biolink:expressed_in|biolink:has_phenotype|biolink:is_sequence_variant_of|biolink:enables|biolink:actively_involved_in|biolink:orthologous_to|biolink:located_in|biolink:subclass_of|biolink:related_to|biolink:participates_in|biolink:acts_upstream_of_or_within|biolink:active_in|biolink:part_of|biolink:model_of|biolink:causes|biolink:acts_upstream_of|biolink:has_mode_of_inheritance|biolink:contributes_to|biolink:gene_associated_with_condition|biolink:treats_or_applied_or_studied_to_treat|biolink:colocalizes_with|biolink:acts_upstream_of_positive_effect|biolink:acts_upstream_of_or_within_positive_effect|biolink:acts_upstream_of_negative_effect|biolink:acts_upstream_of_or_within_negative_effect]`: Predicate ID to get associations for
+* `-p, --predicate [biolink:interacts_with|biolink:expressed_in|biolink:has_phenotype|biolink:enables|biolink:actively_involved_in|biolink:orthologous_to|biolink:located_in|biolink:subclass_of|biolink:participates_in|biolink:acts_upstream_of_or_within|biolink:related_to|biolink:active_in|biolink:part_of|biolink:acts_upstream_of|biolink:has_mode_of_inheritance|biolink:gene_associated_with_condition|biolink:contributes_to|biolink:causes|biolink:colocalizes_with|biolink:acts_upstream_of_or_within_positive_effect|biolink:acts_upstream_of_positive_effect|biolink:acts_upstream_of_or_within_negative_effect|biolink:acts_upstream_of_negative_effect]`: Predicate ID to get associations for
* `-o, --object TEXT`: Object ID to get associations for
* `-e, --entity TEXT`: Entity (subject or object) ID to get associations for
* `-d, --direct`: Whether to exclude associations with subject/object as ancestors
* `-C, --compact`: Whether to return a compact representation of the associations
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-l, --limit INTEGER`: The number of associations to return [default: 20]
+* `--offset INTEGER`: The offset of the first association to be retrieved [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch autocomplete`
Return entity autcomplete matches for a query string
+Args:
+ q: The query string to autocomplete against
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
-$ monarch autocomplete [OPTIONS] Q
+$ monarch autocomplete [OPTIONS] [Q]
```
**Arguments**:
-* `Q`: Query string to autocomplete against [required]
+* `[Q]`: Query string to autocomplete against
**Options**:
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch compare`
@@ -141,49 +166,61 @@ $ monarch compare [OPTIONS] SUBJECTS OBJECTS
**Options**:
* `-m, --metric [ancestor_information_content|jaccard_similarity|phenodigm_score]`: The metric to use for comparison [default: ancestor_information_content]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch entity`
Retrieve an entity by ID
+Args:
+ id: The identifier of the entity to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
-$ monarch entity [OPTIONS] ENTITY_ID
+$ monarch entity [OPTIONS] [ID]
```
**Arguments**:
-* `ENTITY_ID`: The identifier of the entity to be retrieved [required]
+* `[ID]`: The identifier of the entity to be retrieved
**Options**:
* `-e, --extra`: Include extra fields in the output (association_counts and node_hierarchy)
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch histopheno`
-Retrieve the histopheno associations for a given subject
+Retrieve the histopheno data for an entity by ID
+
+Args:
+ subject: The subject of the association
+
+Optional Args:
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
**Usage**:
```console
-$ monarch histopheno [OPTIONS] SUBJECT
+$ monarch histopheno [OPTIONS] [SUBJECT]
```
**Arguments**:
-* `SUBJECT`: The subject of the association [required]
+* `[SUBJECT]`: The subject of the association
**Options**:
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch mappings`
@@ -198,19 +235,27 @@ $ monarch mappings [OPTIONS]
* `-e, --entity-id TEXT`: entity ID to get mappings for
* `-s, --subject-id TEXT`: subject ID to get mappings for
-* `-p, --predicate-id [skos:exactMatch|skos:broadMatch]`: predicate ID to get mappings for
+* `-p, --predicate-id [skos:exactMatch|skos:closeMatch|skos:broadMatch|skos:narrowMatch]`: predicate ID to get mappings for
* `-o, --object-id TEXT`: object ID to get mappings for
* `-m, --mapping-justification TEXT`: mapping justification to get mappings for
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `--offset INTEGER`: The offset of the first mapping to be retrieved [default: 0]
+* `-l, --limit INTEGER`: The number of mappings to return [default: 20]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch multi-entity-associations`
Paginate through associations for multiple entities
+Args:
+ entity: A comma-separated list of entities
+ counterpart_category: A comma-separated list of counterpart categories
+ limit: The number of associations to return
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
@@ -220,31 +265,36 @@ $ monarch multi-entity-associations [OPTIONS]
**Options**:
* `-e, --entity TEXT`: Comma-separated list of entities
-* `-c, --counterpart-category TEXT`: A comma-separated list of counterpart categories
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-c, --counterpart-category TEXT`
+* `-l, --limit INTEGER`: [default: 20]
+* `--offset INTEGER`: [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-o, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch release`
Retrieve metadata for a specific release
+Args:
+ release_ver: The release version to get metadata for
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
-$ monarch release [OPTIONS] RELEASE_VER
+$ monarch release [OPTIONS] [RELEASE_VER]
```
**Arguments**:
-* `RELEASE_VER`: The release version to get metadata for [required]
+* `[RELEASE_VER]`: The release version to get metadata for
**Options**:
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch releases`
@@ -260,7 +310,7 @@ $ monarch releases [OPTIONS]
**Options**:
* `--dev`: Get dev releases of the KG (default is False)
-* `-l, --limit INTEGER`: The number of results to return [default: 0]
+* `-l, --limit INTEGER`: The number of releases to return [default: 0]
* `--help`: Show this message and exit.
## `monarch schema`
@@ -281,6 +331,15 @@ $ monarch schema [OPTIONS]
Search for entities
+Args:
+ q: The query string to search for
+ category: The category of the entity
+ in_taxon_label: The taxon label to filter by
+ limit: The number of entities to return
+ offset: The offset of the first entity to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
@@ -289,15 +348,15 @@ $ monarch search [OPTIONS]
**Options**:
-* `-q, --query TEXT`: [default: :*]
-* `-c, --category [biolink:SequenceVariant|biolink:Gene|biolink:Genotype|biolink:PhenotypicFeature|biolink:BiologicalProcessOrActivity|biolink:Disease|biolink:GrossAnatomicalStructure|biolink:Cell|biolink:Pathway|biolink:NamedThing|biolink:AnatomicalEntity|biolink:CellularComponent|biolink:MolecularEntity|biolink:BiologicalProcess|biolink:MacromolecularComplex|biolink:MolecularActivity|biolink:Protein|biolink:CellularOrganism|biolink:Vertebrate|biolink:Virus|biolink:BehavioralFeature|biolink:ChemicalEntity|biolink:LifeStage|biolink:PathologicalProcess|biolink:Drug|biolink:SmallMolecule|biolink:OrganismTaxon|biolink:InformationContentEntity|biolink:NucleicAcidEntity|biolink:EvidenceType|biolink:RNAProduct|biolink:Transcript|biolink:Fungus|biolink:Plant|biolink:ProcessedMaterial|biolink:Activity|biolink:Agent|biolink:ConfidenceLevel|biolink:Dataset|biolink:EnvironmentalFeature|biolink:GeneticInheritance|biolink:Haplotype|biolink:Invertebrate|biolink:Mammal|biolink:PopulationOfIndividualOrganisms|biolink:ProteinFamily|biolink:Publication|biolink:AccessibleDnaRegion|biolink:Bacterium|biolink:BiologicalSex|biolink:CellLine|biolink:ChemicalExposure|biolink:ChemicalMixture|biolink:DatasetDistribution|biolink:DiagnosticAid|biolink:DrugExposure|biolink:EnvironmentalProcess|biolink:Event|biolink:Exon|biolink:Genome|biolink:GenotypicSex|biolink:Human|biolink:IndividualOrganism|biolink:MaterialSample|biolink:MicroRNA|biolink:OrganismalEntity|biolink:Patent|biolink:PhenotypicSex|biolink:Polypeptide|biolink:ProteinDomain|biolink:ReagentTargetedGene|biolink:RegulatoryRegion|biolink:SiRNA|biolink:Snv|biolink:Study|biolink:StudyVariable|biolink:TranscriptionFactorBindingSite|biolink:Treatment|biolink:WebPage|biolink:Zygosity]`
+* `-q, --query TEXT`
+* `-c, --category [biolink:Gene|biolink:PhenotypicFeature|biolink:BiologicalProcessOrActivity|biolink:GrossAnatomicalStructure|biolink:Disease|biolink:Pathway|biolink:Cell|biolink:NamedThing|biolink:AnatomicalEntity|biolink:CellularComponent|biolink:MolecularEntity|biolink:BiologicalProcess|biolink:MacromolecularComplex|biolink:MolecularActivity|biolink:Protein|biolink:CellularOrganism|biolink:PhenotypicQuality|biolink:Vertebrate|biolink:Virus|biolink:BehavioralFeature|biolink:LifeStage|biolink:PathologicalProcess|biolink:ChemicalEntity|biolink:Drug|biolink:OrganismTaxon|biolink:SequenceVariant|biolink:SmallMolecule|biolink:InformationContentEntity|biolink:NucleicAcidEntity|biolink:EvidenceType|biolink:GeographicExposure|biolink:RNAProduct|biolink:Transcript|biolink:Fungus|biolink:Plant|biolink:Dataset|biolink:Invertebrate|biolink:PopulationOfIndividualOrganisms|biolink:ProteinFamily|biolink:Activity|biolink:Agent|biolink:ChemicalExposure|biolink:ConfidenceLevel|biolink:EnvironmentalFeature|biolink:Exon|biolink:GeneticInheritance|biolink:Genome|biolink:Genotype|biolink:Haplotype|biolink:Human|biolink:IndividualOrganism|biolink:Mammal|biolink:MaterialSample|biolink:MicroRNA|biolink:Patent|biolink:ProteinDomain|biolink:Publication|biolink:RegulatoryRegion|biolink:Study|biolink:Treatment|biolink:WebPage|biolink:AccessibleDnaRegion|biolink:Article|biolink:Attribute|biolink:Bacterium|biolink:BiologicalEntity|biolink:BiologicalSex|biolink:CellLine|biolink:ChemicalMixture|biolink:CodingSequence|biolink:DatasetDistribution|biolink:DiagnosticAid|biolink:DrugExposure|biolink:EnvironmentalProcess|biolink:Event|biolink:GenotypicSex|biolink:NoncodingRNAProduct|biolink:OrganismalEntity|biolink:PhenotypicSex|biolink:Polypeptide|biolink:Procedure|biolink:ProcessedMaterial|biolink:ReagentTargetedGene|biolink:SiRNA|biolink:Snv|biolink:StudyVariable|biolink:TranscriptionFactorBindingSite|biolink:Zygosity]`
* `-t, --in-taxon-label TEXT`
* `-ff, --facet-fields TEXT`
-* `-fq, --facet-queries TEXT`
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `--facet-queries TEXT`
+* `-l, --limit INTEGER`: [default: 20]
+* `--offset INTEGER`: [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch solr`
@@ -310,8 +369,8 @@ $ monarch solr [OPTIONS] COMMAND [ARGS]...
**Options**:
-* `-q, --quiet`: Set log level to warning
-* `-d, --debug`: Set log level to debug
+* `--quiet / --no-quiet`: [default: no-quiet]
+* `--debug / --no-debug`: [default: no-debug]
* `--help`: Show this message and exit.
**Commands**:
@@ -334,20 +393,27 @@ $ monarch solr [OPTIONS] COMMAND [ARGS]...
Retrieve the association counts for a given entity
+Args:
+ entity (str): The entity to get association counts for
+
+Optional Args:
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
+
**Usage**:
```console
-$ monarch solr association-counts [OPTIONS] ENTITY_ID
+$ monarch solr association-counts [OPTIONS] [ENTITY]
```
**Arguments**:
-* `ENTITY_ID`: The entity to get association counts for [required]
+* `[ENTITY]`: The entity to get association counts for
**Options**:
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr association-table`
@@ -355,29 +421,41 @@ $ monarch solr association-counts [OPTIONS] ENTITY_ID
**Usage**:
```console
-$ monarch solr association-table [OPTIONS] ENTITY_ID CATEGORY:{biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:VariantToGeneAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:GenotypeToPhenotypicFeatureAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:DiseaseOrPhenotypicFeatureToLocationAssociation|biolink:ChemicalToPathwayAssociation|biolink:GenotypeToDiseaseAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:VariantToDiseaseAssociation|biolink:CausalGeneToDiseaseAssociation|biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation}
+$ monarch solr association-table [OPTIONS] ENTITY [CATEGORY]:[biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:ChemicalToPathwayAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:CausalGeneToDiseaseAssociation]
```
**Arguments**:
-* `ENTITY_ID`: The entity to get associations for [required]
-* `CATEGORY:{biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:VariantToGeneAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:GenotypeToPhenotypicFeatureAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:DiseaseOrPhenotypicFeatureToLocationAssociation|biolink:ChemicalToPathwayAssociation|biolink:GenotypeToDiseaseAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:VariantToDiseaseAssociation|biolink:CausalGeneToDiseaseAssociation|biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation}`: The association category to get associations for, ex. biolink:GeneToPhenotypicFeatureAssociation [required]
+* `ENTITY`: The entity to get associations for [required]
+* `[CATEGORY]:[biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:ChemicalToPathwayAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:CausalGeneToDiseaseAssociation]`: The association category to get associations for, ex. biolink:GeneToPhenotypicFeatureAssociation
**Options**:
-* `-q, --query TEXT`
* `-t, --traverse-orthologs`: Whether to traverse orthologs when getting associations
+* `-q, --query TEXT`
* `-s, --sort TEXT`
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-l, --limit INTEGER`: [default: 5]
+* `--offset INTEGER`: [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr associations`
Paginate through associations
+Args:
+ category: The category of the association (multi-valued)
+ subject: The subject of the association (multi-valued)
+ predicate: The predicate of the association (multi-valued)
+ object: The object of the association (multi-valued)
+ entity: The entity (subject or object) of the association (multi-valued)
+ limit: The number of associations to return (default 20)
+ direct: Whether to exclude associations with subject/object as ancestors (default False)
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table) (default json)
+ output: The path to the output file (stdout if not specified) (default None)
+
**Usage**:
```console
@@ -386,37 +464,42 @@ $ monarch solr associations [OPTIONS]
**Options**:
-* `-c, --category [biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:VariantToGeneAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:GenotypeToPhenotypicFeatureAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:DiseaseOrPhenotypicFeatureToLocationAssociation|biolink:ChemicalToPathwayAssociation|biolink:GenotypeToDiseaseAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:VariantToDiseaseAssociation|biolink:CausalGeneToDiseaseAssociation|biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation]`: Category to get associations for
+* `-c, --category [biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:ChemicalToPathwayAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:CausalGeneToDiseaseAssociation]`: Category to get associations for
* `-s, --subject TEXT`: Subject ID to get associations for
-* `-p, --predicate [biolink:interacts_with|biolink:expressed_in|biolink:has_phenotype|biolink:is_sequence_variant_of|biolink:enables|biolink:actively_involved_in|biolink:orthologous_to|biolink:located_in|biolink:subclass_of|biolink:related_to|biolink:participates_in|biolink:acts_upstream_of_or_within|biolink:active_in|biolink:part_of|biolink:model_of|biolink:causes|biolink:acts_upstream_of|biolink:has_mode_of_inheritance|biolink:contributes_to|biolink:gene_associated_with_condition|biolink:treats_or_applied_or_studied_to_treat|biolink:colocalizes_with|biolink:acts_upstream_of_positive_effect|biolink:acts_upstream_of_or_within_positive_effect|biolink:acts_upstream_of_negative_effect|biolink:acts_upstream_of_or_within_negative_effect]`: Predicate ID to get associations for
+* `-p, --predicate [biolink:interacts_with|biolink:expressed_in|biolink:has_phenotype|biolink:enables|biolink:actively_involved_in|biolink:orthologous_to|biolink:located_in|biolink:subclass_of|biolink:participates_in|biolink:acts_upstream_of_or_within|biolink:related_to|biolink:active_in|biolink:part_of|biolink:acts_upstream_of|biolink:has_mode_of_inheritance|biolink:gene_associated_with_condition|biolink:contributes_to|biolink:causes|biolink:colocalizes_with|biolink:acts_upstream_of_or_within_positive_effect|biolink:acts_upstream_of_positive_effect|biolink:acts_upstream_of_or_within_negative_effect|biolink:acts_upstream_of_negative_effect]`: Predicate ID to get associations for
* `-o, --object TEXT`: Object ID to get associations for
* `-e, --entity TEXT`: Entity (subject or object) ID to get associations for
* `-d, --direct`: Whether to exclude associations with subject/object as ancestors
* `-C, --compact`: Whether to return a compact representation of the associations
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-l, --limit INTEGER`: The number of associations to return [default: 20]
+* `--offset INTEGER`: The offset of the first association to be retrieved [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr autocomplete`
Return entity autcomplete matches for a query string
+Args:
+ q: The query string to autocomplete against
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
-$ monarch solr autocomplete [OPTIONS] Q
+$ monarch solr autocomplete [OPTIONS] [Q]
```
**Arguments**:
-* `Q`: Query string to autocomplete against [required]
+* `[Q]`: Query string to autocomplete against
**Options**:
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr download`
@@ -426,57 +509,68 @@ Download the Monarch Solr KG.
**Usage**:
```console
-$ monarch solr download [OPTIONS] [VERSION]
+$ monarch solr download [OPTIONS]
```
-**Arguments**:
-
-* `[VERSION]`: The version of the Solr KG to download (latest, dev, or a specific version) [default: latest]
-
**Options**:
-* `--overwrite`: Overwrite the existing Solr KG if it exists
+* `--version TEXT`: [default: latest]
+* `--overwrite / --no-overwrite`: [default: no-overwrite]
* `--help`: Show this message and exit.
### `monarch solr entity`
Retrieve an entity by ID
+Args:
+ id (str): The identifier of the entity to be retrieved
+
+Optional Args:
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
+
**Usage**:
```console
-$ monarch solr entity [OPTIONS] ENTITY_ID
+$ monarch solr entity [OPTIONS] [ID]
```
**Arguments**:
-* `ENTITY_ID`: The identifier of the entity to be retrieved [required]
+* `[ID]`: The identifier of the entity to be retrieved
**Options**:
* `-e, --extra`: Include extra fields in the output (association_counts and node_hierarchy)
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr histopheno`
Retrieve the histopheno associations for a given subject
+Args:
+ subject (str): The subject of the association
+
+Optional Args:
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
+
**Usage**:
```console
-$ monarch solr histopheno [OPTIONS] SUBJECT
+$ monarch solr histopheno [OPTIONS] [SUBJECT]
```
**Arguments**:
-* `SUBJECT`: The subject of the association [required]
+* `[SUBJECT]`: The subject of the association
**Options**:
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: JSON]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr mappings`
@@ -491,19 +585,27 @@ $ monarch solr mappings [OPTIONS]
* `-e, --entity-id TEXT`: entity ID to get mappings for
* `-s, --subject-id TEXT`: subject ID to get mappings for
-* `-p, --predicate-id [skos:exactMatch|skos:broadMatch]`: predicate ID to get mappings for
+* `-p, --predicate-id [skos:exactMatch|skos:closeMatch|skos:broadMatch|skos:narrowMatch]`: predicate ID to get mappings for
* `-o, --object-id TEXT`: object ID to get mappings for
* `-m, --mapping-justification TEXT`: mapping justification to get mappings for
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `--offset INTEGER`: The offset of the first mapping to be retrieved [default: 0]
+* `-l, --limit INTEGER`: The number of mappings to return [default: 20]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr multi-entity-associations`
Paginate through associations for multiple entities
+Args:
+ entity: A comma-separated list of entities
+ counterpart_category: A comma-separated list of counterpart categories
+ limit: The number of associations to return
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
@@ -512,18 +614,29 @@ $ monarch solr multi-entity-associations [OPTIONS]
**Options**:
-* `-e, --entity TEXT`: Comma-separated list of entities
-* `-c, --counterpart-category TEXT`: A comma-separated list of counterpart categories
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-e, --entity TEXT`: Entity ID to get associations for
+* `-c, --counterpart-category TEXT`: Counterpart category to get associations for
+* `-l, --limit INTEGER`: [default: 20]
+* `--offset INTEGER`: [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr search`
Search for entities
+Optional Args:
+ q: The query string to search for
+ category: The category of the entity
+ in_taxon_label: The taxon label to filter on
+ facet_fields: The fields to facet on
+ facet_queries: The queries to facet on
+ limit: The number of entities to return
+ offset: The offset of the first entity to be retrieved
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
+
**Usage**:
```console
@@ -532,15 +645,15 @@ $ monarch solr search [OPTIONS]
**Options**:
-* `-q, --query TEXT`: [default: :*]
-* `-c, --category [biolink:SequenceVariant|biolink:Gene|biolink:Genotype|biolink:PhenotypicFeature|biolink:BiologicalProcessOrActivity|biolink:Disease|biolink:GrossAnatomicalStructure|biolink:Cell|biolink:Pathway|biolink:NamedThing|biolink:AnatomicalEntity|biolink:CellularComponent|biolink:MolecularEntity|biolink:BiologicalProcess|biolink:MacromolecularComplex|biolink:MolecularActivity|biolink:Protein|biolink:CellularOrganism|biolink:Vertebrate|biolink:Virus|biolink:BehavioralFeature|biolink:ChemicalEntity|biolink:LifeStage|biolink:PathologicalProcess|biolink:Drug|biolink:SmallMolecule|biolink:OrganismTaxon|biolink:InformationContentEntity|biolink:NucleicAcidEntity|biolink:EvidenceType|biolink:RNAProduct|biolink:Transcript|biolink:Fungus|biolink:Plant|biolink:ProcessedMaterial|biolink:Activity|biolink:Agent|biolink:ConfidenceLevel|biolink:Dataset|biolink:EnvironmentalFeature|biolink:GeneticInheritance|biolink:Haplotype|biolink:Invertebrate|biolink:Mammal|biolink:PopulationOfIndividualOrganisms|biolink:ProteinFamily|biolink:Publication|biolink:AccessibleDnaRegion|biolink:Bacterium|biolink:BiologicalSex|biolink:CellLine|biolink:ChemicalExposure|biolink:ChemicalMixture|biolink:DatasetDistribution|biolink:DiagnosticAid|biolink:DrugExposure|biolink:EnvironmentalProcess|biolink:Event|biolink:Exon|biolink:Genome|biolink:GenotypicSex|biolink:Human|biolink:IndividualOrganism|biolink:MaterialSample|biolink:MicroRNA|biolink:OrganismalEntity|biolink:Patent|biolink:PhenotypicSex|biolink:Polypeptide|biolink:ProteinDomain|biolink:ReagentTargetedGene|biolink:RegulatoryRegion|biolink:SiRNA|biolink:Snv|biolink:Study|biolink:StudyVariable|biolink:TranscriptionFactorBindingSite|biolink:Treatment|biolink:WebPage|biolink:Zygosity]`
+* `-q, --query TEXT`: [default: *:*]
+* `-c, --category [biolink:Gene|biolink:PhenotypicFeature|biolink:BiologicalProcessOrActivity|biolink:GrossAnatomicalStructure|biolink:Disease|biolink:Pathway|biolink:Cell|biolink:NamedThing|biolink:AnatomicalEntity|biolink:CellularComponent|biolink:MolecularEntity|biolink:BiologicalProcess|biolink:MacromolecularComplex|biolink:MolecularActivity|biolink:Protein|biolink:CellularOrganism|biolink:PhenotypicQuality|biolink:Vertebrate|biolink:Virus|biolink:BehavioralFeature|biolink:LifeStage|biolink:PathologicalProcess|biolink:ChemicalEntity|biolink:Drug|biolink:OrganismTaxon|biolink:SequenceVariant|biolink:SmallMolecule|biolink:InformationContentEntity|biolink:NucleicAcidEntity|biolink:EvidenceType|biolink:GeographicExposure|biolink:RNAProduct|biolink:Transcript|biolink:Fungus|biolink:Plant|biolink:Dataset|biolink:Invertebrate|biolink:PopulationOfIndividualOrganisms|biolink:ProteinFamily|biolink:Activity|biolink:Agent|biolink:ChemicalExposure|biolink:ConfidenceLevel|biolink:EnvironmentalFeature|biolink:Exon|biolink:GeneticInheritance|biolink:Genome|biolink:Genotype|biolink:Haplotype|biolink:Human|biolink:IndividualOrganism|biolink:Mammal|biolink:MaterialSample|biolink:MicroRNA|biolink:Patent|biolink:ProteinDomain|biolink:Publication|biolink:RegulatoryRegion|biolink:Study|biolink:Treatment|biolink:WebPage|biolink:AccessibleDnaRegion|biolink:Article|biolink:Attribute|biolink:Bacterium|biolink:BiologicalEntity|biolink:BiologicalSex|biolink:CellLine|biolink:ChemicalMixture|biolink:CodingSequence|biolink:DatasetDistribution|biolink:DiagnosticAid|biolink:DrugExposure|biolink:EnvironmentalProcess|biolink:Event|biolink:GenotypicSex|biolink:NoncodingRNAProduct|biolink:OrganismalEntity|biolink:PhenotypicSex|biolink:Polypeptide|biolink:Procedure|biolink:ProcessedMaterial|biolink:ReagentTargetedGene|biolink:SiRNA|biolink:Snv|biolink:StudyVariable|biolink:TranscriptionFactorBindingSite|biolink:Zygosity]`
* `-t, --in-taxon-label TEXT`
* `-ff, --facet-fields TEXT`
-* `-fq, --facet-queries TEXT`
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `--facet-queries TEXT`
+* `-l, --limit INTEGER`: [default: 20]
+* `--offset INTEGER`: [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-O, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch solr start`
@@ -596,8 +709,8 @@ $ monarch sql [OPTIONS] COMMAND [ARGS]...
**Options**:
-* `-q, --quiet`: Set log level to warning
-* `-d, --debug`: Set log level to debug
+* `--quiet / --no-quiet`: [default: no-quiet]
+* `--debug / --no-debug`: [default: no-debug]
* `--help`: Show this message and exit.
**Commands**:
@@ -609,6 +722,19 @@ $ monarch sql [OPTIONS] COMMAND [ARGS]...
Paginate through associations
+Args:
+ category: A comma-separated list of categories
+ subject: A comma-separated list of subjects
+ predicate: A comma-separated list of predicates
+ object: A comma-separated list of objects
+ entity: A comma-separated list of entities
+ direct: Whether to exclude associations with subject/object as ancestors
+ compact: Whether to return a compact representation of the associations
+ limit: The number of associations to return
+ offset: The offset of the first association to be retrieved
+ fmt: The format of the output (json, yaml, tsv, table)
+ output: The path to the output file (stdout if not specified)
+
**Usage**:
```console
@@ -617,39 +743,45 @@ $ monarch sql associations [OPTIONS]
**Options**:
-* `-c, --category [biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:VariantToGeneAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:GenotypeToPhenotypicFeatureAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:DiseaseOrPhenotypicFeatureToLocationAssociation|biolink:ChemicalToPathwayAssociation|biolink:GenotypeToDiseaseAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:VariantToDiseaseAssociation|biolink:CausalGeneToDiseaseAssociation|biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation]`: Category to get associations for
+* `-c, --category [biolink:PairwiseGeneToGeneInteraction|biolink:GeneToExpressionSiteAssociation|biolink:MacromolecularMachineToBiologicalProcessAssociation|biolink:GeneToPhenotypicFeatureAssociation|biolink:MacromolecularMachineToMolecularActivityAssociation|biolink:MacromolecularMachineToCellularComponentAssociation|biolink:Association|biolink:GeneToGeneHomologyAssociation|biolink:DiseaseToPhenotypicFeatureAssociation|biolink:GeneToPathwayAssociation|biolink:ChemicalToPathwayAssociation|biolink:CorrelatedGeneToDiseaseAssociation|biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation|biolink:CausalGeneToDiseaseAssociation]`: Category to get associations for
* `-s, --subject TEXT`: Subject ID to get associations for
-* `-p, --predicate [biolink:interacts_with|biolink:expressed_in|biolink:has_phenotype|biolink:is_sequence_variant_of|biolink:enables|biolink:actively_involved_in|biolink:orthologous_to|biolink:located_in|biolink:subclass_of|biolink:related_to|biolink:participates_in|biolink:acts_upstream_of_or_within|biolink:active_in|biolink:part_of|biolink:model_of|biolink:causes|biolink:acts_upstream_of|biolink:has_mode_of_inheritance|biolink:contributes_to|biolink:gene_associated_with_condition|biolink:treats_or_applied_or_studied_to_treat|biolink:colocalizes_with|biolink:acts_upstream_of_positive_effect|biolink:acts_upstream_of_or_within_positive_effect|biolink:acts_upstream_of_negative_effect|biolink:acts_upstream_of_or_within_negative_effect]`: Predicate ID to get associations for
+* `-p, --predicate [biolink:interacts_with|biolink:expressed_in|biolink:has_phenotype|biolink:enables|biolink:actively_involved_in|biolink:orthologous_to|biolink:located_in|biolink:subclass_of|biolink:participates_in|biolink:acts_upstream_of_or_within|biolink:related_to|biolink:active_in|biolink:part_of|biolink:acts_upstream_of|biolink:has_mode_of_inheritance|biolink:gene_associated_with_condition|biolink:contributes_to|biolink:causes|biolink:colocalizes_with|biolink:acts_upstream_of_or_within_positive_effect|biolink:acts_upstream_of_positive_effect|biolink:acts_upstream_of_or_within_negative_effect|biolink:acts_upstream_of_negative_effect]`: Predicate ID to get associations for
* `-o, --object TEXT`: Object ID to get associations for
* `-e, --entity TEXT`: Entity (subject or object) ID to get associations for
* `-d, --direct`: Whether to exclude associations with subject/object as ancestors
* `-C, --compact`: Whether to return a compact representation of the associations
-* `-l, --limit INTEGER`: The number of results to return [default: 20]
-* `--offset INTEGER`: The offset of the first result to be retrieved [default: 0]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-l, --limit INTEGER`: The number of associations to return [default: 20]
+* `--offset INTEGER`: The offset of the first association to be retrieved [default: 0]
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-o, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
### `monarch sql entity`
Retrieve an entity by ID
+Args:
+ id (str): The identifier of the entity to be retrieved
+ update (bool): = Whether to re-download the Monarch KG. Default False
+ fmt (str): The format of the output (json, yaml, tsv, table). Default JSON
+ output (str): The path to the output file. Default stdout
+
**Usage**:
```console
-$ monarch sql entity [OPTIONS] ENTITY_ID
+$ monarch sql entity [OPTIONS] [ID]
```
**Arguments**:
-* `ENTITY_ID`: The identifier of the entity to be retrieved [required]
+* `[ID]`: The identifier of the entity to be retrieved
**Options**:
-* `-e, --extra`: Include extra fields in the output (association_counts and node_hierarchy) [required]
-* `-u, --update`: Whether to re-download the Monarch KG [required]
-* `-f, --format [json|yaml|tsv|table]`: The format of the output (json, yaml, tsv, table) [default: json]
-* `-O, --output TEXT`: Path to file to write command output (stdout if not specified)
+* `-e, --extra`: Include extra fields in the output (association_counts and node_hierarchy)
+* `-u, --update`: Whether to re-download the Monarch KG
+* `-f, --format TEXT`: The format of the output (json, yaml, tsv, table) [default: json]
+* `-o, --output TEXT`: The path to the output file
* `--help`: Show this message and exit.
## `monarch test`
diff --git a/docs/release-process.md b/docs/release-process.md
deleted file mode 100644
index c7236db9d..000000000
--- a/docs/release-process.md
+++ /dev/null
@@ -1,191 +0,0 @@
-# Monarch Release Process
-
-## Overview
-
-This document describes the steps required to create a new Monarch release.
-
-These releases consist primarily of the following components:
-
-- Monarch Mapping files via [Monarch Mapping Commons](https://github.com/monarch-initiative/monarch-mapping-commons)
-- Knowledge Graph via [Monarch Ingest](https://github.com/monarch-initiative/monarch-ingest)
-- Data library and API via [Monarch-Py](https://github.com/monarch-initiative/monarch-app/backend)
-- Monarch website via [Monarch-App](https://github.com/monarch-initiative/monarch-app/frontend)
-
-
-## Monarch Mapping Commons
-
-[Monarch Mapping Commons](https://github.com/monarch-initiative/monarch-mapping-commons) is a repository that contains code used to generate the mapping files used in the creation of the Monarch knowledge graph.
-The nodes and edges in the knowledge graph come from a variety of sources, and have varying IDs and prefixes.
-The mapping files are used to map these IDs to IDs in Monarch's preferred namespaces.
-
-These mapping files are generated via a Jenkins job on a weekly basis, and are stored in the [Monarch Data Bucket](https://data.monarchinitiative.org/mappings/index.html).
-
-## Monarch Ingest (Knowledge Graph)
-
-Monarch's knowledge graph is built using the Monarch Ingest pipeline.
-The pipeline is run on a Jenkins server, and the resulting knowledge graph is uploaded to both Monarch's data bucket on Google Cloud, as well as the KG-Hub AWS S3 bucket.
-
-Changes to the Monarch Ingest pipeline are made in the [Monarch Ingest](https://github.com/monarch-initiative/monarch-ingest) repository.
-
-After the knowledge graph has been built, the [QC Dashboard](https://github.com/monarch-initiative/monarch-qc) is used to verify the difference between the new build of the knowledge graph and the previous build.
-
-Once the knowledge graph has been verified, additional steps are required to make the new knowledge graph available to the dev, beta, and production versions of the Monarch website.
-
-### Deploying the Knowledge Graph
-
-#### Deploying to dev
-
-While the Github Actions workflow for Monarch App will automatically update and deploy API & UI code to the dev environment, the knowledge graph must be manually deployed to the dev environment.
-
-Preparing the environment for deployment:
-
-* Make sure dependancies from monarch-stack-v3/README.md are installed
-* Ensure secrets are installed in $home/.secrets
-
-To deploy the knowledge graph to the dev environment, follow these steps:
-
-* Checkout (or update) [Monarch Stack V3](https://github.com/monarch-initiative/monarch-stack-v3)
-* Source the dev environment: `cd deployment && source site-envs/monarch-dev.env`
-* Run the provision script to update the dev environment: `./provision.sh`
-* After running the provision script to update the dev environment, a manual restart of the Solr container is necessary:
-
-```
-gcloud compute ssh --zone us-central1-a monarch-v3-${TF_VAR_env}-manager -- sudo docker service update --force monarch-v3_solr
-```
-
-From this point forward, code updates on the dev environment will be automatically deployed and additional work will happen to finish the work planned for the milestone. Ideally changes to the graph will happen early in the release cycle.
-
-#### Deploying to beta
-
-Once work on the milestone is complete, we need to tag the release in GitHub then we can deploy to the beta environment.
-
-To tag the release, go to the [Monarch App](https://github.com/monarch-initiative/monarch-app) and click on releases. Create a new release with the new version number and click generate release notes. Make any changes to the release notes that are necessary (generally none) and click publish release.
-
-You may want to set an environment variable for the release version to make it easier to copy and paste the version number in the following steps (update for your current version):
-
-```
-RELEASE="2024-02-13"
-```
-
-First, copy the KG release from monarch-kg-dev to monarch-kg:
-```
-gsutil cp -r gs://data-public-monarchinitiative/monarch-kg-dev/${RELEASE} gs://data-public-monarchinitiative/monarch-kg/${RELEASE}
-```
-Then, we need to copy in the archive:
-```
-gsutil cp -r gs://monarch-archive/monarch-kg-dev/${RELEASE} gs://monarch-archive/monarch-kg/${RELEASE}
-```
-
-Within monarch-stack-v3, copy the latest release env file to a new env, for example: `cp site-envs/monarch-2023-10-11.env site-envs/monarch-${RELEASE}.env`
-The date for the environment file name should match the KG release version, rather than today's date.
-Edit the top two lines in new env to match the latest KG & API versions:
-
-```
-export MONARCH_KG_VERSION="2023-11-16"
-export MONARCH_API_VERSION="0.18.1"
-```
-
-Then source the new environment and run provision.sh to create the new VM stack, paying attention to the terrform output to make sure that it's creating VMs with a version name you expect:
-
-```
-source site-envs/monarch-2023-11-16.env
-./provision.sh
-```
-
-Output for the provision script should look something like this:
-
-```
-...
-Changes to Outputs:
- + api_image_tag = "1.0.0"
- + env = "2024-02-13"
- + full_prefix = "monarch-v3-2024-02-13-"
- + neo4j_archive_url = "https://data.monarchinitiative.org/monarch-kg-dev/latest/monarch-kg.neo4j.dump"
- + phenio_archive_url = "https://data.monarchinitiative.org/monarch-kg/2024-02-13/phenio.db.gz"
- + project = "monarch-initiative"
- + semsimian_image_tag = "latest"
- + solr_archive_url = "https://data.monarchinitiative.org/monarch-kg/2024-02-13/solr.tar.gz"
- + sqlite_archive_url = "https://data.monarchinitiative.org/monarch-kg/2024-02-13/monarch-kg.db.gz"
- + stack = "monarch-v3"
- + ui_image_tag = "latest"
- + vm_svc_acct_email = "terraform@monarch-initiative.iam.gserviceaccount.com"
-
-Do you want to perform these actions?
- Terraform will perform the actions described above.
- Only 'yes' will be accepted to approve.
-```
-
-At the end of the run you should see a message like this:
-
-```
-PLAY RECAP ***************************************************************************************************
-monarch-v3-2024-02-13-api : ok=11 changed=3 unreachable=0 failed=0 skipped=2 rescued=0 ignored=0
-monarch-v3-2024-02-13-manager : ok=12 changed=3 unreachable=0 failed=0 skipped=2 rescued=0 ignored=0
-monarch-v3-2024-02-13-neo4j : ok=11 changed=3 unreachable=0 failed=0 skipped=2 rescued=0 ignored=0
-monarch-v3-2024-02-13-solr : ok=11 changed=3 unreachable=0 failed=0 skipped=2 rescued=0 ignored=0
-```
-
-#### Connecting beta to the load balancer
-
-Once this completes, open the [GCP load balancer configuration](https://console.cloud.google.com/net-services/loadbalancing/details/http/monarch-balancer?project=monarch-initiative).
-
-1. Click on the **edit** link at the top of the page.
-2. Click on **Backend Configuration**
-3. Open the **Backend services & backend buckets** pull down on the right side and check `monarch-v3-{release}-api-backend` & `monarch-v3-{release}-nginx-backend`, leave the other boxes checked, and click ok.
-4. Open the `Host and path rules` section to point `beta.monarchinitiative.org` to the `nginx` backend, `api-beta.monarchinitiative.org` to the `api` backend, and `neo4j-beta.monarchinitiative.org` to the `neo4j` backend.
-5. Then for each of these endpoints add `/*` to the path matcher, and click update.
-
-If you get a pop-up window error, you may have forgotten to delete one of the old routes when pointing to the new backend. You will need to redo the configuration if this happens.
-
-The load balancer will automatically restart with the new configuration. Then we'll need to confirm that the site is up and running.
-
-Get yourself a cup of hot chocolate / ice cold lemonade (season dependent) and settle in to go through the issues in the milestone. Make sure that each issue appears to actually be fixed, and close them with a note that they're confirmed to be working on beta.monarchinitiative.org. (with some additional explanation for externally submitted issues about when the change is expected to be visible on the production site)
-
-
-#### Deploying to production
-
-Edit the load balancer
-1. Remove the nginx and api backends from the last release
-2. Point `api-beta.monarchinitiative.org`, `api-v3.monarchinitiative.org`, and `api-next.monarchinitiative.org` to `monarch-v3-{release}-api-backend`
-3. Point `next.monarchinitiative.org` and `monarchinitiative.org` to `monarch-v3-{release}-nginx-backend`
-4. At the top of the host and path rules seciton, change the default backend ("Backend 1") to point to `monarch-v3-{release}-nginx-backend` as well
-
-Then turn off the former production VMs (but keep them around for disaster recovery) by going to the GCP console VM listings and just clicking stop on each VM.
-
-Source the former former env in v3 stack to delete it (say yes to deleting, and no to creating in the terraform dialogs)
-```
-source site-envs/monarch-2023-10-17.env
-./provision.sh -d
-```
-
-#### Troubleshooting
-
-Here are some known issues that we have seen before:
-
-In `./provision.sh` you may see an error like this:
-
-```
-fatal: [monarch-v3-2024-02-13-api]: UNREACHABLE! => changed=false
- msg: |-
- Data could not be sent to remote host "monarch-v3-2024-02-13-api". Make sure this host can be reached over ssh: Pseudo-terminal will not be allocated because stdin is not a terminal.
- sa_116692422516913491665@34.42.108.156: Permission denied (publickey).
-
- Recommendation: To check for possible causes of SSH connectivity issues and get
- recommendations, rerun the ssh command with the --troubleshoot option.
-
- gcloud compute ssh monarch-v3-2024-02-13-api --project=monarch-initiative --zone=us-central1-a --troubleshoot
-
- Or, to investigate an IAP tunneling issue:
-
- gcloud compute ssh monarch-v3-2024-02-13-api --project=monarch-initiative --zone=us-central1-a --troubleshoot --tunnel-through-iap
-
- ERROR: (gcloud.compute.ssh) [/usr/bin/ssh] exited with return code [255].
- unreachable: true
-```
-
-If so you may want to run the stated command (update to your version):
-
-```commandline
-gcloud compute ssh monarch-v3-2024-02-13-api --project=monarch-initiative --zone=us-central1-a --troubleshoot
-```
-
diff --git a/frontend/fixtures/association-counts.json b/frontend/fixtures/association-counts.json
index c89f298ca..4afc85909 100644
--- a/frontend/fixtures/association-counts.json
+++ b/frontend/fixtures/association-counts.json
@@ -2,17 +2,17 @@
"items": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4115,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation"
},
{
"label": "Causal Gene",
- "count": 125,
+ "count": 126,
"category": "biolink:CausalGeneToDiseaseAssociation"
},
{
"label": "Correlated Gene",
- "count": 150,
+ "count": 151,
"category": "biolink:CorrelatedGeneToDiseaseAssociation"
},
{
@@ -22,7 +22,7 @@
},
{
"label": "Disease Model",
- "count": 238,
+ "count": 237,
"category": "biolink:GenotypeToDiseaseAssociation"
}
]
diff --git a/frontend/fixtures/association-table.json b/frontend/fixtures/association-table.json
index 82db736ac..ba0714b2e 100644
--- a/frontend/fixtures/association-table.json
+++ b/frontend/fixtures/association-table.json
@@ -1,7 +1,7 @@
{
"limit": 5,
"offset": 0,
- "total": 4082,
+ "total": 4115,
"items": [
{
"id": "uuid:c0785538-8b41-11ef-b621-6045bdbae67e",
@@ -11,57 +11,57 @@
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
"BFO:0000001",
- "MONDO:0100546",
"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001"
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder"
],
"subject_taxon": null,
"subject_taxon_label": null,
@@ -71,349 +71,325 @@
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0076740",
- "UPHENO:0003415",
- "UPHENO:0086633",
- "HP:0002813",
- "UPHENO:0002945",
- "UPHENO:0002782",
- "UPHENO:0001003",
+ "UPHENO:0003015",
+ "UPHENO:0076723",
+ "UPHENO:0002905",
+ "HP:0034430",
+ "HP:0000924",
+ "UPHENO:0076727",
+ "UPHENO:0002976",
+ "UBERON:0002102",
+ "UBERON:0002389",
+ "UBERON:0001460",
+ "UBERON:0010740",
+ "UBERON:0002513",
+ "UBERON:0002529",
+ "UBERON:0003657",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "UBERON:0034925",
+ "UBERON:0011216",
+ "UBERON:0034921",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UPHENO:0002530",
+ "UPHENO:0081440",
"UPHENO:0086635",
- "UPHENO:0002267",
- "UPHENO:0002926",
- "UPHENO:0086700",
- "UPHENO:0079876",
- "HP:0011843",
- "UBERON:0004120",
+ "UBERON:0004708",
+ "UBERON:0000475",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UBERON:0010363",
+ "UBERON:0011249",
+ "UBERON:0010538",
+ "UBERON:0010712",
+ "UBERON:0002091",
+ "UPHENO:0002861",
+ "HP:0001382",
+ "HP:0000118",
+ "UPHENO:0077419",
+ "UPHENO:0002643",
+ "BFO:0000002",
+ "UBERON:0000061",
"UBERON:0010708",
"UBERON:0005881",
- "UBERON:0002102",
"UBERON:0002470",
"UBERON:0008785",
"UBERON:0012139",
"UBERON:0003839",
- "UPHENO:0003066",
- "UPHENO:0077419",
- "UPHENO:0002643",
- "UPHENO:0005092",
- "UPHENO:0002554",
- "UBERON:0010758",
- "UBERON:0004765",
- "HP:0000001",
- "UPHENO:0003015",
- "UPHENO:0076723",
- "UPHENO:0002905",
- "HP:0034430",
- "HP:0000924",
- "UPHENO:0002816",
- "UPHENO:0004476",
+ "UPHENO:0002526",
+ "UPHENO:0076703",
+ "HP:0001167",
+ "UPHENO:0002708",
+ "UPHENO:0002945",
+ "UPHENO:0002782",
"UPHENO:0002536",
- "UPHENO:0076692",
- "UPHENO:0084761",
+ "UPHENO:0076943",
"HP:0430046",
"UPHENO:0002600",
- "BFO:0000002",
- "UBERON:0002204",
+ "UPHENO:0005092",
+ "UPHENO:0002554",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UBERON:0000467",
"UBERON:0011582",
"UBERON:0015061",
"UBERON:0004375",
- "UBERON:0002544",
- "UBERON:0004708",
- "UBERON:5002389",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "HP:0006094",
- "UPHENO:0002650",
- "UPHENO:0003799",
+ "UPHENO:0003095",
+ "UPHENO:0002964",
+ "UPHENO:0002632",
"UBERON:0005451",
"UBERON:0012140",
"UBERON:0012354",
"UBERON:0002398",
- "HP:0011729",
- "BFO:0000002",
- "UPHENO:0002870",
- "UPHENO:0002896",
- "UPHENO:0002648",
- "UBERON:0001062",
- "UBERON:0000061",
- "UBERON:0004905",
- "UBERON:0004381",
- "UBERON:0002428",
- "UPHENO:0002526",
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+ "UPHENO:0002963",
+ "UPHENO:0003066",
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"UPHENO:0087006",
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+ "UPHENO:0002983",
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+ "UPHENO:0002896",
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+ "HP:0040068",
"UBERON:0015212",
- "UBERON:0012141",
+ "UBERON:0002204",
+ "UBERON:0002544",
+ "UBERON:5002389",
+ "UBERON:0006058",
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"UPHENO:0077421",
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"UPHENO:0084763",
- "BFO:0000020",
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- "HP:0006256",
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- "UBERON:0010707",
- "UBERON:0010912"
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+ "RO:0002577"
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- "phenotype",
- "phenotypic effect",
- "Finger joint hypermobility",
- "musculature phenotype",
- "manual digit phenotype",
- "Abnormality of limbs",
- "material entity",
+ "forelimb morphology phenotype",
+ "increased skeletal joint mobility",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus phenotype",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormal appendicular skeleton morphology",
"multicellular anatomical structure",
"anatomical system",
- "subdivision of organism along appendicular axis",
- "skeletal element",
- "pectoral appendage",
+ "paired limb/fin skeleton",
+ "limb endochondral element",
+ "bone of free limb or fin",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "entity",
+ "lateral structure",
+ "forelimb",
+ "manual digit",
+ "arm",
"bone of appendage girdle complex",
"endochondral bone",
- "arm",
"limb segment",
"limb joint",
- "Abnormality of the upper limb",
- "pectoral appendage phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "arm phenotype",
+ "limb phenotype",
+ "skeletal joint mobility phenotype",
+ "paired limb/fin",
+ "organ system subdivision",
+ "multi organ part structure",
+ "skeletal joint",
+ "articulation phenotype",
+ "manus morphology phenotype",
+ "digit phenotype",
+ "Abnormal joint physiology",
+ "Abnormality of the skeletal system",
+ "increased anatomical entity mobility",
+ "multi organ part structure phenotype",
"paired limb/fin segment phenotype",
- "material anatomical entity",
- "multicellular organism",
- "forelimb",
- "autopod region",
- "upper limb segment",
- "segment of autopod",
- "forelimb joint",
- "endochondral bone phenotype",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "manual digit morphology in the manus phenotype",
- "Small joint hypermobilty",
- "limb endochondral element phenotype",
+ "entity",
"anatomical collection",
+ "skeleton of limb",
+ "limb bone",
+ "skeletal system",
"segment of manus",
"digitopodium region",
"acropodium region",
"manus",
- "Abnormal hand morphology",
- "continuant",
+ "manual digitopodium region",
+ "specifically dependent continuant",
"multicellular organism morphology phenotype",
"Abnormality of the musculoskeletal system",
- "entity",
- "lateral structure",
- "articulation",
- "skeleton of limb",
- "limb bone",
- "skeletal system morphology phenotype",
- "Abnormal finger morphology",
- "appendage phenotype",
+ "organ system subdivision phenotype",
+ "Abnormality of the hand",
+ "Abnormal skeletal morphology",
+ "Finger joint hypermobility",
+ "anatomical entity",
+ "mesoderm-derived structure",
+ "skeleton",
+ "articular system",
+ "limb",
+ "pectoral appendage",
+ "autopod region",
+ "upper limb segment",
+ "segment of autopod",
+ "forelimb joint",
+ "Abnormality of joint mobility",
+ "Abnormality of the upper limb",
"taxon specific phenotype",
+ "Abnormal digit morphology",
+ "upper limb segment phenotype",
"digit morphology phenotype",
"anatomical entity morphology in the pectoral complex phenotype",
"Abnormal musculoskeletal physiology",
- "pectoral complex",
- "autopodial extension",
+ "anatomical structure",
+ "subdivision of organism along appendicular axis",
+ "skeletal element",
+ "limb segment phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "skeletal joint phenotype",
+ "autopodial extension phenotype",
+ "anatomical entity morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "organism subdivision",
+ "organ",
+ "multicellular organism",
+ "digit",
+ "manual digit plus metapodial segment",
"multi-limb segment region",
"bone element",
- "endochondral element",
- "paired limb/fin segment",
- "subdivision of organism along appendicular axis phenotype",
- "autopod region morphology phenotype",
- "Abnormality of the hand",
- "Abnormal skeletal morphology",
- "paired limb/fin phenotype",
- "autopod region phenotype",
- "anatomical entity phenotype",
- "Abnormal digit morphology",
- "upper limb segment phenotype",
- "skeletal joint mobility phenotype",
+ "musculature phenotype",
+ "manual digit phenotype",
"anatomical structure phenotype",
- "subdivision of skeleton",
- "appendicular skeleton morphology phenotype",
- "manus phenotype",
- "skeletal system phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system physiology phenotype",
- "manual digit",
- "limb",
- "limb segment phenotype",
- "increased skeletal joint mobility",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "material anatomical entity",
+ "appendage phenotype",
+ "Joint hypermobility",
"endochondral element phenotype",
+ "multi-limb segment region phenotype",
"quality",
- "musculoskeletal system",
- "paired limb/fin skeleton",
- "limb endochondral element",
- "bone of free limb or fin",
- "anatomical entity physiology phenotype",
- "anatomical system physiology phenotype",
- "limb morphology phenotype",
+ "Abnormality of limb bone",
+ "pectoral complex",
+ "autopodial extension",
+ "Phenotypic abnormality",
+ "limb bone morphology phenotype",
+ "Small joint hypermobilty",
+ "limb endochondral element phenotype",
+ "musculoskeletal system phenotype",
+ "mesoderm-derived structure phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "protein-containing material entity",
+ "system",
+ "endochondral element",
+ "appendicular skeletal system",
+ "paired limb/fin segment",
+ "limb skeleton subdivision",
+ "appendicular skeleton",
+ "All",
+ "continuant",
+ "Abnormality of hand joint mobility",
"material anatomical entity physiology phenotype",
"organism subdivision phenotype",
- "independent continuant",
+ "Abnormality of limbs",
+ "material entity",
+ "musculoskeletal system",
"anterior region of body",
"appendage",
"digit plus metapodial segment",
- "Abnormal limb bone morphology",
- "skeletal joint phenotype",
- "increased anatomical entity mobility",
- "multi organ part structure phenotype",
- "multi-limb segment region phenotype",
- "limb bone morphology phenotype",
- "organ system subdivision phenotype",
- "entity",
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- "bone of appendage girdle complex phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "anatomical entity",
- "appendage girdle complex",
- "organ phenotype",
- "forelimb phenotype",
- "forelimb morphology phenotype",
- "appendicular skeleton phenotype",
- "limb skeleton subdivision phenotype",
- "bone of free limb or fin phenotype",
- "articular system",
- "skeleton",
+ "phenotype",
+ "Abnormal hand morphology",
+ "autopod region morphology phenotype",
+ "bone element phenotype",
+ "limb bone phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
"subdivision of skeletal system",
"musculature of body",
"musculature",
- "skeletal system",
- "subdivision of skeletal system phenotype",
+ "subdivision of skeleton",
+ "articulation",
+ "appendicular skeleton morphology phenotype",
+ "bone of appendage girdle complex phenotype",
+ "skeletal element phenotype",
+ "endochondral bone phenotype",
+ "skeletal system phenotype",
+ "bone of free limb or fin phenotype",
+ "musculoskeletal system physiology phenotype",
+ "limb morphology phenotype",
+ "organ phenotype",
+ "skeletal system morphology phenotype",
+ "Abnormal finger morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity phenotype",
"anatomical entity mobility phenotype",
- "anatomical entity morphology in the manus phenotype",
- "musculoskeletal system phenotype",
- "mesoderm-derived structure phenotype",
- "mesoderm-derived structure",
- "Abnormality of joint mobility",
- "lateral structure phenotype",
- "Phenotypic abnormality",
- "subdivision of skeleton phenotype",
- "anatomical collection phenotype",
- "Abnormality of limb bone",
- "anatomical structure physiology phenotype",
- "arm phenotype",
- "limb phenotype",
- "system"
+ "continuant",
+ "appendage girdle complex"
],
"object_taxon": null,
"object_taxon_label": null,
@@ -481,32 +457,40 @@
"qualifiers_label": null,
"qualifiers_namespace": null,
"qualifiers_category": null,
+ "qualifiers_closure": null,
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"qualifier": null,
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+ "qualifier_closure": null,
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+ "onset_qualifier_closure": null,
+ "onset_qualifier_closure_label": null,
"sex_qualifier_label": null,
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"sex_qualifier_category": null,
+ "sex_qualifier_closure": null,
+ "sex_qualifier_closure_label": null,
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
+ "stage_qualifier_closure": null,
+ "stage_qualifier_closure_label": null,
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- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
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- "species_context_qualifier_category": null,
"direction": "outgoing"
},
{
@@ -517,171 +501,165 @@
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "BFO:0000020",
+ "MONDO:0019056",
"MONDO:0005336",
+ "MONDO:0002320",
"MONDO:0000355",
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"OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
+ "MONDO:0020120",
+ "MONDO:0003847",
"BFO:0000002",
+ "MONDO:0100546",
+ "MONDO:0958235",
+ "MONDO:0019952",
+ "BFO:0000017",
+ "BFO:0000016",
"MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
+ "MONDO:0700096",
"MONDO:0000001"
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
"nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "specifically dependent continuant",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "congenital myopathy",
+ "realizable entity",
"disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "Ullrich congenital muscular dystrophy",
+ "entity",
+ "continuant",
"human disease",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "Ullrich congenital muscular dystrophy 1B",
+ "congenital nervous system disorder"
],
"subject_taxon": null,
"subject_taxon_label": null,
- "predicate": "biolink:has_phenotype",
- "object": "HP:0001252",
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- "object_namespace": "HP",
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- "UBERON:0001630",
- "UBERON:0010000",
- "BFO:0000002",
- "UPHENO:0003022",
- "HP:0001252",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001252",
+ "original_object": null,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
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"UBERON:0001062",
+ "HP:0033127",
+ "BFO:0000001",
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- "UPHENO:0002525",
"UBERON:0000468",
"UBERON:0011216",
- "UPHENO:0002568",
- "BFO:0000001",
+ "HP:0001252",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "HP:0000118",
"UPHENO:0082555",
- "UPHENO:0001003",
+ "UPHENO:0002526",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
"BFO:0000001",
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"BFO:0000020",
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- "UPHENO:0002949",
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- "UPHENO:0002320",
+ "UPHENO:0003047",
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- "UPHENO:0001002",
- "HP:0003011",
- "PATO:0000001",
- "UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530"
+ "UPHENO:0002267",
+ "UPHENO:0082875"
],
"object_label": "Hypotonia",
"object_closure_label": [
- "All",
- "muscle organ phenotype",
+ "Abnormal muscle tone",
+ "organ physiology phenotype",
+ "entity",
+ "anatomical system",
+ "muscle organ",
"Hypotonia",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "phenotype",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
+ "material anatomical entity phenotype",
+ "anatomical entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
"multicellular organism",
"organ system subdivision",
- "musculature phenotype",
- "material entity",
- "anatomical system",
- "decreased anatomical entity tone",
- "taxon specific phenotype",
- "material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
- "continuant",
+ "anatomical structure",
"Abnormality of the musculoskeletal system",
- "entity",
- "specifically dependent continuant",
- "muscle structure physiology phenotype",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
"decreased muscle organ tone",
"multicellular anatomical structure physiology phenotype",
- "anatomical entity phenotype",
+ "muscle structure",
+ "anatomical entity physiology phenotype",
+ "organ",
+ "phenotype",
+ "musculature phenotype",
"anatomical structure phenotype",
"material anatomical entity",
"quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "taxon specific phenotype",
+ "entity",
+ "continuant",
+ "All",
+ "continuant",
"material anatomical entity physiology phenotype",
+ "material entity",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
"independent continuant",
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- "Abnormality of the musculature",
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"musculature of body",
"musculature",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype"
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "anatomical entity phenotype"
],
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"object_taxon_label": null,
@@ -749,32 +727,40 @@
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- "entity",
- "congenital muscular dystrophy"
+ "Bethlem myopathy 1A",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "congenital nervous system disorder"
],
"subject_taxon": null,
"subject_taxon_label": null,
@@ -1393,111 +1369,105 @@
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0080555",
- "UPHENO:0001003",
- "UPHENO:0002267",
- "UBERON:0000467",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
"HP:0001324",
- "UPHENO:0002816",
- "UPHENO:0002536",
- "UBERON:0001630",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "UBERON:0001062",
+ "HP:0033127",
+ "UBERON:0011216",
"UPHENO:0001001",
- "UPHENO:0001002",
- "UBERON:0010000",
- "UPHENO:0003022",
+ "BFO:0000020",
+ "UPHENO:0002530",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0000118",
"UBERON:0000061",
- "HP:0003701",
- "UPHENO:0003432",
- "UPHENO:0002525",
- "UBERON:0011216",
+ "UPHENO:0002526",
+ "UPHENO:0080555",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
"UPHENO:0080556",
- "UPHENO:0002568",
- "BFO:0000001",
"BFO:0000001",
- "UBERON:0000468",
+ "UBERON:0010000",
"UPHENO:0003047",
- "BFO:0000004",
- "UPHENO:0002526",
+ "HP:0003701",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
"UPHENO:0002359",
- "UPHENO:0002949",
+ "UPHENO:0003022",
+ "UPHENO:0002568",
"BFO:0000002",
- "UPHENO:0002320",
+ "HP:0000001",
"BFO:0000002",
- "UPHENO:0002308",
+ "UPHENO:0002816",
"UPHENO:0002385",
"UBERON:0000465",
- "BFO:0000020",
+ "BFO:0000004",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
"UPHENO:0002386",
- "UPHENO:0002976",
- "UPHENO:0002963",
+ "PATO:0000001",
"UBERON:0000383",
"UBERON:0001015",
- "HP:0033127",
- "BFO:0000040",
- "UBERON:0001062",
- "UBERON:0000062",
- "HP:0003011",
- "PATO:0000001",
+ "UPHENO:0002267",
"UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530"
+ "UPHENO:0001003",
+ "BFO:0000001"
],
"object_label": "Proximal muscle weakness",
"object_closure_label": [
- "All",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "entity",
+ "material entity",
+ "anatomical entity",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "organ system subdivision",
"Muscle weakness",
- "muscle organ phenotype",
- "musculature of body phenotype",
+ "specifically dependent continuant",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "taxon specific phenotype",
"anatomical structure",
+ "anatomical entity physiology phenotype",
+ "quality",
"organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "organ system subdivision",
- "phenotype",
- "phenotypic effect",
+ "multicellular organism",
"musculature phenotype",
- "material entity",
- "anatomical entity",
+ "anatomical structure phenotype",
"material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "entity",
+ "continuant",
+ "All",
"continuant",
+ "material anatomical entity physiology phenotype",
+ "phenotype",
"muscle structure phenotype",
- "Abnormality of the musculoskeletal system",
- "entity",
- "organ phenotype",
- "muscle structure physiology phenotype",
- "taxon specific phenotype",
- "multicellular anatomical structure physiology phenotype",
"Proximal muscle weakness",
- "decreased anatomical entity strength",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
"independent continuant",
- "Abnormality of the musculature",
- "organ system subdivision phenotype",
- "entity",
- "multicellular anatomical structure",
- "muscle organ physiology phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "decreased muscle organ strength",
"musculature of body",
"musculature",
- "continuant",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "anatomical system",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype"
+ "decreased muscle organ strength",
+ "organ phenotype",
+ "anatomical entity phenotype"
],
"object_taxon": null,
"object_taxon_label": null,
@@ -1547,35 +1517,41 @@
"qualifiers_label": null,
"qualifiers_namespace": null,
"qualifiers_category": null,
+ "qualifiers_closure": null,
+ "qualifiers_closure_label": null,
"qualifier": null,
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
+ "qualifier_closure": null,
+ "qualifier_closure_label": null,
"frequency_qualifier_label": null,
"frequency_qualifier_namespace": null,
"frequency_qualifier_category": null,
+ "frequency_qualifier_closure": null,
+ "frequency_qualifier_closure_label": null,
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
+ "onset_qualifier_closure": null,
+ "onset_qualifier_closure_label": null,
"sex_qualifier_label": null,
"sex_qualifier_namespace": null,
"sex_qualifier_category": null,
+ "sex_qualifier_closure": null,
+ "sex_qualifier_closure_label": null,
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
+ "stage_qualifier_closure": null,
+ "stage_qualifier_closure_label": null,
"disease_context_qualifier": null,
"disease_context_qualifier_label": null,
"disease_context_qualifier_namespace": null,
"disease_context_qualifier_category": null,
"disease_context_qualifier_closure": null,
"disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null,
"direction": "outgoing"
}
- ],
- "facet_fields": [],
- "facet_queries": []
+ ]
}
diff --git a/frontend/fixtures/associations-compact.json b/frontend/fixtures/associations-compact.json
index 192a28d25..0ac9b7f0c 100644
--- a/frontend/fixtures/associations-compact.json
+++ b/frontend/fixtures/associations-compact.json
@@ -1,189 +1,187 @@
{
"limit": 20,
"offset": 0,
- "total": 5079,
+ "total": 5116,
"items": [
{
- "category": "biolink:Association",
- "subject": "MONDO:0100531",
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0700069",
- "object_label": "myopathy caused by variation in POMGNT2",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0800209",
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0007614",
- "object_label": "congenital fibrosis of extraocular muscles",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0800318",
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0957270",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958077",
- "subject_label": "collagen 6-related congenital muscular dystrophy",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958176",
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- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "object_label": "oculopharyngeal muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958195",
- "subject_label": "oculopharyngeal muscular dystrophy 2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "object_label": "oculopharyngeal muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958233",
- "subject_label": "Bethlem myopathy 1B",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
- "object_label": "Bethlem myopathy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958234",
- "subject_label": "Bethlem myopathy 1C",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
- "object_label": "Bethlem myopathy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958235",
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
- "object_label": "Ullrich congenital muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958236",
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
- "object_label": "Ullrich congenital muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0958353",
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0958077",
- "object_label": "collagen 6-related congenital muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:0971171",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:Association",
- "subject": "MONDO:1040033",
- "subject_label": "congenital muscular dystrophy without intellectual disability",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:3817493",
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5529018",
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "object_label": "Duchenne muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:6438177",
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "object_label": "Duchenne muscular dystrophy",
- "negated": null
- },
- {
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5524138",
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "negated": null
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0000762",
+ "object_label": "Decreased nerve conduction velocity",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001265",
+ "object_label": "Hyporeflexia",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001609",
+ "object_label": "Hoarse voice",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003198",
+ "object_label": "Myopathy",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003458",
+ "object_label": "EMG: myopathic abnormalities",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003557",
+ "object_label": "Increased variability in muscle fiber diameter",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0008180",
+ "object_label": "Mildly elevated creatine kinase",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0008619",
+ "object_label": "Bilateral sensorineural hearing impairment",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0009063",
+ "object_label": "Progressive distal muscle weakness",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0009830",
+ "object_label": "Peripheral neuropathy",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0010219",
+ "object_label": "Structural foot deformity",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0012548",
+ "object_label": "Fatty replacement of skeletal muscle",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001284",
+ "object_label": "Areflexia",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001337",
+ "object_label": "Tremor",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003701",
+ "object_label": "Proximal muscle weakness",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001250",
+ "object_label": "Seizure",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001605",
+ "object_label": "Vocal cord paralysis",
+ "negated": true
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002015",
+ "object_label": "Dysphagia",
+ "negated": true
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001369",
+ "object_label": "Arthritis",
+ "negated": false
+ },
+ {
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007340",
+ "object_label": "Lower limb muscle weakness",
+ "negated": false
}
- ],
- "facet_fields": [],
- "facet_queries": []
+ ]
}
diff --git a/frontend/fixtures/associations.json b/frontend/fixtures/associations.json
index 183722d4c..3caa6d9b0 100644
--- a/frontend/fixtures/associations.json
+++ b/frontend/fixtures/associations.json
@@ -1,189 +1,251 @@
{
"limit": 20,
"offset": 0,
- "total": 5079,
+ "total": 5116,
"items": [
{
- "id": "urn:uuid:c3d2efc2-8a36-49a0-918a-e722adbe7cf4",
- "category": "biolink:Association",
- "subject": "MONDO:0100531",
- "original_subject": null,
+ "id": "uuid:c66e15a4-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
+ "MONDO:0005071",
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+ "MONDO:0100545",
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+ "MONDO:0003620",
"MONDO:0005336",
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"MONDO:0020120",
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- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
- "BFO:0000002",
- "MONDO:0005267",
+ "BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
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- "MONDO:0021106"
+ "MONDO:0002545"
],
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
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- "cardiomyopathy",
- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
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+ "disposition",
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- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "Emery-Dreifuss muscular dystrophy 1, X-linked",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "familial cardiomyopathy",
- "myopathy",
- "continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
- "cardiovascular disorder",
+ "continuant",
"human disease",
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+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "entity"
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy"
],
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"subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
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+ "predicate": "biolink:has_phenotype",
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- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
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- "disease",
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- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
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+ "Abnormality of the peripheral nervous system",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "entity",
+ "anatomical entity",
+ "nervous system process",
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- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
+ "nervous system physiology phenotype",
+ "organ system subdivision phenotype",
+ "phenotypic effect",
+ "multicellular anatomical structure physiology phenotype",
+ "nervous system phenotype",
+ "Abnormal nerve conduction velocity",
+ "taxon specific phenotype",
+ "peripheral nervous system physiology phenotype",
+ "system process",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotype",
"continuant",
- "familial dilated cardiomyopathy",
- "entity"
+ "Abnormal nervous system electrophysiology",
+ "anatomical structure phenotype",
+ "Decreased nerve conduction velocity",
+ "quality",
+ "Abnormality of peripheral nerve conduction",
+ "organ system subdivision physiology phenotype",
+ "Phenotypic abnormality",
+ "cellular process",
+ "multicellular organismal process",
+ "multicellular anatomical structure",
+ "anatomical entity phenotype",
+ "occurrent",
+ "continuant",
+ "material anatomical entity",
+ "All",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "biological_process",
+ "material entity",
+ "nervous system",
+ "Abnormal peripheral nervous system physiology",
+ "independent continuant",
+ "peripheral nervous system",
+ "cell communication",
+ "transmission of nerve impulse"
],
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- "primary_knowledge_source": "infores:mondo",
+ "primary_knowledge_source": "infores:orphanet",
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"infores:monarchinitiative",
- "infores:phenio"
+ "infores:hpo-annotations"
],
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+ "negated": false,
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- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": null,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [
+ {
+ "id": "ECO:0000304",
+ "url": "http://purl.obolibrary.org/obo/ECO_0000304"
+ }
+ ],
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"has_total": null,
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- "grouping_key": "MONDO:0100531||biolink:subclass_of|MONDO:0010680",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0000762",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype"
},
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+ "frequency_qualifier": "HP:0040282",
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@@ -191,184 +253,333 @@
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+ "qualifiers_closure": null,
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- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
+ "disease_context_qualifier_closure_label": null
},
{
- "id": "urn:uuid:405a1cb8-b345-4fc5-806c-86aab74869a3",
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "original_subject": null,
+ "id": "uuid:c66e15a5-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
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+ "MONDO:0000426",
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+ "MONDO:0700096",
+ "MONDO:0000001",
+ "MONDO:0002545"
],
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
"subject_closure_label": [
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- "myopathy caused by variation in POMGNT2",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
- "congenital disorder of glycosylation",
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+ "neurodegenerative disease",
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+ "myopathy",
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"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
- "muscular dystrophy",
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+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
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+ "muscular dystrophy",
+ "motor neuron disorder",
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+ "spinal muscular atrophy",
+ "specifically dependent continuant",
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+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy"
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy"
],
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"subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001265",
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- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
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- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
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- "MONDO:0700223",
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- "MONDO:0002081",
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+ "UPHENO:0001003",
+ "BFO:0000001",
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+ "object_label": "Hyporeflexia",
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- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "multicellular organismal movement phenotype",
+ "biological_process phenotype",
+ "anatomical system",
+ "anatomical system physiology phenotype",
+ "decreased qualitatively response to external stimulus",
+ "material anatomical entity phenotype",
"entity",
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- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "anatomical entity",
+ "musculoskeletal movement",
+ "behavior process",
+ "nervous system process",
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+ "Atypical behavior",
+ "anatomical structure physiology phenotype",
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+ "behavior phenotype",
+ "decreased response to external stimulus",
+ "decreased response to stimulus",
+ "process",
+ "anatomical structure",
+ "nervous system physiology phenotype",
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+ "musculoskeletal movement phenotype",
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+ "nervous system phenotype",
+ "taxon specific phenotype",
+ "decreased qualitatively reflex",
+ "system process",
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
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+ "reflex",
+ "multicellular organism",
+ "phenotype",
+ "decreased qualitatively response to stimulus",
+ "continuant",
+ "decreased reflex",
+ "response to external stimulus phenotype",
+ "Abnormality of mental function",
+ "nervous system process phenotype",
+ "anatomical structure phenotype",
+ "quality",
+ "voluntary movement behavior",
+ "body part movement",
+ "Abnormality of movement",
+ "Phenotypic abnormality",
+ "voluntary musculoskeletal movement phenotype",
+ "response to stimulus",
+ "multicellular organismal process",
+ "multicellular anatomical structure",
+ "involuntary movement behavior",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "occurrent",
+ "continuant",
+ "material anatomical entity",
+ "All",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "material entity",
+ "nervous system",
+ "Abnormal reflex",
+ "decreased biological_process",
+ "reflex phenotype",
+ "independent continuant",
+ "response to stimulus phenotype",
+ "biological_process rate phenotype",
+ "decreased qualitatively biological_process",
+ "Reduced tendon reflexes",
+ "system process phenotype",
+ "voluntary movement behavior phenotype",
+ "Hyporeflexia",
+ "anatomical entity phenotype",
+ "entity",
+ "response to external stimulus",
+ "multicellular organismal movement",
+ "behavior",
+ "voluntary musculoskeletal movement",
+ "kinesthetic behavior",
+ "neuromuscular process"
],
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"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
+ "primary_knowledge_source": "infores:orphanet",
"aggregator_knowledge_source": [
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- "infores:phenio"
+ "infores:hpo-annotations"
],
- "negated": null,
+ "negated": false,
"pathway": null,
- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": null,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [
+ {
+ "id": "ECO:0000304",
+ "url": "http://purl.obolibrary.org/obo/ECO_0000304"
+ }
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"has_total": null,
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- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001265",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype"
},
"publications": null,
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- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
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"sex_qualifier": null,
"stage_qualifier": null,
@@ -376,184 +587,229 @@
"qualifiers_label": null,
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- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
+ "anatomical system",
+ "Abnormality of the voice",
+ "anatomical entity",
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+ "Hoarse voice",
+ "anatomical structure",
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- "hereditary disease",
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- "glycoprotein metabolism disease"
+ "vocal organ phenotype",
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+ "anatomical structure phenotype",
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- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0700069",
- "provided_by": "phenio_edges",
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+ "provided_by": "hpoa_disease_to_phenotype_edges",
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+ "hereditary neuromuscular disease",
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- "fibrosis of extraocular muscles, congenital, 3b"
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
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+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "muscle structure",
+ "taxon specific phenotype",
+ "continuant",
+ "anatomical entity morphology phenotype",
+ "organ",
+ "musculature phenotype",
+ "material anatomical entity",
+ "quality",
+ "Phenotypic abnormality",
+ "Myopathy",
+ "multicellular anatomical structure",
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- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
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- "disease",
- "congenital fibrosis of extraocular muscles",
- "myopathy",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition"
+ "anatomical entity phenotype",
+ "entity",
+ "All",
+ "muscle organ morphology phenotype",
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+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "continuant"
],
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- "primary_knowledge_source": "infores:mondo",
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- "infores:phenio"
+ "infores:hpo-annotations"
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+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [
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- "grouping_key": "MONDO:0800209||biolink:subclass_of|MONDO:0007614",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003198",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_disease_to_phenotype",
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+ "frequency_qualifier": "HP:0040282",
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@@ -756,214 +1065,273 @@
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"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0957270||biolink:subclass_of|MONDO:0015152",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0003557",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype"
},
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+ "frequency_qualifier": "HP:0040282",
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@@ -1154,170 +1653,353 @@
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+ "qualifiers_closure": null,
+ "qualifiers_closure_label": null,
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+ "stage_qualifier_closure": null,
+ "stage_qualifier_closure_label": null,
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- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
+ "disease_context_qualifier_closure_label": null
},
{
- "id": "urn:uuid:02519cdf-3922-4d4f-a606-8951db2d0ba4",
- "category": "biolink:Association",
- "subject": "MONDO:0958077",
- "original_subject": null,
+ "id": "uuid:c66e15ab-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
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"subject_category": "biolink:Disease",
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- "BFO:0000016",
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- "MONDO:0958077",
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+ "MONDO:0700096",
+ "MONDO:0000001",
+ "MONDO:0002545"
],
- "subject_label": "collagen 6-related congenital muscular dystrophy",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
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- "skeletal muscle disorder",
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
+ "myopathy",
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"musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "myopathy",
- "continuant",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy"
],
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- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "predicate": "biolink:has_phenotype",
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- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
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- "object_label": "congenital muscular dystrophy",
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+ "homeostatic process phenotype",
+ "biological_process phenotype",
+ "anatomical system",
+ "hemolymphoid system",
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+ "haemolymphatic fluid",
+ "organic amino compound",
+ "carboxamide",
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- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
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+ "catalytic complex",
+ "polyatomic entity",
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+ "blood chemical entity level phenotype",
+ "anatomical structure phenotype",
+ "blood",
+ "multicellular organism",
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+ "organism substance",
"specifically dependent continuant",
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- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "role blood level phenotype",
+ "Abnormal circulating creatine kinase concentration",
+ "Elevated circulating creatine kinase concentration",
+ "organonitrogen compound",
+ "amide",
+ "heteroorganic entity",
+ "organooxygen compound",
+ "Abnormal circulating organic compound concentration",
+ "phenotypic effect",
+ "mesoderm-derived structure",
+ "bodily fluid",
+ "peptide",
+ "multicellular organism chemical entity level phenotype",
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+ "protein-containing complex",
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+ "Abnormal circulating nitrogen compound concentration",
+ "anatomical system phenotype",
+ "Mildly elevated creatine kinase",
+ "quality",
+ "protein polypeptide chain",
+ "creatine kinase complex",
+ "organic molecular entity",
+ "nitrogen molecular entity",
+ "oxygen molecular entity",
+ "organochalcogen compound",
+ "phenotype",
+ "blood organic molecular entity level phenotype",
+ "continuant",
+ "chemical entity level phenotype",
+ "homeostatic process",
+ "cellular_component",
+ "chemical entity",
+ "material anatomical entity",
+ "transferase complex, transferring phosphorus-containing groups",
+ "polypeptide",
+ "pnictogen molecular entity",
+ "carbon group molecular entity",
+ "chalcogen molecular entity",
+ "Phenotypic abnormality",
+ "mesoderm-derived structure phenotype",
+ "metabolic process",
+ "multicellular anatomical structure",
+ "blood organic amino compound level phenotype",
+ "occurrent",
+ "continuant",
+ "protein-containing material entity",
+ "All",
+ "Abnormal circulating enzyme concentration",
+ "Abnormal circulating protein concentration",
+ "Abnormal circulating organic amino compound concentration",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "independent continuant",
+ "blood oxygen molecular entity level phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "role bodily fluid level phenotype",
+ "blood nitrogen molecular entity level phenotype",
+ "Abnormal circulating metabolite concentration",
+ "anatomical entity phenotype",
+ "transferase complex",
+ "macromolecule",
+ "p-block molecular entity"
],
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"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
+ "primary_knowledge_source": "infores:orphanet",
"aggregator_knowledge_source": [
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- "infores:phenio"
+ "infores:hpo-annotations"
],
- "negated": null,
+ "negated": false,
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- "evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
- "has_evidence": null,
- "has_evidence_links": [],
+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [
+ {
+ "id": "ECO:0000304",
+ "url": "http://purl.obolibrary.org/obo/ECO_0000304"
+ }
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- "grouping_key": "MONDO:0958077||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0008180",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype"
},
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+ "frequency_qualifier": "HP:0040282",
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@@ -1325,186 +2007,409 @@
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- "species_context_qualifier_namespace": null,
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+ "disease_context_qualifier_closure_label": null
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{
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- "category": "biolink:Association",
- "subject": "MONDO:0958176",
- "original_subject": null,
+ "id": "uuid:c66e15ac-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
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- "object_label": "oculopharyngeal muscular dystrophy",
- "object_closure_label": [
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+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_closure_label": [
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+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
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+ "disposition",
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+ "neurodegenerative disease",
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+ "myopathy",
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- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
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+ "autosomal dominant distal myopathy",
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+ "realizable entity",
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- "oculopharyngeal muscular dystrophy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
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+ "anterior horn disorder",
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"human disease",
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+ "skeletal muscle disorder",
"hereditary disease",
- "eye adnexa disorder",
- "disposition",
- "entity"
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
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+ "distal hereditary motor neuropathy"
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+ "multicellular organismal process",
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+ "ectoderm-derived structure",
+ "multicellular anatomical structure",
+ "sensory perception of sound",
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+ "organism subdivision phenotype",
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+ "decreased biological_process",
+ "internal ear physiology phenotype",
+ "Abnormal ear morphology",
+ "ectoderm-derived structure physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "organism subdivision",
+ "biological_process rate phenotype",
+ "sensory perception of sound phenotype",
+ "decreased qualitatively biological_process",
+ "system process phenotype",
+ "organ phenotype",
+ "Abnormality of head or neck",
+ "decreased qualitatively multicellular organismal process",
+ "decreased nervous system process",
+ "entity",
+ "decreased sensory perception",
+ "sense organ physiology phenotype",
+ "continuant",
+ "sensory perception",
+ "ear"
],
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- "infores:phenio"
+ "infores:hpo-annotations"
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+ "evidence_count": 1,
+ "knowledge_level": "knowledge_assertion",
+ "agent_type": "manual_agent",
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [
+ {
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+ }
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- "grouping_key": "MONDO:0958176||biolink:subclass_of|MONDO:0008116",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0008619",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype"
},
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+ "frequency_qualifier": "HP:0040282",
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@@ -1512,186 +2417,269 @@
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{
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- "category": "biolink:Association",
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+ "id": "uuid:c66e15ad-8b41-11ef-b621-6045bdbae67e",
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],
- "subject_label": "oculopharyngeal muscular dystrophy 2",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
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+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
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- "hereditary skeletal muscle disorder",
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- "disorder of visual system",
+ "autosomal dominant distal myopathy",
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+ "realizable entity",
+ "distal myopathy",
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- "oculopharyngeal muscular dystrophy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
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+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
+ "specifically dependent continuant",
+ "continuant",
"human disease",
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
"hereditary disease",
- "oculopharyngeal muscular dystrophy 2",
- "eye adnexa disorder",
- "disposition"
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy"
],
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"subject_taxon_label": null,
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- "object": "MONDO:0008116",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0009063",
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- "MONDO:0005336",
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],
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- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "multicellular anatomical structure",
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+ "entity",
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+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "multicellular organism",
+ "organ system subdivision",
+ "Muscle weakness",
+ "entity",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormality of the musculature",
+ "Distal muscle weakness",
+ "multicellular anatomical structure physiology phenotype",
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+ "muscle structure",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "organ",
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+ "musculature phenotype",
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+ "material anatomical entity",
+ "quality",
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+ "Abnormal muscle physiology",
"specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
- "entity"
+ "anatomical entity phenotype",
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+ "material entity",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "multicellular anatomical structure phenotype",
+ "independent continuant",
+ "musculature of body",
+ "musculature",
+ "Progressive distal muscle weakness",
+ "decreased muscle organ strength",
+ "organ phenotype"
],
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- "infores:phenio"
+ "infores:hpo-annotations"
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- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0009063",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
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- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype"
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+ "frequency_qualifier": "HP:0040282",
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@@ -1699,182 +2687,261 @@
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+ "nervous system morphology phenotype",
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+ "infores:hpo-annotations"
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- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0009830",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
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@@ -1882,182 +2949,295 @@
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- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
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+ "posterior region of body",
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@@ -2244,178 +3493,309 @@
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+ "Abnormality of mental function",
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- "grouping_key": "MONDO:0958353||biolink:subclass_of|MONDO:0958077",
- "provided_by": "phenio_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0001337",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
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@@ -2598,182 +4123,267 @@
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"hereditary neurological disease",
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+ "autosomal genetic disease",
+ "realizable entity",
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+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
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+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
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+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
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- "congenital muscular dystrophy"
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+ "distal hereditary motor neuropathy"
],
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- "hereditary neurological disease",
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+ "material anatomical entity phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
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+ "Abnormal nervous system physiology",
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+ "anatomical structure",
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+ "anatomical system phenotype",
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+ "material anatomical entity",
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+ "multicellular anatomical structure",
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- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "anatomical entity phenotype",
+ "All",
+ "continuant",
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+ "material entity",
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+ "continuant"
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- "infores:phenio"
+ "infores:hpo-annotations"
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+ "has_evidence_links": [
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- "provided_by": "phenio_edges",
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+ "provided_by": "hpoa_disease_to_phenotype_edges",
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- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
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@@ -2952,124 +4629,333 @@
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- "object_namespace": "MONDO",
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+ "spinal cord disorder",
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+ "distal hereditary motor neuropathy"
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+ "Abnormal central motor function",
+ "Abnormal respiratory system physiology",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "Abnormality of the respiratory system",
+ "paralysis",
+ "multicellular anatomical structure",
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+ "Vocal cord paralysis",
+ "specifically dependent continuant",
+ "anatomical entity phenotype",
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+ "endoderm-derived structure physiology phenotype",
+ "Abnormality of the nervous system",
+ "larynx phenotype",
+ "material anatomical entity physiology phenotype",
+ "organ part",
+ "respiratory system",
+ "nervous system",
+ "lateral structure physiology phenotype",
+ "Abnormality of the upper respiratory tract",
+ "independent continuant",
+ "respiratory airway",
+ "subdivision of tube",
+ "respiratory system physiology phenotype",
+ "Paralysis",
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+ "subdivision of tube phenotype",
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+ "continuant",
+ "laryngeal vocal fold"
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@@ -3081,118 +4967,343 @@
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- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
- "subject_closure": null,
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "subject_closure_label": null,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "original_object": "DOID:11727",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
- "MONDO:0016106",
+ "id": "uuid:c66e15aa-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:DiseaseToPhenotypicFeatureAssociation",
+ "subject": "MONDO:0013711",
+ "original_subject": "Orphanet:397744",
+ "subject_namespace": "MONDO",
+ "subject_category": "biolink:Disease",
+ "subject_closure": [
+ "MONDO:0005071",
+ "MONDO:0020128",
+ "MONDO:0016108",
+ "MONDO:0100545",
+ "MONDO:0002081",
+ "MONDO:0019056",
+ "MONDO:0003620",
"MONDO:0005336",
- "BFO:0000002",
+ "MONDO:0002602",
+ "MONDO:0015362",
+ "MONDO:0005244",
+ "MONDO:0013711",
+ "MONDO:0018894",
+ "MONDO:0003182",
+ "MONDO:0001516",
+ "BFO:0000020",
+ "OGMS:0000031",
+ "MONDO:0024257",
+ "MONDO:0000429",
+ "MONDO:0024237",
"MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
+ "MONDO:0003847",
+ "BFO:0000002",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
"BFO:0000017",
"BFO:0000001",
"BFO:0000016",
"MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
+ "MONDO:0020127",
+ "MONDO:0003939",
+ "MONDO:0018949",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0000426",
+ "MONDO:0005559",
+ "MONDO:0700096",
+ "MONDO:0000001",
+ "MONDO:0002545"
],
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_closure_label": [
- "skeletal muscle disorder",
+ "subject_label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "subject_closure_label": [
+ "hereditary skeletal muscle disorder",
+ "central nervous system disorder",
+ "hereditary peripheral neuropathy",
"neuromuscular disease",
- "disease",
"muscle tissue disorder",
+ "disposition",
+ "autosomal dominant disease",
+ "neurodegenerative disease",
"nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
+ "myopathy",
+ "entity",
"hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
+ "autosomal dominant distal myopathy",
+ "autosomal genetic disease",
+ "realizable entity",
+ "distal myopathy",
"disease",
- "premature aging syndrome",
- "myopathy",
+ "hereditary neuromuscular disease",
+ "disease",
+ "hereditary motor neuron disease",
+ "peripheral nervous system disorder",
+ "muscular dystrophy",
+ "motor neuron disorder",
+ "anterior horn disorder",
+ "spinal muscular atrophy",
"specifically dependent continuant",
+ "continuant",
"human disease",
- "hereditary disease"
+ "inherited neurodegenerative disorder",
+ "skeletal muscle disorder",
+ "hereditary disease",
+ "spinal cord disorder",
+ "neuronopathy, distal hereditary motor, autosomal dominant",
+ "peripheral neuropathy",
+ "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",
+ "distal hereditary motor neuropathy"
+ ],
+ "subject_taxon": null,
+ "subject_taxon_label": null,
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007340",
+ "original_object": null,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "HP:0001324",
+ "HP:0003690",
+ "UPHENO:0002976",
+ "UBERON:0001062",
+ "UBERON:0004480",
+ "UPHENO:0080575",
+ "UPHENO:0081581",
+ "HP:0033127",
+ "BFO:0000001",
+ "UBERON:0011216",
+ "UPHENO:0002530",
+ "UBERON:0004708",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UBERON:0007271",
+ "UBERON:0014792",
+ "UPHENO:0002861",
+ "HP:0000118",
+ "UBERON:0000061",
+ "UBERON:0010709",
+ "UPHENO:0002526",
+ "UPHENO:0002945",
+ "UPHENO:0080555",
+ "UPHENO:0002536",
+ "HP:0011804",
+ "UBERON:0000467",
+ "UBERON:0001630",
+ "BFO:0000002",
+ "UPHENO:0080556",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "BFO:0000020",
+ "UBERON:0010890",
+ "UPHENO:0003047",
+ "HP:0003011",
+ "UPHENO:0002308",
+ "UPHENO:0002525",
+ "UBERON:0005090",
+ "UBERON:0018254",
+ "UBERON:0002101",
+ "UBERON:0000026",
+ "UPHENO:0002359",
+ "UPHENO:0003022",
+ "BFO:0000002",
+ "HP:0000001",
+ "UPHENO:0002816",
+ "UPHENO:0076692",
+ "UPHENO:0002385",
+ "UPHENO:0002830",
+ "UPHENO:0003045",
+ "UPHENO:0002897",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "BFO:0000004",
+ "UBERON:0010707",
+ "UBERON:0014892",
+ "UPHENO:0002320",
+ "UPHENO:0001002",
+ "UBERON:0015212",
+ "HP:0009127",
+ "UPHENO:0002386",
+ "UPHENO:0002568",
+ "UPHENO:0002647",
+ "HP:0011805",
+ "PATO:0000001",
+ "BFO:0000040",
+ "UBERON:0000475",
+ "UBERON:0000383",
+ "UBERON:0001015",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "HP:0040064",
+ "HP:0007340",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "PR:000050567",
+ "RO:0002577"
+ ],
+ "object_label": "Lower limb muscle weakness",
+ "object_closure_label": [
+ "Abnormality of the musculature of the limbs",
+ "paired limb/fin phenotype",
+ "decreased anatomical entity strength",
+ "organ physiology phenotype",
+ "entity",
+ "anatomical system",
+ "muscle organ",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "musculature of limb phenotype",
+ "anatomical entity",
+ "lateral structure",
+ "musculature of limb",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical structure physiology phenotype",
+ "limb phenotype",
+ "paired limb/fin",
+ "organ system subdivision",
+ "pelvic complex muscle",
+ "Muscle weakness",
+ "Limb muscle weakness",
+ "entity",
+ "skeletal muscle organ, vertebrate",
+ "decreased pelvic complex muscle strength",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure physiology phenotype",
+ "muscle structure",
+ "skeletal musculature",
+ "limb",
+ "appendage musculature phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "anatomical entity morphology phenotype",
+ "quality",
+ "Lower limb muscle weakness",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "continuant",
+ "musculature phenotype",
+ "anatomical structure phenotype",
+ "appendage phenotype",
+ "pelvic complex",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "taxon specific phenotype",
+ "continuant",
+ "material anatomical entity",
+ "protein-containing material entity",
+ "system",
+ "appendage musculature",
+ "musculature of pelvic complex",
+ "All",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "Abnormality of limbs",
+ "material entity",
+ "appendage",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "muscle organ phenotype",
+ "independent continuant",
+ "organism subdivision",
+ "musculature of body",
+ "musculature",
+ "decreased muscle organ strength",
+ "organ phenotype",
+ "anatomical entity phenotype",
+ "appendage girdle complex"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mgi",
+ "primary_knowledge_source": "infores:orphanet",
"aggregator_knowledge_source": [
"infores:monarchinitiative",
- "infores:agrkb"
+ "infores:hpo-annotations"
],
- "negated": null,
+ "negated": false,
"pathway": null,
- "evidence_count": 0,
+ "evidence_count": 1,
"knowledge_level": "knowledge_assertion",
"agent_type": "manual_agent",
- "has_evidence": null,
- "has_evidence_links": [],
+ "has_evidence": ["ECO:0000304"],
+ "has_evidence_links": [
+ {
+ "id": "ECO:0000304",
+ "url": "http://purl.obolibrary.org/obo/ECO_0000304"
+ }
+ ],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MGI:5524138||biolink:model_of|MONDO:0001347",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "MONDO:0013711|False|biolink:has_phenotype|HP:0007340",
+ "provided_by": "hpoa_disease_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease"
+ "id": "hpoa_disease_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -3456,34 +5919,40 @@
"qualifiers_label": null,
"qualifiers_namespace": null,
"qualifiers_category": null,
+ "qualifiers_closure": null,
+ "qualifiers_closure_label": null,
"qualifier": null,
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
+ "qualifier_closure": null,
+ "qualifier_closure_label": null,
"frequency_qualifier_label": null,
"frequency_qualifier_namespace": null,
"frequency_qualifier_category": null,
+ "frequency_qualifier_closure": null,
+ "frequency_qualifier_closure_label": null,
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
+ "onset_qualifier_closure": null,
+ "onset_qualifier_closure_label": null,
"sex_qualifier_label": null,
"sex_qualifier_namespace": null,
"sex_qualifier_category": null,
+ "sex_qualifier_closure": null,
+ "sex_qualifier_closure_label": null,
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
+ "stage_qualifier_closure": null,
+ "stage_qualifier_closure_label": null,
"disease_context_qualifier": null,
"disease_context_qualifier_label": null,
"disease_context_qualifier_namespace": null,
"disease_context_qualifier_category": null,
"disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
+ "disease_context_qualifier_closure_label": null
}
- ],
- "facet_fields": [],
- "facet_queries": []
+ ]
}
diff --git a/frontend/fixtures/autocomplete.json b/frontend/fixtures/autocomplete.json
index 51f41fc53..d325678db 100644
--- a/frontend/fixtures/autocomplete.json
+++ b/frontend/fixtures/autocomplete.json
@@ -1,7 +1,7 @@
{
"limit": 10,
"offset": 0,
- "total": 328,
+ "total": 326,
"items": [
{
"id": "MONDO:0009215",
@@ -53,27 +53,27 @@
"HP:0000028",
"HP:0001873",
"HP:0009778",
- "HP:0001896",
"HP:0009777",
+ "HP:0001000",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0001896",
"HP:0000568",
"HP:0001518",
"HP:0003221",
- "HP:0001000",
- "HP:0000252",
- "HP:0001249",
"HP:0009943",
"HP:0001627",
"HP:0000978",
"HP:0030680",
"HP:0001903",
"HP:0000957",
- "HP:0000815",
"HP:0001909",
"HP:0012210",
"HP:0000081",
"HP:0000085",
"HP:0003251",
- "HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
@@ -89,27 +89,27 @@
"Cryptorchidism",
"Thrombocytopenia",
"Short thumb",
- "Reticulocytopenia",
"Absent thumb",
+ "Abnormality of skin pigmentation",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Reticulocytopenia",
"Microphthalmia",
"Small for gestational age",
"Chromosomal breakage induced by crosslinking agents",
- "Abnormality of skin pigmentation",
- "Microcephaly",
- "Intellectual disability",
"Complete duplication of thumb phalanx",
"Abnormal heart morphology",
"Bruising susceptibility",
"Abnormal cardiovascular system morphology",
"Anemia",
"Cafe-au-lait spot",
- "Hypergonadotropic hypogonadism",
"Leukemia",
"Abnormal renal morphology",
"Duplicated collecting system",
"Horseshoe kidney",
"Male infertility",
- "Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
@@ -117,1939 +117,1893 @@
"Deficient excision of UV-induced pyrimidine dimers in DNA"
],
"has_phenotype_closure": [
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
+ "UPHENO:0051124",
+ "GO:0046483",
"UPHENO:0050116",
- "UPHENO:0049671",
+ "UPHENO:0049586",
+ "UPHENO:0049964",
"GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
+ "GO:0006950",
+ "GO:0051716",
+ "HP:0003213",
+ "UPHENO:0050121",
+ "GO:0051319",
+ "GO:0007049",
+ "HP:0003214",
"UPHENO:0052160",
"UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
+ "GO:0007605",
+ "GO:0009987",
+ "HP:0000365",
+ "UPHENO:0005596",
"UBERON:0002105",
- "UPHENO:0005517",
+ "UPHENO:0052159",
+ "UPHENO:0052970",
+ "UPHENO:0050625",
+ "UPHENO:0049699",
+ "UPHENO:0049703",
+ "GO:0006807",
"HP:0031704",
- "GO:0007605",
+ "UPHENO:0049989",
+ "UPHENO:0005512",
+ "GO:0050954",
+ "UPHENO:0005518",
"UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
"HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
+ "HP:0000708",
+ "NBO:0000444",
+ "UPHENO:0002219",
+ "NBO:0000338",
+ "UPHENO:0079828",
+ "GO:0007610",
+ "UPHENO:0002211",
+ "HP:0000496",
+ "HP:0011018",
+ "UBERON:0000015",
+ "UBERON:0010222",
+ "BFO:0000141",
+ "HP:0000486",
"UPHENO:0000543",
"HP:0001510",
"HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000789",
- "HP:0012041",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
"UPHENO:0041226",
+ "UPHENO:0041465",
+ "GO:0007600",
+ "UPHENO:0041075",
"UPHENO:0041629",
- "UPHENO:0080300",
- "HP:0000081",
- "HP:0004742",
"UPHENO:0075787",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "UPHENO:0053612",
- "HP:0100542",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
+ "UPHENO:0054970",
+ "UPHENO:0050234",
"UPHENO:0080662",
- "HP:0001903",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
+ "UPHENO:0054957",
"HP:0002597",
- "UPHENO:0002576",
- "UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004507",
- "UPHENO:0004827",
+ "HP:0001933",
+ "GO:0071704",
+ "MPATH:105",
+ "UPHENO:0002678",
+ "UBERON:0007798",
"MPATH:603",
- "UPHENO:0003086",
- "HP:0004377",
"MPATH:119",
+ "GO:0006139",
+ "HP:0011354",
+ "UBERON:0000477",
+ "MPATH:0",
+ "HP:0001892",
+ "MPATH:1000",
"UBERON:0000948",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0009142",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
- "UBERON:5101463",
- "HP:0001933",
+ "HP:0001627",
+ "HP:0030680",
+ "HP:0001626",
+ "UBERON:0001009",
+ "UPHENO:0050019",
+ "UBERON:0005181",
+ "UBERON:0005178",
"UBERON:0015063",
"UBERON:5106048",
+ "UBERON:5102389",
"UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
- "UBERON:0003620",
- "UBERON:0012358",
+ "UBERON:0011818",
+ "HP:0011314",
+ "UBERON:0015023",
+ "UBERON:0015024",
+ "UBERON:5101463",
+ "GO:0090304",
+ "UBERON:0012150",
+ "HP:0009942",
"HP:0009943",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "GO:0050877",
- "HP:0001249",
- "UPHENO:0002433",
- "HP:0012638",
- "UPHENO:0002267",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0076702",
- "UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
- "UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
- "UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
- "UBERON:0001890",
- "UPHENO:0050008",
- "UPHENO:0053610",
- "GO:0048523",
+ "UBERON:0003221",
+ "UBERON:0012357",
+ "GO:0005623",
+ "UPHENO:0049757",
+ "UPHENO:0049775",
+ "UPHENO:0050784",
+ "HP:0009602",
"UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "HP:0001939",
+ "NBO:0000313",
+ "GO:0010558",
+ "GO:0031327",
+ "UBERON:0000915",
+ "UPHENO:0050065",
"UPHENO:0049904",
+ "GO:0050794",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
+ "GO:0008152",
+ "GO:0051325",
+ "GO:0060255",
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- "UPHENO:0002905",
- "UPHENO:0088148",
+ "UBERON:0001015",
+ "UPHENO:0069062",
+ "UPHENO:0000541",
+ "UBERON:0001436",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0003020",
+ "UBERON:0005944",
+ "UBERON:0000991",
+ "UPHENO:0046750",
+ "UPHENO:0049671",
+ "HP:0009601",
+ "UPHENO:0008668",
+ "UPHENO:0068971",
+ "CL:0000225",
+ "UPHENO:0046741",
+ "UBERON:0002544",
+ "UPHENO:0026308",
+ "UBERON:0003133",
+ "UBERON:5006048",
+ "UBERON:5002389",
+ "UPHENO:0025845",
+ "UPHENO:0075195",
+ "UPHENO:0002352",
+ "UBERON:0015001",
+ "HP:0001155",
+ "UPHENO:0046411",
+ "UPHENO:0001002",
+ "UPHENO:0012308",
+ "UPHENO:0008548",
+ "HP:0000085",
+ "UPHENO:0026108",
+ "UPHENO:0002576",
+ "BFO:0000003",
+ "GO:0043473",
+ "UPHENO:0049587",
+ "BFO:0000015",
+ "UPHENO:0027017",
+ "HP:0012638",
"HP:0011927",
- "CL:0000558",
- "UPHENO:0011825",
- "UPHENO:0008668"
+ "GO:0050877",
+ "UBERON:0002049",
+ "UPHENO:0011533",
+ "UBERON:0001016",
+ "UPHENO:0002269"
],
"has_phenotype_closure_label": [
- "primary metabolic process",
- "cellular response to stimulus",
"response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
"interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
+ "ear",
"sensory perception",
- "Abnormality of the ear",
"decreased sensory perception",
- "cell cycle",
+ "decreased nervous system process",
"decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
"decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
"anatomical line",
- "ectoderm-derived structure physiology phenotype",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
"eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
"size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
- "Male infertility",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Decreased fertility in males",
"Decreased fertility",
- "shape kidney",
- "Abnormal localization of kidney",
+ "Male infertility",
+ "3-D shape anatomical entity",
+ "Abnormality of eye movement",
"concave 3-D shape anatomical entity",
"shape anatomical entity",
"Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
"Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
"Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "ear phenotype",
- "increased pigmentation",
- "glandular system",
- "Cafe-au-lait spot",
- "Hypermelanotic macule",
- "Hyperpigmentation of the skin",
+ "Leukemia",
+ "neoplasm phenotype",
+ "biological_process rate phenotype",
"increased qualitatively biological_process",
- "anatomical cluster",
- "Abnormal bleeding",
+ "Localized skin lesion",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
+ "Macule",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
"Generalized abnormality of skin",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "heart phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "circulatory organ phenotype",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
+ "Vascular skin abnormality",
+ "vasculature",
"Abnormal heart morphology",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "Abnormality of the cardiovascular system",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "Duplication of thumb phalanx",
"Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
"manual digit 1 phalanx",
- "phalanx of manus",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
"phalanx",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "macromolecule metabolic process",
- "Intellectual disability",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Neurodevelopmental abnormality",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of skin pigmentation",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
"regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
+ "regulation of biosynthetic process",
"negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
"regulation of cellular biosynthetic process",
+ "DNA metabolic process",
"negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "decreased qualitatively system process",
- "Abnormality of the nervous system",
- "biological regulation phenotype",
- "regulation of gene expression",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
+ "Chromosomal breakage induced by crosslinking agents",
"negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
"multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
"camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
"Abnormality of the eye",
- "eye",
- "face",
+ "face phenotype",
"orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
+ "sense organ",
"Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
"eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent radius bone in the forelimb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "Short stature",
- "radius bone",
- "absent compound organ in the renal system",
- "blood cell",
- "Abnormality of the immune system",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "decreased biological_process",
- "Absent radius",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "material anatomical entity phenotype",
- "head morphology phenotype",
- "immune system phenotype",
- "cell",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
+ "enucleated reticulocyte morphology phenotype",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "immaterial entity",
+ "Abnormality of chromosome stability",
+ "anatomical entity dysfunction in independent continuant",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "decreased functionality of the organ",
+ "reproductive system physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the material anatomical entity",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the anatomical entity",
+ "endocrine system phenotype",
+ "Opisthokonta",
+ "Abnormal brain morphology",
+ "Abnormal skull morphology",
+ "Abnormality of head or neck",
+ "regional part of nervous system",
+ "brain",
+ "regional part of brain",
+ "craniocervical region phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "cranial skeletal system",
+ "structure with developmental contribution from neural crest",
+ "head phenotype",
+ "telencephalon",
+ "Abnormal axial skeleton morphology",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "organism",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "size of skull phenotype",
+ "craniocervical region",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormality of body weight",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased multicellular organismal process",
+ "root",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "postcranial axial skeleton",
+ "axial skeleton plus cranial skeleton",
+ "structure with developmental contribution from neural crest phenotype",
+ "organic substance metabolic process",
+ "heart",
+ "Abnormality of the head",
+ "Infertility",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "kinesthetic behavior",
+ "Eumetazoa",
+ "skull phenotype",
+ "telencephalon morphology phenotype",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
+ "localised cavitated compound organ",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "localised trunk region element",
+ "Abnormal localization of kidney",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "Aplasia involving bones of the extremities",
+ "All",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "G2 phase",
"nervous system phenotype",
+ "paired limb/fin segment phenotype",
+ "Aplasia involving bones of the upper limbs",
+ "Morphological central nervous system abnormality",
+ "Abnormality of the urinary system",
+ "limb long bone",
+ "eye",
+ "compound organ",
+ "zeugopodial skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "genitourinary system",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
"limb phenotype",
- "absent bone of pectoral complex in the forelimb",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "absent bone of pectoral complex in the limb",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "trunk phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent kidney in the renal system",
- "Abnormal finger phalanx morphology",
+ "paired limb/fin skeleton",
+ "agenesis of anatomical entity",
+ "absent bone of free limb or fin in the limb",
+ "absent lateral structure",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "subdivision of skeleton",
+ "decreased length of autopodial extension",
+ "ectoderm-derived structure",
+ "bone of appendage girdle complex",
+ "Abnormal forebrain morphology",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "pathological phenotype observation",
+ "decreased functionality of the gonad",
"decreased size of the anatomical entity in the pectoral complex",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "aplastic forelimb zeugopod bone",
+ "absent limb bone in the limb",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "absent arm bone in the forelimb",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "cardiovascular system",
+ "absent skeletal element",
+ "aplastic anatomical entity",
+ "arm phenotype",
+ "hematopoietic system",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "testis phenotype",
+ "upper urinary tract phenotype",
+ "absent compound organ",
+ "decreased size of the organism subdivision",
+ "Renal hypoplasia/aplasia",
+ "digit phenotype",
+ "renal system",
+ "absent manual digit",
+ "absent anatomical entity in the renal system",
+ "cell",
+ "limb",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "main body axis",
+ "gonad physiology phenotype",
+ "forebrain",
"myeloid leukocyte phenotype",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "absent abdomen element in the renal system",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "subdivision of trunk phenotype",
- "abdominal segment element phenotype",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
+ "localised multicellular anatomical structure",
+ "excretory system",
+ "cellular process",
+ "long bone morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "absent material anatomical entity in the multicellular organism",
"lateral structure phenotype",
- "material anatomical entity mass phenotype",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "absent trunk region element in the renal system",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "forelimb long bone",
+ "localised male reproductive organ",
+ "Abnormal conjugate eye movement",
+ "forelimb bone",
+ "renal/urinary system phenotype",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "appendicular skeletal system",
+ "Renal agenesis",
+ "Abnormality of the kidney",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "cell cycle",
+ "pectoral complex",
+ "decreased size of the material anatomical entity",
"body proper",
- "face morphology phenotype",
- "subdivision of trunk",
- "absent forelimb long bone in the forelimb",
- "endocrine system phenotype",
- "reproductive system",
- "organism subdivision phenotype",
- "absent multicellular anatomical structure in the renal system",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "upper limb segment phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "multicellular anatomical structure",
- "absent material anatomical entity in the renal system",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "continuant",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "cellular process phenotype",
"absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "heart",
- "limb bone phenotype",
- "renal system",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "absent bone element in the forelimb",
- "lateral structure",
- "absent lateral structure in the renal system",
- "organ phenotype",
- "skeleton",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "genitourinary system phenotype",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "number of anatomical enitites of type kidney phenotype",
- "bone cell",
- "trunk region element phenotype",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "forelimb",
- "digit 1 or 5",
+ "Abnormality of the upper urinary tract",
"number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "number of anatomical enitites of type abdomen element phenotype",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "bone of appendage girdle complex phenotype",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
"central nervous system morphology phenotype",
- "organism subdivision",
- "kidney",
- "reproductive organ phenotype",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "abdominal segment of trunk",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "number of leukocyte phenotype",
- "localised reproductive organ",
- "absent bone of free limb or fin",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "musculature of body phenotype",
- "skin of body morphology phenotype",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "anatomical structure",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "skin of body phenotype",
- "Decreased head circumference",
- "absent bone of free limb or fin in the limb",
- "material anatomical entity",
- "Chromosomal breakage induced by crosslinking agents",
+ "Abnormality of the nervous system",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "Absent thumb",
+ "absent radius endochondral element",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "renal system phenotype",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "Abnormal renal morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
+ "compound organ phenotype",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "arm",
+ "Anemic pallor",
+ "absent limb long bone in the forelimb",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "leukocyte",
+ "simple eye phenotype",
+ "abdomen element",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
"multicellular organism phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "anatomical entity phenotype",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormal skeletal morphology",
- "skeletal element phenotype",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "anatomical collection",
- "organ",
+ "external genitalia phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "anatomical system",
+ "decreased number of platelet",
"decreased number of anatomical entity",
- "absent kidney",
- "forelimb morphology phenotype",
- "Abnormal granulocyte count",
- "long bone",
- "decreased number of leukocyte",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "absent lateral structure",
+ "absent anatomical structure in the forelimb",
+ "integument phenotype",
+ "biological regulation",
+ "absent trunk region element",
+ "abdominal segment of trunk",
+ "Abnormal cellular phenotype",
+ "Duplication of phalanx of hand",
"number of anatomical enitites of type cavitated compound organ phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "multicellular organism",
- "absent bone of appendage girdle complex in the limb",
- "absent organ",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal limb bone morphology",
- "quality",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "limb segment",
- "superficial fascia",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "enucleated reticulocyte morphology phenotype",
- "granulocyte",
- "nucleate cell",
- "bone marrow",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
+ "reproductive structure physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
+ "musculature",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "decreased size of the autopodial extension",
+ "absent bone of pectoral complex in the limb",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "limb endochondral element",
+ "absent limb bone",
+ "Abnormal cell morphology",
+ "phenotype",
+ "eye phenotype",
"Abnormal cellular immune system morphology",
- "autopodial extension phenotype",
- "myeloid leukocyte",
- "decreased number of material anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "neutrophil",
- "absent anatomical structure in the limb",
"skeletal element",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "Growth abnormality",
- "skeletal system phenotype",
- "regulation of biological process",
- "manual digit",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "material entity",
- "leukocyte",
- "Abnormal granulocyte morphology",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
+ "regulation of biosynthetic process phenotype",
"zeugopod",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "hematopoietic cell",
- "absent forelimb zeugopod bone",
- "digit 1 digitopodial skeleton",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
+ "radius endochondral element",
+ "taxon specific phenotype",
+ "granulocyte morphology phenotype",
+ "biological phase",
+ "autopod bone",
+ "mesoderm-derived structure",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "renal collecting system",
+ "Ectopic kidney",
+ "immune system morphology phenotype",
"cell phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "eukaryotic cell",
- "skull",
- "Abnormality of the hand",
- "Short thumb",
- "Abnormality of the genitourinary system",
- "macromolecule metabolic process phenotype",
+ "obsolete cell",
"programmed DNA elimination",
- "system",
- "Thrombocytopenia",
- "Short finger",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "phenotypic effect",
- "number of myeloid cell phenotype",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "Abnormality of blood and blood-forming tissues",
- "hematopoietic system",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "Abnormal cellular phenotype",
+ "anatomical entity morphology phenotype",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "localised kidney",
+ "absent anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "decreased number of anatomical structure",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "platelet phenotype",
+ "integument",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormality of the integument",
+ "primary metabolic process",
+ "forelimb endochondral element",
"Abnormality of the skin",
- "absent arm bone in the forelimb",
- "absent forelimb long bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Neutropenia",
+ "Microcephaly",
+ "multi-tissue structure phenotype",
+ "Abnormality of the musculoskeletal system",
+ "circulatory system",
+ "bone marrow cell",
+ "regulation of gene expression phenotype",
+ "brain morphology phenotype",
+ "system",
+ "absent forelimb bone in the forelimb",
+ "multicellular organism morphology phenotype",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
"number of anatomical enitites of type neutrophil phenotype",
- "All",
- "Abnormal eye morphology",
- "appendicular skeleton",
- "male organism phenotype",
- "Abnormality of the male genitalia",
- "Pallor",
- "reproductive structure phenotype",
- "decreased number of hematopoietic cell",
- "absent anatomical entity in the renal system",
- "autopod region morphology phenotype",
- "skeletal system morphology phenotype",
- "decreased number of cell",
- "growth",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
"entity",
- "subdivision of organism along appendicular axis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "subdivision of organism along main body axis",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "Abnormality of multiple cell lineages in the bone marrow",
"specifically dependent continuant",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased number of neutrophil",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "skeletal system",
- "absent multicellular anatomical structure in the limb",
- "musculature of body",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
+ "arm bone",
+ "absent kidney",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "forelimb long bone phenotype",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
"anatomical structure phenotype",
- "absent limb bone in the limb",
- "lateral structure physiology phenotype",
+ "forelimb zeugopod skeleton",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "bone of free limb or fin phenotype",
"Abnormal erythroid lineage cell morphology",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "absent abdominal segment element",
- "endochondral bone",
- "absent bone of appendage girdle complex",
- "oxygen accumulating cell",
+ "myeloid cell",
+ "immune system",
+ "Absent forearm bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
"Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "main body axis",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
+ "pectoral appendage skeleton",
+ "limb long bone morphology phenotype",
+ "Abnormality of skin pigmentation",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "absent anatomical structure in the limb",
+ "absent anatomical entity",
"integumental system",
- "aplasia or hypoplasia of skeleton",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "erythroid lineage cell morphology phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
+ "granulocyte",
"Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "Renal hypoplasia/aplasia",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "external genitalia",
- "aplasia or hypoplasia of manual digit",
- "eye movement",
- "Infertility",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent radius endochondral element in the forelimb",
- "Abnormality of the vasculature",
- "pectoral appendage",
- "bone element",
- "gonad",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
"limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
+ "absent bone element in the limb",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "Growth delay",
+ "kidney",
+ "decreased size of the multicellular organism",
+ "Abnormality of skull size",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "neutrophil phenotype",
+ "external male genitalia",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "skin of body phenotype",
+ "Abnormal granulocyte count",
+ "absent bone of appendage girdle complex in the limb",
+ "number of cell phenotype",
+ "number of leukocyte phenotype",
+ "platelet",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "multi-tissue structure",
"limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "absent compound organ",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "absent bone element",
"paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "non-connected functional system",
- "gonad phenotype",
- "motile cell",
"decreased size of the digit",
- "regional part of nervous system phenotype",
+ "decreased number of material anatomical entity",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical structure mass phenotype",
+ "decreased functionality of the anatomical structure",
+ "multicellular organism",
+ "Thrombocytopenia",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "long bone",
+ "material entity",
+ "anatomical entity phenotype",
+ "appendage",
+ "localised testis",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent organ",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
"Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
+ "absent lateral structure in the renal system",
+ "absent abdominal segment element",
+ "decreased size of the anatomical entity",
+ "absent material anatomical entity",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "absent abdominal segment element in the renal system",
+ "motile cell",
+ "skeletal system",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "absent abdomen element",
+ "neutrophil",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "continuant",
+ "absent bone of free limb or fin in the forelimb",
+ "manual digit 1 phalanx endochondral element",
+ "forelimb zeugopod bone morphology phenotype",
+ "tissue",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "anatomical structure",
+ "Abnormal bleeding",
+ "immune system phenotype",
+ "skeleton",
+ "paired limb/fin segment",
+ "erythrocyte morphology phenotype",
+ "skeletal element phenotype",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "oxygen accumulating cell",
+ "protein-containing material entity",
+ "segment of manus",
+ "eukaryotic cell",
+ "absent radius bone in the forelimb",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "hematopoietic system phenotype",
+ "ectoderm-derived structure phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forelimb endochondral element phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "Pancytopenia",
+ "acropodium region",
+ "Abnormal skin morphology",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "decreased length of material anatomical entity",
+ "absent organ in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "DNA metabolic process phenotype",
+ "hemolymphoid system",
+ "multi-limb segment region phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "renal system morphology phenotype",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "non-material anatomical boundary",
+ "erythroid lineage cell",
+ "absent limb bone in the forelimb",
"Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "digit 1 plus metapodial segment",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "nervous system physiology phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "manus phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "decreased length of anatomical structure",
+ "absent anatomical structure in the skeletal system",
"absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "behavior phenotype",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "decreased functionality of the multicellular anatomical structure",
+ "decreased length of manual digit 1 or 5",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type bone element phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Abnormal cerebral morphology",
+ "absent endochondral element in the limb",
+ "limb segment phenotype",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "multi-limb segment region",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb bone phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "decreased size of the sense organ",
+ "quality",
+ "anatomical collection phenotype",
+ "subdivision of head",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
+ "cellular response to stimulus phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "Reticulocytopenia",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "Abnormality of the genital system",
+ "vestibulo-auditory system",
"absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "arm bone phenotype",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "serotonin secreting cell",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "absent long bone in the forelimb",
+ "manual digit 1 morphology phenotype",
+ "absent organ in the limb",
+ "Abnormal leukocyte morphology",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "Abnormal platelet morphology",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "central nervous system",
"Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
- "appendage girdle complex",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "long bone phenotype",
- "testis",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Decreased fertility in males",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
"absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
+ "absent endochondral bone in the forelimb",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "Abnormality of the immune system",
+ "Abnormal nervous system physiology",
+ "limb bone morphology phenotype",
+ "delayed growth",
+ "arm bone phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "limb endochondral element phenotype",
+ "anatomical entity length phenotype",
+ "digit",
+ "sensory perception of mechanical stimulus",
+ "skin of body",
+ "Abnormal upper limb bone morphology",
+ "bone of pectoral complex phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "endochondral element",
+ "skeleton of pectoral complex",
+ "forelimb zeugopod morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "absent forelimb endochondral element in the limb",
+ "appendage phenotype",
+ "organism subdivision phenotype",
+ "Abnormality of limbs",
+ "bone of pectoral complex morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "absent long bone",
"Aplasia/hypoplasia involving the skeleton",
- "localised testis",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "aplasia or hypoplasia of radius bone",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
"absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "cavitated compound organ phenotype",
- "biogenic amine secreting cell",
- "cell cycle phenotype",
- "platelet",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
+ "localised organ",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "anatomical entity physiology phenotype",
"absent mesoderm-derived structure in the multicellular organism",
+ "cognition",
+ "endochondral bone phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "decreased length of manual digit",
+ "Aplasia/hypoplasia involving forearm bones",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "absent forelimb zeugopod bone",
+ "forelimb zeugopod bone phenotype",
+ "Abnormal finger phalanx morphology",
+ "pigmentation",
+ "shape of continuant phenotype",
"anucleate cell",
- "Eumetazoa",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "serotonin secreting cell",
"Abnormality of thrombocytes",
- "reproductive structure",
- "male reproductive organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "anatomical entity morphology in the manus phenotype",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "localised anatomical structure",
+ "testis",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "nucleate cell",
+ "reproductive structure phenotype",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
"male reproductive organ",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "Cryptorchidism",
- "thoracic cavity element",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "multicellular anatomical structure phenotype",
+ "absent arm bone",
"reproductive organ",
- "Abnormality of head or neck",
+ "gonad phenotype",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "localised material anatomical entity",
+ "Aplasia/Hypoplasia of fingers",
+ "Neutropenia",
+ "reproductive structure",
"external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
- "localised gonad",
- "primary circulatory organ",
- "head phenotype",
- "anatomical entity",
- "localised organ",
+ "Abnormality of mental function",
+ "increased biological_process in skin of body",
"localised anatomical entity",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
+ "decreased size of the multicellular anatomical structure",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "autopodial skeleton",
+ "ectoderm-derived structure physiology phenotype",
+ "shape kidney",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "manual digit",
+ "abdomen",
"manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
+ "decreased length of organism subdivision",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "subdivision of trunk",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
+ "anterior region of body",
+ "decreased length of manual digit 1",
"skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
+ "digitopodium region",
+ "camera-type eye phenotype",
+ "manus",
+ "Anemia",
+ "manus bone",
+ "radius bone",
+ "Abnormality of the hand",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "digit 1",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "decreased length of multicellular anatomical structure",
+ "digit 1 phenotype",
+ "Abnormal digit morphology",
+ "absent abdomen element in the renal system",
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "autopodial extension phenotype",
+ "manual digit plus metapodial segment",
+ "manual digit phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "pigmentation phenotype",
+ "Short thumb",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
+ "absent multicellular anatomical structure in the renal system",
+ "Short digit",
+ "upper urinary tract",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormality of the male genitalia",
"manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
+ "decreased length of digit",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "organ",
+ "decreased size of the anatomical structure",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
"Abnormal erythrocyte morphology",
- "aplastic manual digit 1"
+ "Abnormal finger morphology",
+ "Subcutaneous hemorrhage",
+ "absent organism subdivision in the multicellular organism",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "absent organism subdivision",
+ "Neurodevelopmental abnormality",
+ "absent autopodial extension",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "genitourinary system phenotype",
+ "biological_process",
+ "process",
+ "Duplication of hand bones",
+ "nervous system process",
+ "anatomical structure physiology phenotype",
+ "bone marrow",
+ "Intellectual disability",
+ "system process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype"
],
"has_phenotype_count": 34,
"highlight": null,
@@ -2090,20 +2044,27 @@
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0000470",
+ "HP:0007018",
+ "HP:0009777",
+ "HP:0002575",
+ "HP:0000238",
+ "HP:0040012",
+ "HP:0000465",
+ "HP:0000582",
+ "HP:0008551",
+ "HP:0004590",
+ "HP:0000316",
+ "HP:0002188",
"HP:0001776",
"HP:0000369",
"HP:0000347",
"HP:0003974",
- "HP:0000465",
- "HP:0007018",
"HP:0001510",
"HP:0001511",
- "HP:0009777",
"HP:0000568",
"HP:0009892",
- "HP:0004590",
"HP:0000151",
- "HP:0000470",
"HP:0001263",
"HP:0003221",
"HP:0002032",
@@ -2112,36 +2073,36 @@
"HP:0000431",
"HP:0000175",
"HP:0000054",
- "HP:0002575",
"HP:0005528",
- "HP:0000238",
"HP:0000437",
- "HP:0000316",
- "HP:0040012",
- "HP:0008551",
"HP:0001903",
"HP:0000957",
"HP:0000122",
"HP:0000089",
- "HP:0002023",
- "HP:0002188",
- "HP:0000582"
+ "HP:0002023"
],
"has_phenotype_label": [
+ "Short neck",
+ "Attention deficit hyperactivity disorder",
+ "Absent thumb",
+ "Tracheoesophageal fistula",
+ "Hydrocephalus",
+ "Chromosome breakage",
+ "Webbed neck",
+ "Upslanted palpebral fissure",
+ "Microtia",
+ "Hypoplastic sacrum",
+ "Hypertelorism",
+ "Delayed CNS myelination",
"Bilateral talipes equinovarus",
"Low-set ears",
"Micrognathia",
"Absent radius",
- "Webbed neck",
- "Attention deficit hyperactivity disorder",
"Growth delay",
"Intrauterine growth retardation",
- "Absent thumb",
"Microphthalmia",
"Anotia",
- "Hypoplastic sacrum",
"Aplasia of the uterus",
- "Short neck",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
"Esophageal atresia",
@@ -2150,2498 +2111,2371 @@
"Wide nasal bridge",
"Cleft palate",
"Micropenis",
- "Tracheoesophageal fistula",
"Bone marrow hypocellularity",
- "Hydrocephalus",
"Depressed nasal tip",
- "Hypertelorism",
- "Chromosome breakage",
- "Microtia",
"Anemia",
"Cafe-au-lait spot",
"Unilateral renal agenesis",
"Renal hypoplasia",
- "Anal atresia",
- "Delayed CNS myelination",
- "Upslanted palpebral fissure"
+ "Anal atresia"
],
"has_phenotype_closure": [
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- "HP:0000582",
- "HP:0030669",
- "UBERON:0001711",
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- "CL:0000081",
- "CL:0000232",
- "HP:0000924",
- "HP:0012130",
+ "UPHENO:0081511",
+ "HP:0000437",
+ "UPHENO:0041203",
"CL:0000764",
- "UPHENO:0088170",
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- "HP:0001877",
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+ "UBERON:0002405",
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+ "HP:0001574",
+ "GO:0043473"
],
"has_phenotype_closure_label": [
- "multi organ part structure phenotype",
- "Slanting of the palpebral fissure",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eyelid",
- "palpebral fissure",
- "Abnormality of the palpebral fissures",
- "multi organ part structure",
- "Upslanted palpebral fissure",
- "delayed axon ensheathment in central nervous system",
- "Abnormal CNS myelination",
- "myelination phenotype",
- "cellular developmental process",
- "delayed cellular process",
- "central nervous system development",
- "axon ensheathment in central nervous system",
- "glial cell differentiation",
- "glial cell development",
- "ensheathment of neurons phenotype",
- "central nervous system myelination phenotype",
- "cellular process",
- "delayed central nervous system myelination",
- "delayed ensheathment of neurons",
- "axon ensheathment in central nervous system phenotype",
- "oligodendrocyte differentiation",
- "gliogenesis",
- "axon ensheathment",
- "cell development",
- "delayed myelination",
- "Abnormal anus morphology",
- "orifice",
- "anus phenotype",
- "anus atresia",
- "Abnormality of the anus",
- "anatomical conduit atresia",
"anus",
- "orifice phenotype",
+ "anatomical conduit atresia",
+ "anus morphology phenotype",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "orifice atresia",
+ "closing of the ectoderm-derived structure",
+ "Renal hypoplasia",
"kidney hypoplasia",
- "absent abdomen element",
- "number of anatomical enitites of type compound organ phenotype",
- "absent trunk region element in the renal system",
- "renal system morphology phenotype",
- "absent kidney in the renal system",
- "excretory system",
- "absent abdomen element in the renal system",
"upper urinary tract",
- "kidney phenotype",
+ "absent multicellular anatomical structure in the renal system",
+ "upper urinary tract phenotype",
+ "absent compound organ",
+ "kidney morphology phenotype",
"Renal hypoplasia/aplasia",
- "absent cavitated compound organ in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "renal/urinary system phenotype",
- "absent kidney",
- "Unilateral renal agenesis",
- "absent anatomical structure in the renal system",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
"abdomen element phenotype",
- "abdomen element",
- "number of anatomical enitites of type cavitated compound organ phenotype",
+ "renal system",
+ "absent compound organ in the renal system",
+ "excretory system",
+ "number of anatomical enitites of type kidney phenotype",
"cavitated compound organ",
+ "absent organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "absent lateral structure in the renal system",
+ "Abnormal anus morphology",
+ "compound organ phenotype",
"abdomen",
- "Irregular hyperpigmentation",
- "integumental system",
- "Abnormality of the integument",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
+ "absent cavitated compound organ",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent trunk region element in the multicellular organism",
"renal system phenotype",
- "integument phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of the hand",
- "skull",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "absent organism subdivision",
- "head bone",
- "skeleton of manus",
- "Abnormal hand morphology",
- "manual digit 1",
- "bone of appendage girdle complex",
- "upper jaw region",
- "manual digit morphology in the manus phenotype",
- "manual digit 1 plus metapodial segment",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "head",
- "regional part of brain",
+ "absent cavitated compound organ in the renal system",
+ "renal/urinary system phenotype",
+ "Abnormality of the upper urinary tract",
+ "kidney phenotype",
+ "absent abdomen element",
+ "number of anatomical enitites of type compound organ phenotype",
+ "absent anatomical structure in the renal system",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "Irregular hyperpigmentation",
+ "kidney",
+ "bony pelvis",
+ "Abnormal sacrum morphology",
+ "aplastic manual digit 1",
+ "trunk region element phenotype",
+ "aplasia or hypoplasia of vertebral column",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
"manus morphology phenotype",
- "absent uterus",
+ "sacral region",
"reproductive system",
- "embryo development rate phenotype",
- "paired limb/fin segment",
- "cerebellum",
- "decreased qualitatively embryo development",
- "absent material anatomical entity in the head",
- "absent material anatomical entity in the reproductive system",
- "skin of body",
- "multicellular organism development phenotype",
- "male reproductive system phenotype",
- "developmental process",
- "anatomical structure development phenotype",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "developmental process rate phenotype",
- "ensheathment of neurons",
- "subdivision of head",
- "growth",
- "entity",
- "Growth delay",
- "respiratory system",
- "Hypoplastic facial bones",
- "absent multicellular anatomical structure in the renal system",
- "attention behavior",
- "multicellular organism development",
- "Abnormal volitional state",
+ "sacral region of vertebral column phenotype",
+ "trachea",
+ "Aplasia/Hypoplasia of the sacrum",
+ "endoderm-derived structure",
+ "trunk region element",
+ "Abnormal pinna morphology",
+ "dorsal part of neck",
+ "lateral structure phenotype",
+ "shape of external ear phenotype",
"Abnormality of the nervous system",
- "Disinhibition",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "material anatomical entity physiology phenotype",
- "decreased length of neck",
- "Micrognathia",
- "aplastic manual digit 1",
- "Atypical behavior",
- "nervous system physiology phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "Attention deficit hyperactivity disorder",
- "Abnormal erythroid lineage cell morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "multicellular organismal process",
- "decreased behavior",
- "bone of jaw phenotype",
- "biological_process",
- "limb phenotype",
- "absent reproductive structure in the female reproductive system",
- "behavior process phenotype",
- "oligodendrocyte development",
- "social behavior",
- "nervous system process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "neck",
+ "increased qualitatively biological_process",
+ "shape of continuant phenotype",
+ "ear morphology phenotype",
+ "Abnormality of the face",
+ "eyelid",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
"Abnormality of the orbital region",
- "decreased embryo development",
- "Abnormality of the neck",
- "arm phenotype",
- "bone of pectoral complex phenotype",
- "digit 1",
- "curvature anatomical entity",
- "mesoderm-derived structure",
- "absent endochondral bone in the forelimb",
- "digestive system element atresia",
- "flat nose tip",
- "appendicular skeleton phenotype",
- "tracheobronchial tree morphology phenotype",
- "absent limb bone",
- "aplasia or hypoplasia of mandible",
- "increased size of the non-material anatomical boundary",
- "absent endochondral element",
- "agenesis of anatomical entity",
- "bone of appendage girdle complex phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of digestive tract atresia",
- "limb bone morphology phenotype",
- "digestive system element",
- "external genitalia",
- "absent radius endochondral element",
- "forelimb skeleton phenotype",
- "absent forelimb endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "central nervous system myelination",
- "long bone phenotype",
- "size of eyeball of camera-type eye phenotype",
- "Abnormal nervous system physiology",
- "absent bone element",
- "increased width of anatomical structure",
- "nasal bridge phenotype",
- "Abnormal social behavior",
- "zeugopodial skeleton",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "absent forelimb long bone in the forelimb",
- "absent abdominal segment element",
- "skeleton of lower jaw phenotype",
- "Abnormal affect",
- "absent bone of free limb or fin",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Aplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "Aplasia/Hypoplasia involving bones of the skull",
- "absent limb endochondral element in the limb",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "flat anatomical entity",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "mouth morphology phenotype",
- "absent limb bone in the forelimb",
- "renal system",
- "absent mesoderm-derived structure in the multicellular organism",
+ "roof of mouth",
+ "Slanting of the palpebral fissure",
+ "Aplasia/Hypoplasia of the external ear",
+ "absent uterus",
+ "Abnormal eyelid morphology",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "ocular adnexa phenotype",
+ "metencephalon",
+ "face phenotype",
+ "Reduced attention regulation",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "absent organism subdivision in the head",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
+ "orbital region",
+ "non-connected functional system",
+ "palpebral fissure phenotype",
+ "orifice phenotype",
+ "eyelid morphology phenotype",
+ "male reproductive organ",
+ "multi organ part structure phenotype",
+ "Abnormality of the head",
+ "increased length of the anatomical line between pupils",
+ "face morphology phenotype",
+ "negative regulation of cellular process",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "absent kidney",
+ "decreased social inhibition",
+ "immaterial entity",
+ "negative regulation of cellular biosynthetic process",
+ "organ subunit",
+ "homeostatic process",
+ "attention behavior",
+ "metabolic process",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "negative regulation of biological process phenotype",
+ "closing of the subdivision of digestive tract",
+ "Abnormal cellular phenotype",
+ "regulation of cellular process phenotype",
+ "regulation of metabolic process phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "nose tip",
+ "zeugopod",
+ "absent material anatomical entity in the renal system",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "negative regulation of cellular process phenotype",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "pigmentation phenotype",
+ "autopodial extension",
+ "manual digit 1",
+ "decreased size of the ectoderm-derived structure",
+ "ear",
+ "regulation of cellular biosynthetic process phenotype",
+ "subdivision of digestive tract",
+ "digestive system",
+ "obsolete cell",
"anatomical entity morphology phenotype",
- "absent organ in the limb",
- "biological_process phenotype",
- "orifice atresia",
- "Craniofacial cleft",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "subdivision of organism along main body axis",
+ "dermal skeletal element",
+ "number of anatomical enitites of type organ part phenotype",
+ "external ear",
+ "structure with developmental contribution from neural crest phenotype",
+ "increased number of organ part",
+ "structure with developmental contribution from neural crest",
+ "Abnormal cerebral ventricle morphology",
+ "bone of craniocervical region",
+ "intromittent organ phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "hindbrain morphology phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "system",
+ "regulation of gene expression phenotype",
+ "subdivision of head phenotype",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Hypertelorism",
+ "Morphological central nervous system abnormality",
+ "Absent radius",
+ "Abnormal skin morphology",
+ "subdivision of vertebral column phenotype",
+ "Abnormality of the outer ear",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "Abnormal tracheal morphology",
+ "bodily fluid",
+ "multi-tissue structure",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "Abnormality of the digestive system",
+ "cerebrospinal fluid",
+ "organism substance",
+ "organ part phenotype",
+ "increased number of multicellular anatomical structure",
+ "fused sacrum",
+ "increased number of anatomical structure",
+ "ventricle of nervous system phenotype",
+ "transudate",
+ "cerebellum phenotype",
+ "brain ventricle morphology phenotype",
+ "absent anatomical entity in the reproductive system",
+ "subdivision of tube",
+ "respiratory airway",
+ "incomplete closing of the roof of mouth",
+ "brain ventricle/choroid plexus phenotype",
+ "digestive system phenotype",
+ "respiratory system",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digestive tract",
+ "camera-type eye morphology phenotype",
+ "pelvic region element phenotype",
+ "viscus",
+ "vertebral element",
+ "reproductive organ phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "Abnormality of the respiratory system",
+ "Abnormal respiratory system physiology",
+ "thoracic segment of trunk",
+ "compound organ",
+ "eye",
+ "axon ensheathment in central nervous system",
+ "Aplasia/Hypoplasia of the ear",
"Tracheoesophageal fistula",
- "female reproductive system morphology phenotype",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
+ "absent anatomical structure in the reproductive system",
+ "programmed DNA elimination",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal volitional state",
+ "ventricular system of brain",
"number of anatomical enitites of type organ component layer phenotype",
- "Hypermelanotic macule",
- "hindbrain",
+ "Abnormal respiratory system morphology",
+ "cervical region of vertebral column",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "external ear phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "visual system",
+ "lower respiratory tract",
+ "flat anatomical entity",
+ "alimentary part of gastrointestinal system phenotype",
+ "regulation of metabolic process",
+ "pectoral appendage skeleton",
+ "pes",
+ "absent trunk region element",
+ "intramembranous bone phenotype",
"skull phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "autopodial extension",
- "reproductive system phenotype",
- "absent forelimb bone",
- "endochondral element",
- "absent multicellular anatomical structure in the head",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "Microtia",
- "absent arm bone",
- "limb long bone phenotype",
- "forelimb zeugopod",
- "number of anatomical enitites of type endochondral bone phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "absent radius endochondral element in the forelimb",
- "absent mesoderm-derived structure in the forelimb",
- "facial bone",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
+ "female reproductive system phenotype",
+ "orifice",
+ "upper digestive tract",
+ "anatomical system",
+ "increased number of brain ventricle/choroid plexus",
+ "membrane bone",
"bone of pectoral complex morphology phenotype",
- "absent compound organ",
- "intramembranous bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "aplasia or hypoplasia of manual digit",
- "absent organ in the forelimb",
- "Abnormal social development",
- "absent bone element in the forelimb",
- "intramembranous bone",
- "absent bone of pectoral complex",
- "Abnormality of the female genitalia",
- "bone of pectoral complex",
- "bone of free limb or fin",
- "decreased qualitatively behavior",
- "forelimb zeugopod skeleton",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "Abnormal penis morphology",
- "forelimb",
+ "tracheobronchial tree",
+ "abdominal segment of trunk",
+ "Global developmental delay",
+ "organ atresia",
+ "alimentary part of gastrointestinal system",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth",
+ "absent organ part",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "absent digit",
+ "Abnormal esophagus morphology",
+ "absent forelimb endochondral element",
+ "bone of appendage girdle complex phenotype",
+ "absent material anatomical entity in the limb",
+ "behavior process",
+ "limb bone phenotype",
+ "autopod region morphology phenotype",
+ "Abnormal hand morphology",
+ "Metazoa",
"absent limb endochondral element",
- "digit 1 or 5",
- "Intrauterine growth retardation",
- "aplasia or hypoplasia of radius bone",
- "myelination",
- "Abnormal metencephalon morphology",
- "number of anatomical enitites of type organ phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "trunk region element",
- "forelimb long bone phenotype",
- "Cognitive impairment",
- "absent radius bone",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
+ "Micropenis",
+ "Abnormality of limbs",
+ "Abnormal affect",
+ "organ part",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "head bone phenotype",
+ "cavitated compound organ phenotype",
+ "Abnormal ocular adnexa morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "jaw region",
+ "renal system morphology phenotype",
+ "Abnormality of the female genitalia",
+ "mesoderm-derived structure phenotype",
+ "pelvic region of trunk",
+ "palpebral fissure",
+ "pectoral complex",
+ "head",
+ "disconnected anatomical group",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "internal genitalia phenotype",
+ "esophagus",
+ "sacral region of vertebral column",
+ "central nervous system development",
+ "hemolymphoid system",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "Abnormality of the kidney",
+ "orbital region phenotype",
+ "biological regulation",
+ "Abnormal penis morphology",
+ "anatomical collection phenotype",
+ "quality",
+ "aplasia or hypoplasia of external ear",
+ "decreased size of the sense organ",
+ "Abnormally increased volition",
+ "Abnormal renal morphology",
+ "radius endochondral element",
+ "dorsum",
+ "closing of the anatomical structure",
+ "cervical region",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "cervical vertebra endochondral element phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "decreased size of the organism subdivision",
+ "digit plus metapodial segment",
+ "external soft tissue zone",
+ "skeletal element phenotype",
+ "limb bone morphology phenotype",
+ "nervous system process",
+ "anatomical structure physiology phenotype",
+ "facial bone phenotype",
+ "bone element",
+ "aplasia or hypoplasia of cerebellum",
+ "anatomical structure",
+ "musculature of body",
+ "ear phenotype",
+ "decreased qualitatively biological_process",
+ "anatomical entity",
+ "main body axis",
+ "organism subdivision",
+ "absent endochondral element in the limb",
+ "decreased size of the anatomical structure",
+ "organ",
+ "vertebral element phenotype",
+ "vertebra",
"Abnormal forearm morphology",
- "vertebral column",
- "increased number of anatomical entity",
+ "proximo-distal subdivision of respiratory tract",
+ "brain ventricle/choroid plexus",
+ "Short attention span",
+ "system process",
+ "external male genitalia hypoplasia",
+ "Abnormality of globe size",
+ "Hypoplastic sacrum",
+ "Aplasia/Hypoplasia of facial bones",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "craniocervical region phenotype",
+ "abdominal segment bone",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "nervous system morphology phenotype",
+ "developmental process",
+ "cell phenotype",
+ "anatomical entity hypoplasia in face",
+ "opening of the anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "skeletal system morphology phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus",
+ "increased size of the immaterial anatomical entity",
+ "neck",
"absent anatomical structure",
- "arm bone",
- "ear",
- "dermatocranium",
- "subdivision of oviduct phenotype",
- "Abnormal palate morphology",
- "Abnormal erythrocyte morphology",
- "absent multicellular anatomical structure",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "number of anatomical enitites of type bone element phenotype",
+ "absent external ear",
+ "increased size of the ectoderm-derived structure",
+ "pelvic region element",
+ "material entity",
+ "negative regulation of biosynthetic process",
+ "long bone",
+ "ocular adnexa",
+ "female reproductive organ",
+ "Abnormality of head or neck",
+ "decreased biological_process",
+ "anatomical entity length phenotype",
+ "decreased length of material anatomical entity",
+ "delayed axon ensheathment in central nervous system",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "increased number of organ component layer",
+ "anatomical system physiology phenotype",
+ "nervous system",
+ "head phenotype",
"forelimb zeugopod bone",
- "brain ventricle",
- "pectoral appendage",
- "bone element",
+ "aplastic anatomical entity",
+ "anterior region of body",
+ "appendicular skeleton",
+ "Abnormal cerebellum morphology",
+ "Abnormality of multiple cell lineages in the bone marrow",
"absent anatomical entity in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "delayed growth",
- "embryo development phenotype",
- "decreased rate of behavior process",
- "vestibulo-auditory system",
- "absent material anatomical entity in the multicellular organism",
- "behavior process",
- "external ear hypoplasia",
- "segment of manus",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "aplasia or hypoplasia of ear",
+ "independent continuant",
+ "anatomical line between pupils",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "increased size of the non-material anatomical boundary",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "musculature phenotype",
+ "aplasia or hypoplasia of skull",
+ "sense organ",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "regulation of biosynthetic process phenotype",
+ "anatomical system phenotype",
+ "central nervous system morphology phenotype",
+ "cervical vertebra endochondral element",
+ "Abnormal limb bone morphology",
+ "decreased length of neck",
+ "postcranial axial skeleton",
+ "multicellular organism",
+ "skeleton",
+ "negative regulation of gene expression",
+ "vertebra phenotype",
+ "upper jaw region",
+ "nervous system physiology phenotype",
"absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeletal system",
- "absent anatomical entity",
- "acropodium region",
- "sacral region",
- "arm",
- "skeleton of limb phenotype",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "organ system subdivision",
+ "closing of the multicellular anatomical structure",
+ "trunk",
+ "Abnormality of the vertebral column",
+ "irregular bone phenotype",
+ "digit 1 or 5 phenotype",
+ "respiratory tube",
+ "respiratory tract",
+ "alimentary part of gastrointestinal system atresia",
+ "organ system subdivision phenotype",
+ "regulation of biological process phenotype",
+ "absent multicellular anatomical structure",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "vertebral column phenotype",
+ "autopodial extension phenotype",
+ "abdominal segment element",
+ "musculoskeletal system",
+ "Short neck",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "skeleton of limb",
+ "neck morphology phenotype",
+ "Abnormality of the urinary system",
+ "closing of the subdivision of tube",
+ "subdivision of skeletal system",
+ "entity",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "trunk or cervical vertebra phenotype",
+ "absent endochondral bone in the forelimb",
+ "bone of dorsum phenotype",
+ "trunk or cervical vertebra",
+ "Recurrent maladaptive behavior",
+ "ventricular system of central nervous system",
+ "neck bone",
+ "regulation of cellular process",
+ "lower limb segment phenotype",
+ "absent forelimb long bone in the forelimb",
+ "Phenotypic abnormality",
+ "cervical vertebra",
+ "neck phenotype",
+ "increased number of anatomical entity",
+ "craniocervical region",
+ "axon ensheathment phenotype",
+ "neck bone phenotype",
+ "Anal atresia",
"anatomical conduit",
- "closing of the organ part",
- "number of anatomical enitites of type trunk region element phenotype",
- "male reproductive organ phenotype",
- "decreased biological_process",
- "Absent radius",
- "female organism phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "absent anatomical structure in the ear",
- "manual digit 1 or 5",
+ "multicellular anatomical structure phenotype",
+ "reproductive system phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "incomplete closing of the anatomical entity",
+ "nose tip phenotype",
+ "endochondral element phenotype",
+ "Abnormality of the neck",
+ "decreased behavior",
+ "Abnormal reproductive system morphology",
+ "delayed ensheathment of neurons",
+ "Abdominal symptom",
+ "dermal bone phenotype",
+ "phenotype",
+ "brain",
+ "glial cell development",
+ "anatomical space",
+ "cognitive behavior",
+ "decreased size of the multicellular anatomical structure",
+ "increased biological_process in skin of body",
+ "digit 1 or 5",
+ "bone of jaw",
+ "absent anatomical entity in the renal system",
+ "incomplete closing of the material anatomical entity",
+ "decreased length of multicellular anatomical structure",
+ "Chromosome breakage",
+ "paired limb/fin",
+ "Delayed myelination",
"number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "developmental process phenotype",
- "Abnormal myelination",
- "Finger aplasia",
- "Abnormal gastrointestinal tract morphology",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "non-connected functional system",
+ "bone of jaw phenotype",
+ "Abnormality of skin pigmentation",
+ "size of anatomical entity phenotype",
+ "Abnormal brain morphology",
+ "skeleton of lower jaw",
+ "bone of free limb or fin phenotype",
+ "Attention deficit hyperactivity disorder",
+ "snout morphology phenotype",
+ "anatomical entity phenotype",
+ "mandible phenotype",
+ "axial skeletal system",
+ "Growth abnormality",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "organism",
"secondary palate",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "shape anatomical entity",
- "forelimb skeleton",
- "trunk or cervical vertebra",
- "Low-set ears",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "absent bone of free limb or fin in the limb",
- "location of anatomical entity phenotype",
- "absent anatomical structure in the limb",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Abnormal location of ears",
- "Abnormality of the outer ear",
- "forelimb zeugopod phenotype",
- "esophagus",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "forelimb endochondral element phenotype",
- "autopod region phenotype",
- "mandible morphology phenotype",
- "Abnormal respiratory system physiology",
- "musculature",
- "subdivision of organism along main body axis",
- "Talipes equinovarus",
- "craniocervical region phenotype",
- "pelvic region element phenotype",
- "Hypertelorism",
- "absent anatomical entity in the multicellular organism",
- "absent anatomical entity in the female reproductive system",
- "metabolic process",
- "shape of external ear phenotype",
- "autopodial extension phenotype",
- "decreased multicellular organismal process",
- "Abnormality of head or neck",
+ "vertebral column",
+ "thoracic cavity element",
+ "Abnormal nasal morphology",
+ "absent autopodial extension",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nasal bridge",
+ "decreased length of organism subdivision",
+ "bone of lower jaw",
+ "simple eye",
+ "cervical vertebra phenotype",
"sensory system",
- "digit phenotype",
- "posterior region of body",
- "increased length of the non-material anatomical boundary",
- "anatomical structure physiology phenotype",
- "Decreased anatomical entity position",
- "Aplasia involving bones of the upper limbs",
- "hindlimb phenotype",
- "continuant",
- "Abnormality of the face",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "absent forelimb long bone",
- "craniocervical region",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "decreased length of anatomical structure",
+ "agenesis of anatomical entity",
+ "All",
+ "nervous system phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "skeletal system",
+ "Abnormality of the ear",
+ "endochondral bone phenotype",
+ "Abnormal social development",
+ "cognition",
+ "uterus phenotype",
"Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "head morphology phenotype",
- "immune system phenotype",
- "entire sense organ system",
- "organ subunit",
- "immaterial entity",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "bone of free limb or fin phenotype",
- "pelvic complex",
- "regulation of biosynthetic process",
- "multicellular anatomical structure phenotype",
- "oviduct",
- "reproductive organ",
- "increased width of nasal bridge",
- "midface phenotype",
- "organ",
- "dermatocranium phenotype",
- "digit 1 or 5 phenotype",
- "system",
- "programmed DNA elimination",
- "Abnormal appendicular skeleton morphology",
+ "multi-tissue structure phenotype",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "esophagus morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "craniofacial/craniocervical phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "body proper",
+ "dorsal region element",
"taxon specific phenotype",
- "Abnormally increased volition",
- "anatomical entity morphology in the pectoral complex phenotype",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "Abnormal morphology of female internal genitalia",
- "quality",
- "leg",
- "organ system subdivision phenotype",
- "homeostatic process",
- "manual digit phenotype",
- "mouth",
- "Abnormality of the urinary system",
- "face phenotype",
- "dermal bone phenotype",
- "vertebra",
- "cerebrospinal fluid",
- "specifically dependent continuant",
- "digitopodium region",
- "absent bone element in the limb",
- "trachea",
- "anatomical system",
- "Positional foot deformity",
- "Wide nasal bridge",
- "Bilateral talipes equinovarus",
- "social inhibition",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased qualitatively biological_process",
- "pes",
- "absent organ",
- "process",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "arm bone phenotype",
- "Abnormal morphology of the radius",
- "cell differentiation",
- "Decreased external ear position",
"skeletal element",
- "subdivision of skeletal system phenotype",
- "paired limb/fin phenotype",
- "dermal skeleton phenotype",
- "paired limb/fin segment phenotype",
- "cervical vertebra",
- "compound organ",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "anatomical system phenotype",
- "Eukaryota",
- "brain ventricle morphology phenotype",
- "skeletal system morphology phenotype",
- "lower limb segment",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "head bone phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
+ "Abnormality of the immune system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "Abnormal ear morphology",
+ "Abnormal finger morphology",
+ "absent organism subdivision in the multicellular organism",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "aplasia or hypoplasia of skeleton",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "multicellular organismal process phenotype",
+ "increased number of material anatomical entity",
+ "absent anatomical structure in the limb",
+ "decreased qualitatively multicellular organismal process",
+ "absent abdominal segment element",
+ "Unilateral renal agenesis",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "digitopodium region",
+ "thoracic segment organ atresia",
+ "Aplasia/Hypoplasia of fingers",
+ "mouth morphology phenotype",
+ "genitourinary system phenotype",
+ "Abnormality of mental function",
+ "Depressed nasal tip",
+ "decreased multicellular organismal process",
+ "upper limb segment phenotype",
+ "Cognitive impairment",
+ "Webbed neck",
+ "absent material anatomical entity in the multicellular organism",
"Talipes",
- "decreased size of the anatomical structure",
- "location of ear phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "cranial skeletal system",
- "Microphthalmia",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Aplasia involving forearm bones",
- "organ part atresia",
- "Abnormality of the digestive system",
- "closing of the thoracic segment organ",
- "anatomical entity atresia",
- "myeloid cell",
- "skeletal system phenotype",
- "forelimb morphology phenotype",
- "Aplasia/Hypoplasia of the ear",
- "head phenotype",
- "anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
+ "subdivision of vertebral column",
+ "absent manual digit",
+ "social inhibition",
+ "dorsal region element phenotype",
+ "material anatomical entity physiology phenotype",
+ "Abnormal digit morphology",
+ "material anatomical entity phenotype",
+ "Reduced social responsiveness",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormality of the nose",
+ "absent material anatomical entity in the forelimb",
+ "absent multicellular anatomical structure in the head",
+ "Abnormal neck morphology",
+ "protein-containing material entity",
+ "segment of manus",
+ "sense organ phenotype",
+ "anatomical conduit phenotype",
+ "axial skeleton plus cranial skeleton",
+ "neurogenesis",
+ "Aplasia/hypoplasia involving bones of the hand",
"absent material anatomical entity",
- "cognition",
- "sensation behavior",
- "closing of the subdivision of tube",
- "Abnormal oral cavity morphology",
- "limb skeleton subdivision",
- "Abnormality of metabolism/homeostasis",
- "dentary",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "midface",
- "Delayed myelination",
- "Abnormality of limb bone",
- "external ear",
- "Absent forearm bone",
- "lower jaw region",
- "pes phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "All",
- "tube",
- "subdivision of tube phenotype",
- "cervical vertebra phenotype",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "primary subdivision of skull phenotype",
+ "cerebellum morphology phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "Abnormality of the hand",
+ "Anemia",
+ "absent multicellular anatomical structure in the forelimb",
+ "decreased size of the anatomical entity",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "forelimb morphology phenotype",
+ "absent skeletal element in the limb",
+ "digit",
"decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "appendage phenotype",
- "growth phenotype",
- "absent multicellular anatomical structure in the limb",
- "Abnormal ear morphology",
- "facial bone hypoplasia",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "skeletal element phenotype",
- "Aplasia/Hypoplasia of the mandible",
- "zeugopod",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "mandible",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "limb segment",
- "female reproductive organ",
- "musculoskeletal system",
- "pelvic appendage",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "hindlimb morphology phenotype",
- "regulation of macromolecule metabolic process",
- "absent endochondral element in the forelimb",
- "organ atresia",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "paired limb/fin phenotype",
+ "Abnormal internal genitalia",
+ "autopod region phenotype",
+ "brain morphology phenotype",
"absent mesoderm-derived structure in the limb",
- "Renal agenesis",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "absent trunk region element in the multicellular organism",
- "thoracic cavity element atresia",
- "forelimb endochondral element",
- "craniofacial/craniocervical phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "organism subdivision",
- "absent anatomical entity in the reproductive system",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
+ "abdomen element",
+ "homeostatic process phenotype",
"behavior",
- "leg phenotype",
- "male reproductive system",
- "organism subdivision phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "nose tip morphology phenotype",
- "anatomical entity phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "nose tip phenotype",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "forelimb phenotype",
- "absent bone of appendage girdle complex",
- "internal female genitalia morphology phenotype",
- "external ear morphology phenotype",
- "oxygen accumulating cell",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "absent long bone in the forelimb",
- "tube phenotype",
- "primary subdivision of skull",
- "subdivision of organism along main body axis phenotype",
- "body proper",
- "musculature of body phenotype",
- "nasal bridge",
- "Short attention span",
- "Growth abnormality",
- "bone of jaw",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "long bone morphology phenotype",
- "postcranial axial skeleton",
- "anatomical conduit phenotype",
- "digestive tract",
- "skeleton of limb",
- "ocular adnexa phenotype",
- "Reduced social responsiveness",
- "Bone marrow hypocellularity",
- "absent multicellular anatomical structure in the forelimb",
- "Anemia",
- "number of anatomical enitites of type anatomical structure phenotype",
- "absent forelimb endochondral element in the forelimb",
- "axial skeletal system",
- "Abnormality of the mouth",
- "facial skeleton morphology phenotype",
- "Abnormal pinna morphology",
- "organ part phenotype",
- "dermal skeleton",
- "cerebellum morphology phenotype",
- "Abnormality of the kidney",
- "bone of lower jaw",
- "phenotype",
- "dermal skeletal element",
- "face morphology phenotype",
- "regional part of nervous system phenotype",
- "subdivision of trunk",
- "membrane bone",
- "ear morphology phenotype",
- "organ component layer",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "intromittent organ",
- "anus morphology phenotype",
- "bone of craniocervical region",
+ "Renal agenesis",
"Cleft palate",
- "absent bone of appendage girdle complex in the limb",
- "Hyperactivity",
- "subdivision of digestive tract phenotype",
- "radius endochondral element",
- "anatomical collection",
- "limb bone",
- "camera-type eye phenotype",
- "absent forelimb bone in the forelimb",
- "ear phenotype",
- "mouth phenotype",
- "autopod region morphology phenotype",
- "bone element hypoplasia in face",
- "embryo development",
- "increased width of anatomical entity",
- "location of external ear phenotype",
- "multicellular organism",
- "dermal skeletal element phenotype",
- "bone of lower jaw phenotype",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "Abnormal foot morphology",
- "skeleton of lower jaw",
- "anatomical structure development",
- "bodily fluid phenotype",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "cerebrospinal fluid morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "absent bone of pectoral complex in the limb",
- "digestive system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "tracheobronchial tree",
- "number of anatomical enitites of type skeletal element phenotype",
- "decreased size of the material anatomical entity",
- "absent multicellular anatomical structure in the ear",
- "jaw skeleton morphology phenotype",
- "negative regulation of cellular process",
- "Abnormal oral morphology",
- "vertebra phenotype",
- "aplastic anatomical entity",
- "bone of dorsum",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "Abnormal jaw morphology",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "organism substance phenotype",
- "absent long bone",
- "irregular bone phenotype",
- "anatomical entity hypoplasia",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "limb endochondral element",
+ "organ component layer",
+ "penis hypoplasia",
+ "autopodial skeleton",
"digit 1 phenotype",
- "membrane bone phenotype",
- "absent limb long bone",
- "dentary phenotype",
- "neck bone",
+ "multi organ part structure",
"Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "decreased social inhibition",
- "hindbrain morphology phenotype",
- "cranial skeletal system phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "external soft tissue zone",
- "digestive system element phenotype",
- "pes morphology phenotype",
- "zeugopod phenotype",
- "postcranial axial skeleton phenotype",
- "digestive system morphology phenotype",
- "nervous system",
- "jaw region",
- "Abnormal neck morphology",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Aplasia/Hypoplasia of facial bones",
- "mandible phenotype",
- "organ phenotype",
- "absent subdivision of tube in the female reproductive system",
- "skeleton",
- "internal genitalia phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "absent abdominal segment element in the renal system",
- "subdivision of skeleton phenotype",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "facial bone phenotype",
- "Abnormality of chromosome stability",
- "occurrent",
- "anatomical collection phenotype",
- "respiratory tract",
- "skeleton phenotype",
- "absent bone of pectoral complex in the forelimb",
- "paired limb/fin skeleton",
- "absent manual digit",
- "external nose phenotype",
- "Abnormal digit morphology",
- "negative regulation of metabolic process phenotype",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "autopodial skeleton",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "Abnormal sacrum morphology",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "main body axis",
- "Abnormal cerebrospinal fluid morphology",
- "external nose morphology phenotype",
- "aplasia or hypoplasia of fused sacrum",
- "Absent thumb",
- "anatomical entity morphology in the manus phenotype",
- "digestive system physiology phenotype",
- "male reproductive organ",
- "manual digit 1 morphology phenotype",
- "Abnormal nasal bridge morphology",
- "immaterial anatomical entity",
- "visual system phenotype",
- "multicellular organism phenotype",
- "eyeball of camera-type eye phenotype",
- "Macule",
- "eyeball of camera-type eye",
- "eye phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "material entity",
- "material anatomical entity atresia",
- "vision/eye phenotype",
- "bone marrow cell",
- "simple eye phenotype",
- "blood cell phenotype",
- "orbital region phenotype",
- "absent anatomical entity in the renal system",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "Aplasia/hypoplasia involving forearm bones",
- "Aplasia/Hypoplasia of the sacrum",
- "decreased size of the ectoderm-derived structure",
- "cerebellum hypoplasia",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
"camera-type eye",
- "Morphological central nervous system abnormality",
- "visual system",
- "ectoderm-derived structure atresia",
- "nose morphology phenotype",
- "decreased size of the sense organ",
- "size of anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent external ear in the head",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "Aplasia/Hypoplasia of the external ear",
- "regulation of metabolic process phenotype",
- "anatomical structure",
- "absent anatomical structure in the head",
- "number of anatomical enitites of type lateral structure phenotype",
- "Anotia",
- "aplasia or hypoplasia of skull",
- "increased size of the anatomical line",
- "absent anatomical entity in the ear",
- "absent subdivision of head in the head",
+ "fused sacrum phenotype",
"trunk bone",
- "subdivision of organism along appendicular axis phenotype",
- "absent anatomical entity in the head",
- "decreased qualitatively multicellular organismal process",
+ "manual digit 1 plus metapodial segment",
+ "lateral structure",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormality of the cervical spine",
+ "increased pigmentation",
+ "Abnormal skeletal morphology",
+ "external ear hypoplasia",
+ "axon ensheathment in central nervous system phenotype",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "manual digit",
+ "arm",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "anatomical wall",
+ "absent bone of free limb or fin",
+ "bone of appendage girdle complex",
+ "regulation of biological process",
+ "decreased multicellular organism development",
+ "Abnormality of the anus",
+ "digit 1 plus metapodial segment",
+ "cerebrospinal fluid morphology phenotype",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "paired limb/fin skeleton",
+ "esophagus phenotype",
+ "limb phenotype",
+ "skeleton phenotype",
+ "paired limb/fin segment",
+ "erythrocyte morphology phenotype",
+ "Abnormal bone marrow cell morphology",
+ "acropodium region",
+ "absent anatomical structure in the forelimb",
+ "multi-limb segment region",
+ "Abnormal social behavior",
"ventricle of nervous system",
- "absent lateral structure in the head",
- "Neurodevelopmental abnormality",
- "anatomical wall phenotype",
- "absent external ear",
- "increased biological_process",
- "absent subdivision of head",
- "absent organism subdivision in the head",
- "aplasia or hypoplasia of ear",
- "bony pelvis",
- "axial skeleton plus cranial skeleton phenotype",
- "vertebral column phenotype",
- "trunk region element phenotype",
- "fused sacrum",
- "pelvic region element",
- "abdominal segment bone",
- "sacral region of vertebral column",
- "abdominal segment of trunk",
- "sacral region of vertebral column phenotype",
- "aplasia or hypoplasia of vertebral column",
- "fused sacrum hypoplasia",
- "bone of dorsum phenotype",
- "viscus",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "dorsum",
- "trunk",
- "fused sacrum phenotype",
- "Hypoplastic sacrum",
- "abdominal segment element phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "subdivision of trunk phenotype",
+ "anatomical point",
+ "subdivision of digestive tract phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "cell development",
+ "manus phenotype",
+ "continuant",
+ "hindlimb",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent organism subdivision",
+ "digit 1",
+ "Hyperactivity",
+ "absent organ in the multicellular organism",
+ "mesoderm-derived structure",
+ "Aplasia/Hypoplasia of the thumb",
+ "cell",
+ "Abnormality of the mouth",
+ "limb",
+ "limb long bone morphology phenotype",
+ "absent subdivision of oviduct in the female reproductive system",
+ "increased size of the material anatomical entity",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "endochondral bone",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "bone of dorsum",
+ "sensation behavior",
+ "digit morphology phenotype",
"Aplasia/Hypoplasia involving the vertebral column",
- "limb bone phenotype",
- "thoracic segment organ phenotype",
- "dorsal region element",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
+ "location of anatomical entity phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "limb endochondral element phenotype",
+ "ensheathment of neurons",
+ "increased length of the non-material anatomical boundary",
+ "fused sacrum hypoplasia",
+ "forelimb zeugopod morphology phenotype",
"trunk bone phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Abnormality of the vertebral column",
- "trunk phenotype",
- "midface morphology phenotype",
- "absent anatomical structure in the female reproductive system",
- "reproductive structure",
- "uterus",
- "increased pigmentation",
- "Abnormal cell morphology",
- "internal genitalia",
- "bone of craniocervical region phenotype",
- "autopod region",
- "aplasia or hypoplasia of uterus",
- "Chromosome breakage",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "absent uterus in the female reproductive system",
- "Abnormal internal genitalia",
- "reproductive organ phenotype",
- "Aplasia/hypoplasia of the uterus",
- "manus",
- "absent reproductive structure",
- "increased biological_process in skin of body",
- "genitourinary system phenotype",
- "increased number of brain ventricle/choroid plexus",
- "facial skeleton",
- "Aplasia of the uterus",
- "neurogenesis",
- "regulation of cellular biosynthetic process phenotype",
- "cerebellum phenotype",
- "oviduct phenotype",
- "female reproductive system",
- "absent multicellular anatomical structure in the female reproductive system",
- "number of anatomical enitites of type organ part phenotype",
- "simple eye",
- "number of anatomical enitites of type reproductive structure phenotype",
"penis",
- "absent digit",
- "female reproductive organ morphology phenotype",
- "ventricle of nervous system phenotype",
- "subdivision of oviduct",
- "increased number of organ component layer",
- "absent organ part",
- "number of anatomical enitites of type subdivision of tube phenotype",
- "internal female genitalia",
- "absent anatomical structure in the reproductive system",
- "jaw skeleton",
- "penis phenotype",
- "Abnormality of the genitourinary system",
- "Abnormality of the uterus",
+ "increased size of the anatomical line",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Abnormality of globe location",
"shape nose tip",
- "absent multicellular anatomical structure in the reproductive system",
- "reproductive structure phenotype",
- "paired limb/fin",
- "Hypoplastic male external genitalia",
- "regulation of gene expression phenotype",
- "absent organ part in the female reproductive system",
- "absent subdivision of oviduct",
- "system process",
- "brain ventricle/choroid plexus phenotype",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
+ "Abnormal nasal bridge morphology",
+ "erythroid lineage cell",
"increased length of the anatomical entity",
- "absent reproductive structure in the reproductive system",
- "absent mesoderm-derived structure",
- "absent subdivision of tube",
- "genitourinary system",
- "appendage girdle complex",
- "uterus phenotype",
- "Global developmental delay",
- "absent subdivision of oviduct in the female reproductive system",
- "pelvic region of trunk",
- "absent material anatomical entity in the female reproductive system",
- "Reduced attention regulation",
- "reproductive system morphology phenotype",
- "manual digit",
- "vertebral element phenotype",
- "increased width of ectoderm-derived structure",
- "Abnormality of the genital system",
- "cervical region",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "pectoral complex",
- "cervical region of vertebral column",
- "decreased qualitatively developmental process",
- "Aplasia/Hypoplasia of the cerebellum",
- "Abnormal tracheal morphology",
- "neck morphology phenotype",
- "decreased length of anatomical entity",
- "subdivision of head phenotype",
- "Hydrocephalus",
- "decreased length of multicellular anatomical structure",
- "Depressed nasal tip",
- "aplasia or hypoplasia of cerebellum",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "neck bone phenotype",
- "Abnormality of the cervical spine",
- "absent forelimb bone in the limb",
- "decreased length of anatomical structure",
- "decreased length of organism subdivision",
- "Short neck",
- "Neurodevelopmental delay",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "obsolete cell",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "negative regulation of macromolecule metabolic process",
- "regulation of cellular biosynthetic process",
- "behavior phenotype",
- "Abnormal hindbrain morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "programmed DNA elimination by chromosome breakage",
- "segmental subdivision of nervous system",
- "Abnormal eyelid morphology",
- "aplasia or hypoplasia of external ear",
- "anatomical point",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "biological regulation",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "negative regulation of gene expression",
- "cell phenotype",
- "pectoral appendage phenotype",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "male organism",
- "Abnormal cellular phenotype",
- "palpebral fissure phenotype",
- "upper urinary tract phenotype",
- "cognitive behavior",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of metabolic process",
- "brain",
- "cell",
- "absent endochondral element in the limb",
- "Abnormal esophagus morphology",
- "anatomical point phenotype",
- "thoracic cavity element phenotype",
- "oral cavity phenotype",
- "increased number of ectoderm-derived structure",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "esophagus phenotype",
- "Esophageal atresia",
+ "Cafe-au-lait spot",
+ "anatomical line",
+ "decreased qualitatively anatomical structure development",
"immaterial anatomical entity phenotype",
- "subdivision of vertebral column phenotype",
- "trunk region element atresia",
- "axon ensheathment phenotype",
- "irregular bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "esophagus atresia",
- "closing of the trunk region element",
+ "non-material anatomical boundary phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the eye",
+ "increased length of the immaterial anatomical entity",
+ "subdivision of oviduct phenotype",
+ "ectoderm-derived structure phenotype",
+ "regulation of biosynthetic process",
+ "immaterial anatomical entity",
+ "Abnormal digestive system morphology",
+ "Abnormal CNS myelination",
+ "increased length of the anatomical line",
"viscus phenotype",
- "absent lateral structure",
- "esophagus morphology phenotype",
- "olfactory organ",
- "cellular process phenotype",
- "number of anatomical enitites of type kidney phenotype",
- "absent trunk region element",
- "closing of the organ",
- "alimentary part of gastrointestinal system atresia",
- "absent skeletal element",
- "thoracic segment organ atresia",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
+ "regional part of nervous system",
+ "Abnormal midface morphology",
+ "location of eyeball of camera-type eye phenotype",
+ "anatomical line phenotype",
+ "organism subdivision phenotype",
+ "Hypoplastic facial bones",
"respiratory system phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "Recurrent maladaptive behavior",
- "absent material anatomical entity in the ear",
- "closing of the anatomical system",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of tube atresia",
- "closing of the multicellular anatomical structure",
"absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "alimentary part of gastrointestinal system phenotype",
- "alimentary part of gastrointestinal system",
- "Abnormality of digestive system physiology",
- "Abdominal symptom",
- "Feeding difficulties",
- "central nervous system phenotype",
- "multi-tissue structure",
- "central nervous system",
- "Cerebellar hypoplasia",
- "lateral structure",
- "erythrocyte morphology phenotype",
- "metencephalon",
- "organism",
- "structure with developmental contribution from neural crest",
- "primary subdivision of cranial skeletal system",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "respiratory system morphology phenotype",
- "segment of autopod",
- "decreased size of the organism subdivision",
- "Metazoa",
- "segmental subdivision of hindbrain phenotype",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "Abnormal nervous system morphology",
+ "delayed biological_process",
+ "multicellular organism morphology phenotype",
+ "absent anatomical structure in the head",
+ "axon ensheathment",
+ "delayed myelination",
+ "glial cell differentiation",
+ "myelination",
+ "absent subdivision of tube in the female reproductive system",
+ "myelination phenotype",
"root",
- "digit",
- "nose phenotype",
- "axial skeleton plus cranial skeleton",
- "external nose",
- "upper digestive tract",
+ "delayed central nervous system myelination",
+ "multicellular organism development",
+ "Hypoplastic male external genitalia",
+ "ensheathment of neurons phenotype",
+ "appendage",
+ "central nervous system myelination phenotype",
+ "skeletal system phenotype",
+ "Abnormal mandible morphology",
+ "anatomical structure development",
+ "oligodendrocyte development",
+ "absent anatomical entity",
+ "decreased size of the eyeball of camera-type eye",
+ "central nervous system myelination",
+ "bone of lower jaw phenotype",
+ "Abnormal myelination",
+ "cellular process",
+ "long bone morphology phenotype",
+ "delayed cellular process",
+ "dermal skeleton",
+ "phenotypic effect",
+ "female reproductive system",
+ "cellular process phenotype",
+ "limb segment",
"external genitalia phenotype",
- "Opisthokonta",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "forelimb long bone",
- "female organism",
- "brain morphology phenotype",
- "Abnormal external nose morphology",
- "cellular organisms",
- "hindbrain phenotype",
- "Webbed neck",
- "eye",
- "Abnormal brain morphology",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "Abnormal nasal morphology",
- "nose",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "pigmentation",
- "increased size of the anatomical structure",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "respiratory airway",
- "increased size of the anatomical entity",
- "absent anatomical structure in the skeletal system",
- "increased width of material anatomical entity",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "nasal bridge morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "pigmentation phenotype",
- "delayed axon ensheathment",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "Renal hypoplasia",
- "snout",
- "snout morphology phenotype",
- "internal female genitalia phenotype",
- "anatomical line",
- "Abnormal limb bone morphology",
- "olfactory organ phenotype",
- "incomplete closing of the anatomical entity",
- "secondary palate morphology phenotype",
- "kidney",
- "hindlimb",
- "incomplete closing of the anatomical structure",
+ "cellular developmental process",
+ "limb long bone phenotype",
+ "facial skeleton morphology phenotype",
+ "nervous system development",
+ "anatomical structure phenotype",
+ "decreased anatomical structure development",
+ "Talipes equinovarus",
+ "leg",
+ "Abnormality of the lower limb",
+ "Hypermelanotic macule",
+ "lower limb segment",
+ "Abnormal palate morphology",
+ "Abnormality of digestive system physiology",
+ "Abnormal cell morphology",
+ "leg phenotype",
+ "subdivision of skeletal system phenotype",
+ "incomplete closing of the secondary palate",
+ "integument",
+ "pelvic appendage",
+ "pes morphology phenotype",
+ "internal genitalia",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the uterus",
+ "Hyperpigmentation of the skin",
+ "Positional foot deformity",
+ "absent anatomical entity in the multicellular organism",
+ "Microphthalmia",
+ "pelvic complex",
+ "posterior region of body",
+ "hindlimb morphology phenotype",
+ "Decreased external ear position",
+ "Decreased anatomical entity position",
+ "cellular organisms",
+ "regulation of cellular metabolic process",
+ "arm phenotype",
+ "location of ear phenotype",
+ "skeleton of pectoral complex",
+ "specifically dependent continuant",
+ "Abnormal location of ears",
+ "Low-set ears",
+ "irregular bone",
+ "Abnormal jaw morphology",
+ "digestive system morphology phenotype",
+ "absent bone of pectoral complex in the limb",
+ "intramembranous bone",
+ "Abnormality of the genital system",
+ "mouth",
+ "Aplasia/Hypoplasia of the mandible",
+ "primary subdivision of cranial skeletal system",
+ "absent forelimb endochondral element in the limb",
+ "embryo development rate phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "absent radius endochondral element",
+ "aplasia or hypoplasia of mandible",
+ "facial bone hypoplasia",
+ "Abnormality of the genitourinary system",
+ "bone of craniocervical region phenotype",
+ "digestive system element phenotype",
+ "Abnormal eye morphology",
+ "head bone morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "neural crest-derived structure phenotype",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "absent subdivision of head in the head",
+ "dentary phenotype",
+ "metencephalon morphology phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "mandible",
+ "increased number of brain ventricle",
+ "facial bone",
+ "immune system",
+ "facial skeleton",
+ "absent abdomen element in the renal system",
+ "jaw skeleton",
+ "dermal bone",
+ "absent radius bone",
+ "cranial skeletal system",
+ "Wide nasal bridge",
+ "postcranial axial skeletal system",
+ "absent multicellular anatomical structure in the ear",
+ "primary subdivision of skull",
+ "thoracic segment organ phenotype",
+ "Micrognathia",
+ "bone element hypoplasia in face",
"flattened anatomical entity",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "oral cavity",
"neural crest-derived structure",
- "incomplete closing of the secondary palate",
- "appendicular skeleton",
- "skeletal system",
- "organ component layer phenotype",
- "roof of mouth",
- "biological regulation phenotype",
- "digestive system",
- "anatomical space phenotype",
- "delayed biological_process",
- "anatomical space",
- "incomplete closing of the multi-tissue structure",
- "incomplete closing of the neural crest-derived structure",
- "anatomical cavity",
- "manual digitopodium region",
- "incomplete closing of the roof of mouth",
+ "dermal skeletal element phenotype",
+ "nasal bridge morphology phenotype",
+ "absent kidney in the renal system",
+ "subdivision of tube phenotype",
+ "Abnormality of the uterus",
+ "membrane bone phenotype",
+ "Abnormal oral morphology",
+ "absent arm bone in the forelimb",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
"Delayed CNS myelination",
- "neck phenotype",
- "opening of the anatomical entity",
- "incomplete closing of the ectoderm-derived structure",
- "Micropenis",
- "penis hypoplasia",
- "eyelid morphology phenotype",
- "External genital hypoplasia",
- "Abnormality of the male genitalia",
- "Hypoplasia of penis",
- "Abnormal respiratory system morphology",
- "compound organ phenotype",
- "respiratory tube",
- "increased number of brain ventricle",
- "lower respiratory tract",
- "proximo-distal subdivision of respiratory tract",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "Abnormality of the respiratory system",
- "endoderm-derived structure",
- "proximo-distal subdivision of respiratory tract phenotype",
+ "oral cavity",
+ "organ component layer phenotype",
+ "behavior process phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "dentary",
+ "lower jaw region",
+ "Abnormal metencephalon morphology",
+ "absent skeletal element",
+ "Aplasia involving bones of the extremities",
+ "Aplasia involving forearm bones",
+ "absent forelimb bone in the forelimb",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "zeugopodial skeleton",
+ "forelimb long bone",
+ "arm bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "limb long bone",
+ "mandible hypoplasia",
+ "Aplasia involving bones of the upper limbs",
+ "shape anatomical entity",
+ "absent forelimb zeugopod bone in the forelimb",
+ "forelimb endochondral element",
+ "increased width of material anatomical entity",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "entire sense organ system",
+ "decreased rate of behavior process",
+ "absent bone of pectoral complex",
+ "absent subdivision of oviduct",
+ "regulation of cellular biosynthetic process",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "delayed axon ensheathment",
+ "number of anatomical enitites of type organ phenotype",
+ "closing of the organ part",
+ "absent forelimb endochondral element in the forelimb",
+ "closing of the thoracic segment organ",
+ "absent endochondral bone in the limb",
+ "autopod region",
+ "absent anatomical structure in the ear",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
"tissue",
- "absent organ in the renal system",
- "Abnormality of blood and blood-forming tissues",
- "Abnormality of the immune system",
- "closing of the anatomical conduit",
- "immune system",
- "bone cell",
- "hemolymphoid system",
- "regulation of cellular process",
- "hematopoietic system",
- "increased number of multicellular anatomical structure",
- "increased number of organ component layer in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "brain ventricle/choroid plexus",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "transudate",
- "increased number of material anatomical entity",
- "organ system subdivision",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "upper limb segment",
- "increased number of anatomical structure",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "brain ventricle phenotype",
- "erythroid lineage cell morphology phenotype",
- "cerebrospinal fluid phenotype",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "pelvic appendage phenotype",
+ "absent anatomical structure in the skeletal system",
+ "trunk region element atresia",
+ "absent bone of free limb or fin in the forelimb",
+ "radius bone phenotype",
+ "forelimb long bone phenotype",
+ "number of anatomical enitites of type bone element phenotype",
+ "aplasia or hypoplasia of fused sacrum",
+ "absent limb long bone in the forelimb",
+ "absent forelimb bone in the limb",
+ "Abnormal morphology of the radius",
+ "absent bone element",
+ "absent forelimb bone",
+ "absent endochondral element in the forelimb",
+ "decreased size of the organ",
+ "absent organ",
+ "absent bone of appendage girdle complex in the limb",
+ "hindbrain",
+ "decreased size of the material anatomical entity",
+ "Absent forearm bone",
+ "oviduct",
+ "forelimb bone phenotype",
+ "absent limb bone",
+ "Aplasia/Hypoplasia of the radius",
+ "absent organ in the limb",
+ "behavior phenotype",
+ "segmental subdivision of hindbrain",
+ "absent endochondral element",
+ "absent organ in the forelimb",
+ "arm bone phenotype",
+ "Abnormal hindbrain morphology",
+ "delayed growth",
+ "negative regulation of macromolecule metabolic process",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "thoracic cavity element atresia",
+ "skin of body",
+ "absent endochondral bone",
+ "bone of pectoral complex phenotype",
"absent radius bone in the forelimb",
- "bodily fluid",
- "metencephalon morphology phenotype",
- "increased number of organ part",
- "organ part",
- "external soft tissue zone phenotype",
- "Abnormal nasal tip morphology",
- "nose tip",
- "non-material anatomical boundary phenotype",
- "increased length of the anatomical line",
- "increased length of the immaterial anatomical entity",
- "ocular adnexa",
- "anatomical line between pupils",
- "location of eyeball of camera-type eye phenotype",
- "non-material anatomical boundary",
- "negative regulation of biological process phenotype",
- "anatomical line phenotype",
- "Abnormality of globe location",
- "increased size of the immaterial anatomical entity",
- "regulation of cellular metabolic process",
- "external male genitalia hypoplasia",
+ "Disinhibition",
+ "Abnormal forearm bone morphology",
+ "absent long bone",
+ "absent bone of pectoral complex in the forelimb",
+ "digestive system element",
+ "Orofacial cleft",
+ "absent arm bone",
+ "reproductive organ",
+ "multi-limb segment region phenotype",
+ "olfactory organ phenotype",
+ "absent bone element in the limb",
+ "absent material anatomical entity in the ear",
+ "Aplasia/hypoplasia involving forearm bones",
+ "long bone phenotype",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "absent forelimb zeugopod bone",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "Growth delay",
+ "radius bone",
+ "growth phenotype",
+ "embryo development phenotype",
+ "Abnormal tracheobronchial morphology",
+ "embryo development",
+ "decreased qualitatively developmental process",
+ "Intrauterine growth retardation",
+ "multicellular organism development phenotype",
+ "developmental process phenotype",
+ "anatomical structure development phenotype",
+ "decreased embryo development",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "uterus",
+ "size of eyeball of camera-type eye phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "absent uterus in the female reproductive system",
+ "absent material anatomical entity in the head",
+ "absent lateral structure",
+ "abdominal segment bone phenotype",
+ "increased size of the anatomical entity",
+ "absent lateral structure in the head",
+ "limb skeleton subdivision",
+ "absent anatomical entity in the ear",
+ "Anotia",
+ "aplasia or hypoplasia of manual digit 1",
+ "absent subdivision of head",
+ "male reproductive system",
+ "absent anatomical entity in the head",
+ "incomplete closing of the multi-tissue structure",
+ "female reproductive system morphology phenotype",
+ "internal female genitalia",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "closing of the material anatomical entity",
+ "upper limb segment",
+ "biological_process phenotype",
+ "biological_process",
+ "bone marrow cell",
+ "absent limb endochondral element in the limb",
+ "absent anatomical structure in the female reproductive system",
+ "forelimb",
+ "Aplasia of the uterus",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "hematopoietic system phenotype",
+ "reproductive structure phenotype",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the female reproductive system",
+ "system development",
+ "absent reproductive structure",
+ "appendage phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
"blood cell",
- "absent endochondral bone",
+ "aplasia or hypoplasia of uterus",
+ "absent material anatomical entity in the reproductive system",
+ "limb bone",
+ "subdivision of oviduct",
+ "subdivision of tube atresia",
+ "absent limb long bone",
+ "internal female genitalia morphology phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "Abnormal myeloid cell morphology",
+ "absent bone of free limb or fin in the limb",
+ "segmental subdivision of nervous system",
+ "genitourinary system",
+ "absent reproductive structure in the reproductive system",
+ "reproductive structure",
+ "female organism",
+ "absent anatomical entity in the female reproductive system",
+ "multicellular organismal process",
+ "absent reproductive structure in the female reproductive system",
+ "Abnormal morphology of female internal genitalia",
+ "location of external ear phenotype",
+ "decreased qualitatively behavior",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Neurodevelopmental abnormality",
+ "Neurodevelopmental delay",
+ "closing of the organ",
+ "closing of the trunk region element",
+ "closing of the anatomical system",
+ "closing of the anatomical entity",
+ "mandible morphology phenotype",
+ "esophagus atresia",
+ "organ part atresia",
+ "anatomical structure atresia",
+ "anatomical entity atresia",
+ "process",
+ "gliogenesis",
+ "Gastrointestinal atresia",
+ "subdivision of digestive tract atresia",
+ "Esophageal atresia",
+ "anatomical system atresia",
+ "thoracic cavity element phenotype",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "material anatomical entity atresia",
+ "digestive system physiology phenotype",
+ "anatomical point phenotype",
+ "Feeding difficulties",
+ "Microtia",
+ "regional part of brain phenotype",
+ "Eumetazoa",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "cerebellum hypoplasia",
+ "brain ventricle",
+ "regional part of nervous system phenotype",
+ "Abnormal nervous system morphology",
+ "cerebellum",
+ "external genitalia",
+ "regional part of brain",
+ "midface morphology phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "head bone",
+ "nasal bridge phenotype",
+ "bone cell",
+ "nose morphology phenotype",
+ "vestibulo-auditory system",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "olfactory organ",
+ "increased width of anatomical entity",
+ "nose",
+ "Abnormality of the palpebral fissures",
+ "decreased developmental process",
+ "snout",
+ "decreased qualitatively embryo development",
+ "increased width of ectoderm-derived structure",
+ "anatomical collection",
+ "Macule",
+ "regulation of macromolecule metabolic process",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digestive system element atresia",
+ "increased width of nasal bridge",
+ "increased width of anatomical structure",
+ "nose phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "negative regulation of biological process",
+ "incomplete closing of the neural crest-derived structure",
+ "oral cavity morphology phenotype",
+ "Craniofacial cleft",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the anatomical structure",
+ "Hydrocephalus",
+ "incomplete closing of the multicellular anatomical structure",
+ "penis phenotype",
+ "absent external ear in the head",
+ "Abnormal male external genitalia morphology",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "external male genitalia",
+ "respiratory system morphology phenotype",
+ "intromittent organ",
+ "Abnormal foot morphology",
+ "External genital hypoplasia",
+ "male organism",
+ "social behavior",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "external male genitalia phenotype",
+ "Cerebellar hypoplasia",
+ "Hypoplasia of penis",
+ "Abnormal external genitalia",
+ "multicellular anatomical structure",
+ "hematopoietic system",
+ "anus atresia",
+ "bone marrow",
+ "mouth phenotype",
+ "digit phenotype",
+ "immune system phenotype",
+ "Bone marrow hypocellularity",
+ "Abnormal external nose morphology",
+ "flat nose tip",
+ "curvature anatomical entity",
+ "external nose",
+ "nose tip morphology phenotype",
+ "oligodendrocyte differentiation",
+ "Abnormal nasal tip morphology",
+ "anatomical entity physiology phenotype",
"erythrocyte",
- "system development",
- "absent limb endochondral element in the forelimb",
+ "external nose morphology phenotype",
+ "manual digit phenotype",
+ "oxygen accumulating cell",
+ "limb segment phenotype",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
"hematopoietic cell",
- "integumental system phenotype",
- "Anal atresia",
- "increased qualitatively biological_process",
- "Abnormality of skin pigmentation",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "paired limb/fin skeleton phenotype",
- "Orofacial cleft",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin"
+ "Abnormality of the integument",
+ "integumental system",
+ "musculature",
+ "Localized skin lesion",
+ "pigmentation",
+ "ectoderm-derived structure",
+ "skin of body phenotype"
],
"has_phenotype_count": 36,
"highlight": null,
@@ -4683,8 +4517,13 @@
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0000104",
"HP:0001875",
+ "HP:0009777",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0000104",
"HP:0001017",
"HP:0001876",
"HP:0000028",
@@ -4692,23 +4531,18 @@
"HP:0001873",
"HP:0009778",
"HP:0001896",
- "HP:0009777",
"HP:0000568",
"HP:0001518",
"HP:0001263",
"HP:0003221",
- "HP:0000252",
- "HP:0001249",
"HP:0009943",
"HP:0000978",
"HP:0001627",
"HP:0000953",
"HP:0000957",
"HP:0001903",
- "HP:0000815",
"HP:0001909",
"HP:0000081",
- "HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
@@ -4717,32 +4551,32 @@
"HP:0000085"
],
"has_phenotype_label": [
- "Renal agenesis",
"Neutropenia",
- "Anemic pallor",
- "Pancytopenia",
- "Cryptorchidism",
+ "Absent thumb",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Renal agenesis",
+ "Anemic pallor",
+ "Pancytopenia",
+ "Cryptorchidism",
"Absent radius",
"Thrombocytopenia",
"Short thumb",
"Reticulocytopenia",
- "Absent thumb",
"Microphthalmia",
"Small for gestational age",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Intellectual disability",
"Complete duplication of thumb phalanx",
"Bruising susceptibility",
"Abnormal heart morphology",
"Hyperpigmentation of the skin",
"Cafe-au-lait spot",
"Anemia",
- "Hypergonadotropic hypogonadism",
"Leukemia",
"Duplicated collecting system",
- "Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
@@ -4752,12808 +4586,12267 @@
],
"has_phenotype_closure": [
"UPHENO:0041226",
+ "UPHENO:0041465",
"UPHENO:0041629",
- "UPHENO:0080300",
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
+ "UPHENO:0051124",
+ "GO:0046483",
"UPHENO:0050116",
- "UPHENO:0049671",
+ "UPHENO:0049586",
+ "UPHENO:0049964",
"GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
+ "GO:0006950",
+ "GO:0051716",
+ "HP:0003213",
+ "UPHENO:0050121",
+ "GO:0051319",
+ "GO:0007049",
+ "HP:0003214",
"UPHENO:0052160",
"UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
+ "GO:0007605",
+ "GO:0009987",
+ "HP:0000365",
+ "UPHENO:0005596",
"UBERON:0002105",
- "UPHENO:0005517",
+ "UPHENO:0041075",
+ "GO:0007600",
+ "UPHENO:0052159",
+ "UPHENO:0052970",
+ "UPHENO:0050625",
+ "UPHENO:0049699",
+ "UPHENO:0049703",
+ "GO:0006807",
"HP:0031704",
- "GO:0007605",
+ "UPHENO:0049989",
+ "UPHENO:0005512",
+ "GO:0050954",
+ "UPHENO:0005518",
"UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
"HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
+ "HP:0000708",
+ "NBO:0000444",
+ "UPHENO:0002219",
+ "NBO:0000338",
+ "UPHENO:0079828",
+ "GO:0007610",
+ "UPHENO:0002211",
+ "HP:0000496",
+ "HP:0011018",
+ "UBERON:0000015",
+ "UBERON:0010222",
+ "BFO:0000141",
+ "HP:0000486",
"UPHENO:0000543",
"HP:0001510",
"HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000081",
- "HP:0004742",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
"UPHENO:0075787",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "HP:0100542",
- "UPHENO:0053612",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001903",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0050008",
+ "UPHENO:0054970",
+ "GO:0043473",
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- "has_phenotype_closure_label": [
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "primary metabolic process",
- "cellular response to stimulus",
- "response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
- "interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
- "sensory perception",
- "Abnormality of the ear",
- "decreased sensory perception",
- "cell cycle",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical line",
- "ectoderm-derived structure physiology phenotype",
- "eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Abnormal localization of kidney",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
- "Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
- "Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "glandular system",
- "Cafe-au-lait spot",
- "Hypermelanotic macule",
- "ear phenotype",
- "increased pigmentation",
- "Hyperpigmentation of the skin",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "heart phenotype",
- "circulatory organ phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
- "Abnormal heart morphology",
- "anatomical cluster",
- "Irregular hyperpigmentation",
- "circulatory system",
- "Abnormal bleeding",
- "Generalized abnormality of skin",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
- "Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
- "manual digit 1 phalanx",
- "phalanx of manus",
- "phalanx",
- "macromolecule metabolic process",
- "Intellectual disability",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "Neurodevelopmental abnormality",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
- "multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
- "camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
- "Abnormality of the eye",
- "eye",
- "face",
- "orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
- "Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
- "eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "location of anatomical entity phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "All",
- "Cryptorchidism",
- "reproductive organ phenotype",
- "kidney",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "face phenotype",
- "localised male reproductive organ",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "enucleated reticulocyte morphology phenotype",
- "aplasia or hypoplasia of manual digit",
- "absent radius endochondral element in the forelimb",
- "localised reproductive organ",
- "number of leukocyte phenotype",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "Abnormal myeloid cell morphology",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "appendage girdle complex",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "male reproductive organ phenotype",
- "reproductive structure",
- "erythroid lineage cell morphology phenotype",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "skin of body morphology phenotype",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "cell",
- "head morphology phenotype",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "Neutropenia",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "Pallor",
- "reproductive structure phenotype",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "number of anatomical enitites of type neutrophil phenotype",
- "tissue",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "hematopoietic system",
- "bone cell",
- "number of anatomical enitites of type kidney phenotype",
- "eukaryotic cell",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "nucleate cell",
- "bone marrow",
- "granulocyte",
- "cell phenotype",
- "decreased number of material anatomical entity",
- "Abnormal skeletal morphology",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormality of the male genitalia",
- "musculature of body",
- "absent multicellular anatomical structure in the limb",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "trunk",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "blood cell",
- "Abnormality of the immune system",
- "absent compound organ in the renal system",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "superficial fascia",
- "immune system",
- "Abnormal male external genitalia morphology",
- "disconnected anatomical group",
- "decreased number of neutrophil",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "anatomical entity phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "growth",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "autopod region morphology phenotype",
- "localised anatomical structure",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "localised anatomical entity",
- "absent lateral structure in the renal system",
- "Abnormal limb bone morphology",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal cellular immune system morphology",
- "Abnormality of the vasculature",
- "gonad",
- "bone element",
- "pectoral appendage",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "testis",
- "long bone phenotype",
- "lateral structure",
- "multicellular organism",
- "trunk region element phenotype",
- "absent multicellular anatomical structure in the renal system",
- "serotonin secreting cell",
- "arm bone phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "absent forelimb long bone",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "renal system",
- "non-connected functional system",
- "gonad phenotype",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "motile cell",
- "decreased size of the digit",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "multicellular anatomical structure",
- "craniocervical region",
- "decreased length of organism subdivision",
- "number of anatomical enitites of type trunk region element phenotype",
- "organ phenotype",
- "skeleton",
- "genitourinary system phenotype",
- "Abnormal testis morphology",
- "postcranial axial skeleton",
- "organ system subdivision",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "organ",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "decreased number of anatomical entity",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "anterior region of body",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "abdominal segment of trunk",
- "anatomical structure",
- "Growth abnormality",
- "skeletal system phenotype",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
- "organism subdivision phenotype",
- "cell cycle phenotype",
- "platelet",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "absent lateral structure",
- "skull",
- "Short thumb",
- "Abnormality of the hand",
- "primary circulatory organ",
- "head phenotype",
- "localised organ",
- "anatomical entity",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "skin of body phenotype",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent material anatomical entity in the renal system",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "absent kidney in the renal system",
- "number of anatomical enitites of type endochondral bone phenotype",
- "specifically dependent continuant",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "quality",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "number of anatomical enitites of type anatomical structure phenotype",
- "face morphology phenotype",
- "subdivision of trunk",
- "endocrine system phenotype",
- "reproductive system",
- "absent forelimb long bone in the forelimb",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "musculature of body phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "skeletal system",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "number of anatomical enitites of type abdomen element phenotype",
- "Abnormal granulocyte count",
- "absent kidney",
- "forelimb morphology phenotype",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "Thrombocytopenia",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
- "Short finger",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "main body axis",
- "vision/eye phenotype",
- "bone marrow cell",
- "Abnormality of the kidney",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "localised gonad",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "abdominal segment element phenotype",
- "subdivision of trunk phenotype",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "absent abdomen element in the renal system",
- "Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "cavitated compound organ",
- "number of anatomical enitites of type lateral structure phenotype",
- "nervous system process phenotype",
- "neutrophil phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "upper limb segment phenotype",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "leukocyte",
- "material entity",
- "Abnormal granulocyte morphology",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "absent bone of free limb or fin",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent bone element in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "anatomical collection",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "trunk phenotype",
- "digit 1 digitopodial skeleton",
- "hemolymphoid system",
- "absent cavitated compound organ in the renal system",
- "lateral structure phenotype",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "limb segment",
- "localised multicellular anatomical structure",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent bone of pectoral complex in the limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "Abnormal finger phalanx morphology",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "absent bone of pectoral complex in the forelimb",
- "heart",
- "limb bone phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "decreased biological_process",
- "Absent radius",
- "skeletal element phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeleton",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "oxygen accumulating cell",
- "absent bone of appendage girdle complex",
- "Decreased head circumference",
- "material anatomical entity",
- "absent bone of free limb or fin in the limb",
- "myeloid leukocyte",
- "autopodial extension phenotype",
- "regulation of biological process",
- "manual digit",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "forelimb",
- "digit 1 or 5",
- "decreased number of leukocyte",
- "long bone",
- "absent abdominal segment element",
- "endochondral bone",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "absent organ",
- "absent bone of appendage girdle complex in the limb",
- "absent forelimb zeugopod bone",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "absent radius bone in the forelimb",
- "external genitalia",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "eye movement",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "pectoral appendage skeleton phenotype",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "absent compound organ",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "anucleate cell",
- "absent mesoderm-derived structure in the multicellular organism",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1"
- ],
- "has_phenotype_count": 32,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "full_name": null,
- "deprecated": null,
- "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
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- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": 0,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0019391",
- "category": "biolink:Disease",
- "name": "Fanconi anemia",
- "full_name": null,
- "deprecated": null,
- "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.",
- "xref": [
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- "GARD:6425",
- "ICD9:284.09",
- "MEDGEN:41967",
- "MESH:D005199",
- "MedDRA:10055206",
- "NANDO:1200303",
- "NANDO:1200891",
- "NANDO:2200652",
- "NCIT:C62505",
- "NORD:1132",
- "OMIMPS:227650",
- "Orphanet:84",
- "SCTID:30575002",
- "UMLS:C0015625"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "Fanconi anemia",
- "Fanconi pancytopenia",
- "Fanconi panmyelopathy",
- "Fanconi's anaemia",
- "Fanconi's anemia",
- "Panmyelopathy, Fanconi",
- "pancytopenia, congenital",
- "primary erythroid hypoplasia"
- ],
- "uri": null,
- "iri": null,
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- "Clubbing of toes",
- "Abnormal preputium morphology",
- "Abnormal localization of kidney",
- "Arteriovenous malformation",
- "Abnormal morphology of ulna",
- "Abnormal nervous system morphology",
- "Decreased fertility in males",
- "Absent testis",
- "Aplasia/Hypoplasia of the uvula",
- "Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
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- "Cranial nerve paralysis",
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- "Abnormal carotid artery morphology",
- "Reduced bone mineral density",
- "Clinodactyly of the 5th finger",
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- "Myelodysplasia",
- "Hip dislocation",
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- "Tracheoesophageal fistula",
- "Spina bifida",
- "Aganglionic megacolon",
- "Meckel diverticulum",
- "Ventriculomegaly",
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- "Frontal bossing",
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- "Patent ductus arteriosus",
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- "Atrial septal defect",
- "Oligohydramnios",
- "Umbilical hernia",
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- "Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
- "Bicornuate uterus",
- "Nystagmus",
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- "Microphthalmia",
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- "Abnormality of vision",
- "Abnormal eyelid morphology",
- "Strabismus",
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- "Choanal atresia",
- "Hearing impairment",
- "Hearing abnormality",
- "Micrognathia",
- "Sloping forehead",
- "Facial asymmetry",
- "Hypertelorism",
- "Epicanthus",
- "Dolichocephaly",
- "Hydrocephalus",
- "High palate",
- "Cleft palate",
- "Hypogonadism",
- "Abnormality of the uterus",
- "Renal insufficiency",
- "Hydroureter",
- "Hypospadias",
- "Abnormal testis morphology",
- "Cryptorchidism",
- "Azoospermia",
- "Recurrent urinary tract infections",
- "Short palpebral fissure",
- "Abnormal renal morphology",
- "Almond-shaped palpebral fissure",
- "Neoplasm",
- "Scoliosis",
- "Abnormal cardiac septum morphology",
- "Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
- "Abnormality of the urinary system",
- "Irregular hyperpigmentation",
- "Aplasia/Hypoplasia of the radius",
- "Pyridoxine-responsive sideroblastic anemia",
- "Short stature",
- "Abnormality of chromosome stability",
- "Abnormality of the upper limb",
- "Anemia",
- "Leukopenia",
- "Thrombocytopenia",
- "Abnormality of blood and blood-forming tissues",
- "Abnormal thumb morphology",
- "Hypopigmented skin patches",
- "Abnormality of skin pigmentation"
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- "UPHENO:0002941",
- "HP:0002011",
- "UBERON:5102389",
- "HP:0003312",
- "UBERON:0000479",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0050606",
- "UPHENO:0075873",
- "UPHENO:0002820",
- "UBERON:0002090",
- "HP:0000453",
- "UBERON:0003113",
- "HP:0002827",
- "HP:0045005",
- "UPHENO:0001252",
- "UBERON:0004145",
- "UPHENO:0010850",
- "UPHENO:0003001",
- "UBERON:0002050",
- "UPHENO:0056150",
- "HP:0001347",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0075655",
- "UBERON:0016491",
- "GO:0016331",
- "HP:0032101",
- "GO:0048731",
- "UPHENO:0004418",
- "GO:0035295",
- "UBERON:0000161",
- "GO:0048598",
- "GO:0048729",
- "UBERON:0000061",
- "GO:0035239",
- "HP:0008438",
- "UPHENO:0063595",
- "UPHENO:0033562",
- "HP:0030680",
- "UBERON:0001049",
- "UBERON:0002412",
- "UPHENO:0002992",
- "UPHENO:0041037",
- "GO:0007399",
- "GO:0021915",
- "UPHENO:0063519",
- "HP:0011844",
- "HP:0000925",
- "UPHENO:0005336",
- "UPHENO:0033604",
- "GO:0072175",
- "UPHENO:0087232",
- "UBERON:0001808",
- "UPHENO:0026146",
- "UPHENO:0086864",
- "UPHENO:0002785",
- "UPHENO:0005046",
- "UPHENO:0002246",
- "UPHENO:0076773",
- "UPHENO:0087123",
- "UPHENO:0002442",
- "UPHENO:0088171",
- "UPHENO:0046540",
- "HP:0002250",
- "UPHENO:0041033",
- "UBERON:0004907",
- "HP:0002242",
- "HP:0002813",
- "HP:0025028",
- "UBERON:0005445",
- "HP:0410015",
- "UPHENO:0000996",
- "UPHENO:0088183",
- "HP:0002119",
- "UBERON:0016525",
- "UPHENO:0001360",
- "UBERON:0004086",
- "HP:0002118",
- "UPHENO:0004802",
- "UBERON:0001710",
- "UPHENO:0001340",
- "UPHENO:0001004",
- "UPHENO:0001440",
- "UBERON:0002103",
- "UBERON:0003947",
- "UBERON:0005281",
- "UPHENO:0018390",
- "UBERON:0000955",
- "HP:0002538",
- "UPHENO:0088047",
- "GO:0007601",
- "UPHENO:0001025",
- "UPHENO:0001072",
- "UPHENO:0074229",
- "UPHENO:0072359",
- "UPHENO:0075175",
- "UPHENO:0074237",
- "UPHENO:0074228",
- "HP:0000492",
- "HP:0000953",
- "UPHENO:0002812",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UPHENO:0074230",
- "UPHENO:0053580",
- "UBERON:0000014",
- "UPHENO:0033609",
- "UBERON:0004176",
- "UPHENO:0063599",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0063581",
- "HP:0004378",
- "UPHENO:0063565",
- "UPHENO:0063596",
- "UBERON:0002199",
- "UBERON:0008785",
- "UPHENO:0002761",
- "UPHENO:0084465",
- "HP:0005927",
- "UPHENO:0002985",
- "UPHENO:0014351",
- "UBERON:0007118",
- "HP:0001638",
- "UBERON:0000203",
- "UBERON:0001890",
- "UBERON:0016548",
- "UPHENO:0001001",
- "UBERON:0003457",
- "UPHENO:0002813",
- "UPHENO:0002713",
- "HP:0040064",
- "UPHENO:0003004",
- "HP:0100760",
- "UPHENO:0081594",
- "HP:0430000",
- "UPHENO:0004621",
- "UPHENO:0084715",
- "HP:0002060",
- "HP:0001873",
- "UPHENO:0004149",
- "UBERON:0003528",
- "HP:0100547",
- "HP:0005522",
- "GO:0050954",
- "UPHENO:0004459",
- "UPHENO:0003098",
- "UPHENO:0002371",
- "UPHENO:0063594",
- "UBERON:0010323",
- "UBERON:0011159",
- "UPHENO:0041667",
- "HP:0045060",
- "UPHENO:0078125",
- "UPHENO:0046405",
- "UBERON:0016526",
- "UPHENO:0090191",
- "UBERON:0022303",
- "UPHENO:0087530",
- "UPHENO:0078730",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0002772",
- "UBERON:0000045",
- "UPHENO:0082905",
- "HP:0007364",
- "UBERON:0001870",
- "UPHENO:0005994",
- "UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
- "UBERON:0012180",
- "RO:0002577",
- "UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
- "UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
- "UBERON:0007842",
- "UBERON:0007914"
- ],
- "has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
- "decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
- "Abnormal platelet morphology",
- "biogenic amine secreting cell",
- "Thrombocytopenia",
- "Hypopigmented skin patches",
- "serotonin secreting cell",
- "decreased number of material anatomical entity in the multicellular organism",
- "decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
- "nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
- "Abnormal immune system morphology",
- "number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
- "Abnormal leukocyte morphology",
- "homeostatic process phenotype",
- "metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "decreased size of the multicellular organism",
- "Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
- "blood cell phenotype",
- "bone cell",
- "Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
- "erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
- "Abnormal morphology of the radius",
- "radius endochondral element",
- "radius bone phenotype",
- "Abnormality of skull size",
- "cognition",
- "Scoliosis",
- "Almond-shaped palpebral fissure",
- "size of palpebral fissure phenotype",
- "decreased size of the palpebral fissure",
- "Recurrent infections",
- "immune system phenotype",
- "Recurrent urinary tract infections",
- "Abnormality of the immune system",
- "immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
- "absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
- "absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
- "absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
- "male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
- "localised anatomical structure",
- "Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
- "male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
- "urethra phenotype",
- "Abnormality of thrombocytes",
- "urethral opening",
- "Abnormal ureter morphology",
- "Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
- "Abnormality of the urinary system physiology",
- "abdominal segment element physiology phenotype",
- "kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
- "incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
- "increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
- "Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
- "skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
- "zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
- "asymmetry of anatomical entity phenotype",
- "Facial asymmetry",
- "asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
- "forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
- "lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
- "dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
- "anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
- "Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
- "sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
- "posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
- "naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Abnormal conjugate eye movement",
- "Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
- "visual perception",
- "Abnormality of vision",
- "decreased qualitatively system process",
- "visual perception phenotype",
- "decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
- "size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
- "eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
- "Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
- "bicornuate uterus",
- "female reproductive organ",
- "uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
- "manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
- "manual digit bone",
- "manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
- "phalanx of manus",
- "manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
- "neuromuscular process",
- "voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
- "response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
- "decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
- "anatomical structure development phenotype",
- "decreased qualitatively biological_process",
- "Growth delay",
- "Intrauterine growth retardation",
- "Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
- "herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
- "herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
- "organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
- "late embryo",
- "bone of jaw phenotype",
- "Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
- "cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
- "Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
- "increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
- "increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
- "size of cardiac ventricle phenotype",
- "septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
- "mesoderm-derived structure physiology phenotype",
- "layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
- "semi-lunar valve",
- "outflow tract of ventricle",
- "semi-lunar valve morphology phenotype",
- "heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
- "aortic system",
- "aorta phenotype",
- "mandible",
- "aorta morphology phenotype",
- "aorta",
- "great vessel of heart",
- "flat anatomical entity",
- "shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
- "fused anatomical entity and pedal digit",
- "anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
- "growth",
- "anatomical entity mass phenotype",
- "Weight loss",
- "developmental process rate phenotype",
- "Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
- "neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
- "heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
- "anus",
- "membrane bone",
- "zeugopodial skeleton",
- "innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
- "hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
- "anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
- "eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
- "Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
- "nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
- "skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
- "vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
- "individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
- "mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
- "shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
- "bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
- "peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
- "Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
- "upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
- "simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
- "neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
- "Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
- "pes bone",
- "neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere"
- ],
- "has_phenotype_count": 106,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0013248",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group O",
- "full_name": null,
- "deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
- "xref": [
- "DOID:0111096",
- "GARD:15656",
- "MEDGEN:462003",
- "OMIM:613390",
- "UMLS:C3150653"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "FANCO",
- "Fanconi Anemia, complementation group type O",
- "Fanconi anaemia caused by mutation in RAD51C",
- "Fanconi anaemia caused by mutation in Rad51C",
- "Fanconi anaemia complementation group type O",
- "Fanconi anemia caused by mutation in RAD51C",
- "Fanconi anemia caused by mutation in Rad51C",
- "Fanconi anemia complementation group type O",
- "Fanconi anemia, complementation group O",
- "RAD51C Fanconi anaemia",
- "RAD51C Fanconi anemia",
- "Rad51C Fanconi anaemia",
- "Rad51C Fanconi anemia"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0000126",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0009623",
- "HP:0009777",
- "HP:0001627",
- "HP:0000107",
- "HP:0040012",
- "HP:0003241",
- "HP:0004322",
- "HP:0001245",
- "HP:0002023",
- "HP:0003774",
- "HP:0025023"
- ],
- "has_phenotype_label": [
- "Hydronephrosis",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Proximal placement of thumb",
- "Absent thumb",
- "Abnormal heart morphology",
- "Renal cyst",
- "Chromosome breakage",
- "External genital hypoplasia",
- "Short stature",
- "Small thenar eminence",
- "Anal atresia",
- "Stage 5 chronic kidney disease",
- "Rectal atresia"
- ],
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0012361",
- "UPHENO:0084771",
- "NCBITaxon:2759",
- "HP:0025023",
- "HP:0002242",
- "UPHENO:0074330",
- "UPHENO:0004518",
- "UBERON:0004907",
- "UBERON:0006866",
- "UBERON:0001052",
- "UPHENO:0063563",
- "HP:0002034",
- "HP:0011024",
- "UPHENO:0002988",
- "UPHENO:0063632",
- "HP:0002250",
- "UBERON:0001353",
- "NCBITaxon:131567",
- "UPHENO:0063629",
- "UPHENO:0002902",
- "UPHENO:0002994",
- "UPHENO:0074335",
- "UBERON:0000481",
- "UPHENO:0076735",
- "UPHENO:0076773",
- "NCBITaxon:33154",
- "UPHENO:0063575",
- "UPHENO:0005046",
- "NCBITaxon:1",
- "HP:0011100",
- "UPHENO:0063615",
- "UPHENO:0002426",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002386",
- "HP:0002589",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
- "HP:0000083",
- "UBERON:0000059",
- "UPHENO:0002442",
- "HP:0012622",
- "UPHENO:0002267",
- "HP:0012211",
- "HP:0025033",
- "UPHENO:0002839",
- "UPHENO:0063594",
- "UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "HP:0002023",
- "UPHENO:0063599",
- "UPHENO:0002548",
- "UPHENO:0074230",
- "UBERON:0001555",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0074245",
- "HP:0025031",
- "UPHENO:0002812",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0002655",
- "HP:0001245",
- "HP:0003011",
- "UBERON:0007269",
- "UBERON:0034929",
- "HP:0001446",
- "UPHENO:0003057",
- "HP:0009127",
- "UPHENO:0081341",
- "UPHENO:0003047",
- "HP:0001421",
- "UPHENO:0002647",
- "UBERON:0014793",
- "UBERON:0007271",
- "HP:0002818",
- "UPHENO:0002944",
- "UPHENO:0002832",
- "UPHENO:0046483",
- "GO:0031324",
- "UPHENO:0004900",
- "UPHENO:0008548",
- "HP:0009115",
- "UBERON:0002204",
- "UBERON:0000465",
- "UPHENO:0027017",
- "HP:0011314",
- "UPHENO:0005214",
- "HP:0003774",
- "UBERON:0001008",
- "HP:0000077",
- "UBERON:0001245",
- "HP:0045060",
- "UPHENO:0012308",
- "HP:0006501",
- "UPHENO:0068898",
- "UPHENO:0001360",
- "UBERON:0019231",
- "UPHENO:0046538",
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- ],
- "has_phenotype_closure_label": [
- "Intestinal atresia",
- "Anorectal anomaly",
- "alimentary part of gastrointestinal system",
- "cellular organisms",
- "Rectal atresia",
- "closing of the subdivision of digestive tract",
- "Eumetazoa",
- "closing of the anatomical system",
- "Abnormality of the gastrointestinal tract",
- "intestine phenotype",
- "anal region",
- "alimentary part of gastrointestinal system atresia",
- "Metazoa",
- "internal anal region",
- "organism",
- "digestive system element phenotype",
- "rectum phenotype",
- "Abnormal large intestine morphology",
- "large intestine",
- "Opisthokonta",
- "Abnormal gastrointestinal tract morphology",
- "subdivision of digestive tract phenotype",
- "lower digestive tract",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "terminal part of digestive tract",
- "rectum",
- "multi-tissue structure",
- "rectum morphology phenotype",
- "alimentary part of gastrointestinal system phenotype",
- "intestine morphology phenotype",
- "organ physiology phenotype",
- "material anatomical entity physiology phenotype",
- "abdominal segment element physiology phenotype",
- "trunk region element physiology phenotype",
- "kidney physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "lateral structure physiology phenotype",
- "renal system physiology phenotype",
- "compound organ physiology phenotype",
- "tube",
- "digestive system",
- "closing of the multicellular anatomical structure",
- "digestive system morphology phenotype",
- "Abnormality of the digestive system",
- "ectoderm-derived structure",
- "Gastrointestinal atresia",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus atresia",
- "anus morphology phenotype",
- "Abnormality of the anus",
- "ectoderm-derived structure atresia",
- "closing of the anatomical conduit",
- "orifice atresia",
- "material anatomical entity atresia",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "tube phenotype",
- "muscle structure",
- "pectoral appendage musculature phenotype",
- "Abnormality of the musculature",
- "Abnormality of the musculature of the limbs",
- "thenar eminence hypoplasia",
- "Small thenar eminence",
- "Abnormal skeletal muscle morphology",
- "Abnormality of the musculature of the hand",
- "thenar eminence",
- "muscle structure phenotype",
- "intestine atresia",
- "skeleton phenotype",
- "absent anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "obsolete cell",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "decreased length of skeletal element",
- "long bone phenotype",
- "testis",
- "forelimb skeleton phenotype",
- "palmar part of manus",
- "Abnormal anus morphology",
- "musculature of pectoral complex phenotype",
- "zeugopod phenotype",
- "absent anatomical structure",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "anatomical system atresia",
- "biological regulation",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "long bone morphology phenotype",
- "zeugopod",
- "musculoskeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "zeugopodial skeleton",
- "decreased size of the multicellular anatomical structure",
- "radius endochondral element",
- "long bone",
- "limb",
- "manual digit phenotype",
- "subdivision of skeleton",
- "limb long bone",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "Abnormality of chromosome stability",
- "radius bone morphology phenotype",
- "paired limb/fin phenotype",
- "Deviation of the hand or of fingers of the hand",
- "musculature of manus phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "musculature of upper limb phenotype",
- "large intestine morphology phenotype",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "Limb undergrowth",
- "pectoral appendage skeleton",
- "digestive tract",
- "skeleton of limb",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "regulation of macromolecule metabolic process",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "decreased size of the bone of pectoral complex",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "limb phenotype",
- "Abnormal skeletal morphology",
- "Chronic kidney disease",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb segment phenotype",
- "upper limb segment",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "arm bone phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "dilated anatomical entity",
- "process",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "skeletal system morphology phenotype",
- "pectoral complex",
- "forelimb long bone phenotype",
- "Chromosome breakage",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical entity length phenotype",
- "male reproductive system",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "agenesis of anatomical entity",
- "thoracic cavity element phenotype",
- "musculoskeletal system",
- "limb segment",
- "arm",
- "skeleton of limb phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "endochondral bone",
- "decreased size of the bone element",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased length of bone of pectoral complex",
- "subdivision of tube",
- "Fetal pyelectasis",
- "decreased size of the material anatomical entity",
- "skeletal element",
- "appendage girdle complex",
- "paired limb/fin skeleton phenotype",
- "cavitated compound organ phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "organ part",
- "endochondral bone phenotype",
- "anatomical cluster",
- "Short long bone",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "increased size of the renal pelvis",
- "increased size of the anatomical conduit",
- "decreased size of the organism subdivision",
- "negative regulation of macromolecule metabolic process phenotype",
- "increased size of the anatomical entity",
- "Renal insufficiency",
- "bone element phenotype",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "increased size of the anatomical structure",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "cavitated compound organ",
- "abdomen element phenotype",
- "location of anatomical entity phenotype",
- "taxon specific phenotype",
- "forelimb zeugopod bone",
- "renal pelvis morphology phenotype",
- "forelimb phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "Abnormal testis morphology",
- "viscus",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "negative regulation of gene expression phenotype",
- "organism subdivision phenotype",
- "palmar part of manus phenotype",
- "material anatomical entity",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "body proper",
- "late embryo",
- "size of anatomical entity phenotype",
- "trunk",
- "organ part phenotype",
- "Fetal anomaly",
- "abdominal segment of trunk",
- "subdivision of organism along main body axis",
- "negative regulation of metabolic process",
- "material entity",
- "Abnormal renal pelvis morphology",
- "increased size of the material anatomical entity",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "anatomical structure",
- "Abnormality of the urinary system",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "localised male reproductive organ",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "decreased size of the arm bone",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "forelimb zeugopod bone hypoplasia",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "musculature of body phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "absent organism subdivision",
- "absent autopodial extension",
- "negative regulation of biosynthetic process",
- "decreased size of the forelimb bone",
- "main body axis",
- "organism subdivision",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "homeostatic process phenotype",
- "anatomical collection",
- "increased size of the organ part",
- "renal system phenotype",
- "anatomical cluster phenotype",
- "decreased size of the skeletal element",
- "multicellular organism",
- "lateral structure",
- "negative regulation of cellular process",
- "decreased size of the forelimb endochondral element",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "Abnormality of the upper limb",
- "Abnormal finger morphology",
- "genitourinary system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
- "increased size of the multicellular anatomical structure",
- "decreased length of manual digit 1 or 5",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "closing of the anatomical structure",
- "phenotypic effect",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Short finger",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "thoracic segment of trunk",
- "subdivision of tube phenotype",
- "All",
- "Abnormal morphology of the radius",
- "Abnormality of the kidney",
- "specifically dependent continuant",
- "digestive system element",
- "external genitalia",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "cardiovascular system",
- "size of multicellular organism phenotype",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Deviation of finger",
- "kidney",
- "reproductive organ phenotype",
- "organ phenotype",
- "skeleton",
- "abdominal segment element phenotype",
- "Abnormal fetal morphology",
- "Abnormal rectum morphology",
- "subdivision of trunk phenotype",
- "Abnormal cellular physiology",
- "organ",
- "Fetal ultrasound soft marker",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "Upper limb undergrowth",
- "quality",
- "embryo phenotype",
- "aplastic anatomical entity",
- "muscle organ",
- "genitourinary system",
- "trunk region element",
- "renal pelvis",
- "paired limb/fin segment phenotype",
- "compound organ",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "embryonic development/birth phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "reproductive system",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Dilatation of the renal pelvis",
- "renal pelvis phenotype",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "skeleton of pectoral complex",
- "decreased length of endochondral bone",
- "Abnormality of the urinary system physiology",
- "trunk phenotype",
- "dilated renal pelvis",
- "male organism phenotype",
- "appendicular skeleton",
- "Abnormal forearm bone morphology",
- "renal system",
- "decreased length of bone of free limb or fin",
- "manual digit 1 morphology phenotype",
- "Hypoplasia of the radius",
- "limb bone",
- "multicellular anatomical structure",
- "cavitated compound organ physiology phenotype",
- "decreased length of anatomical entity",
- "embryo",
- "decreased size of the limb bone",
- "gonad phenotype",
- "decreased size of the digit",
- "compound organ phenotype",
- "musculature of pectoral complex",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "palmar/plantar part of autopod",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "bone of pectoral complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "musculature of body",
- "musculature",
- "absent manual digit",
- "anatomical structure atresia",
- "skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "radius bone hypoplasia",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "heart phenotype",
- "bone of pectoral complex phenotype",
- "Abnormal fetal genitourinary system morphology",
- "musculature of upper limb",
- "anatomical collection phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "localised reproductive organ",
- "muscle organ morphology phenotype",
- "anatomical entity height phenotype",
- "reproductive structure",
- "closing of the organ part",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "decreased length of organism subdivision",
- "large intestine phenotype",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormal intestine morphology",
- "thenar eminence phenotype",
- "external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "Abnormality of the cardiovascular system",
- "deviation of manual digit",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "Abnormality of prenatal development or birth",
- "localised testis",
- "root",
- "external genitalia phenotype",
- "localised gonad",
- "localised anatomical entity",
- "regulation of macromolecule biosynthetic process phenotype",
- "Hydronephrosis",
- "Proximal placement of thumb",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "anus",
- "renal pelvis/ureter",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "Abnormal forearm morphology",
- "regulation of cellular process",
- "manus morphology phenotype",
- "digit phenotype",
- "Stage 5 chronic kidney disease",
- "anus phenotype",
- "autopodial extension phenotype",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "decreased length of material anatomical entity",
- "pectoral appendage musculature",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "organ system subdivision phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "segment of autopod",
- "viscus phenotype",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "decreased length of digit 1",
- "regulation of cellular biosynthetic process",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "decreased length of limb endochondral element",
- "deviation of anatomical entity",
- "rectum atresia",
- "manus",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "decreased size of the multicellular organism",
- "Short digit",
- "autopod region morphology phenotype",
- "Short thumb",
- "Abnormality of the hand",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "negative regulation of macromolecule metabolic process",
- "musculature of limb",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "Deviation of the thumb",
- "deviation of manual digit 1",
- "decreased size of the manual digit",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "absent digit",
- "absent anatomical structure in the limb",
- "structure with developmental contribution from neural crest",
- "Abnormal heart morphology",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased height of the multicellular organism",
- "circulatory organ",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "thoracic cavity element",
- "anatomical entity",
- "localised organ",
- "primary circulatory organ",
- "heart plus pericardium",
- "primary circulatory organ phenotype",
- "Absent thumb",
- "late embryo phenotype",
- "cardiovascular system morphology phenotype",
- "cardiovascular system phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "subdivision of tube atresia",
- "circulatory system",
- "Abnormality of the genital system",
- "thoracic segment organ phenotype",
- "biological_process",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "Renal cyst",
- "pathological phenotype observation",
- "negative regulation of cellular biosynthetic process",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "biological regulation phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "Abnormal renal morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "Short forearm",
- "testis phenotype",
- "growth phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "homeostatic process",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "negative regulation of gene expression",
- "cell phenotype",
- "regulation of cellular process phenotype",
- "Abnormal cellular phenotype",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "manual digit",
- "regulation of biological process",
- "negative regulation of biological process phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "External genital hypoplasia",
- "Growth delay",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "Aplasia/hypoplasia involving bones of the extremities",
- "forelimb zeugopod phenotype",
- "Abnormality of body height",
- "regulation of gene expression phenotype",
- "delayed biological_process",
- "excretory system",
- "paired limb/fin segment",
- "multicellular organism height phenotype",
- "musculature of limb phenotype",
- "radius bone",
- "Short stature",
- "Abnormality of the thenar eminence",
- "muscle organ phenotype",
- "external soft tissue zone",
- "Abnormality of the musculature of the upper limbs",
- "appendage musculature",
- "appendage musculature phenotype",
- "external soft tissue zone phenotype",
- "anatomical structure physiology phenotype",
- "musculature of manus"
- ],
- "has_phenotype_count": 15,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0013499",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group P",
- "full_name": null,
- "deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
- "xref": [
- "DOID:0111092",
- "GARD:15731",
- "MEDGEN:854020",
- "OMIM:613951",
- "UMLS:C3469542"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "FANCP",
- "Fanconi Anemia, complementation group type P",
- "Fanconi anaemia caused by mutation in SLX4",
- "Fanconi anaemia caused by mutation in Slx4",
- "Fanconi anaemia complementation group type P",
- "Fanconi anemia caused by mutation in SLX4",
- "Fanconi anemia caused by mutation in Slx4",
- "Fanconi anemia complementation group type P",
- "Fanconi anemia, complementation group P",
- "SLX4 Fanconi anaemia",
- "SLX4 Fanconi anemia",
- "Slx4 Fanconi anaemia",
- "Slx4 Fanconi anemia"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001876",
- "HP:0000347",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0001510",
- "HP:0000125",
- "HP:0009777",
- "HP:0000414",
- "HP:0000957",
- "HP:0001903",
- "HP:0012745",
- "HP:0000085",
- "HP:0000581",
- "HP:0003221",
- "HP:0002860",
- "HP:0004322",
- "HP:0000365",
- "HP:0000252",
- "HP:0001045"
- ],
- "has_phenotype_label": [
- "Pancytopenia",
- "Micrognathia",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Growth delay",
- "Pelvic kidney",
- "Absent thumb",
- "Bulbous nose",
- "Cafe-au-lait spot",
- "Anemia",
- "Short palpebral fissure",
- "Horseshoe kidney",
- "Blepharophimosis",
- "Chromosomal breakage induced by crosslinking agents",
- "Squamous cell carcinoma",
- "Short stature",
- "Hearing impairment",
- "Microcephaly",
- "Vitiligo"
- ],
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "NCBITaxon:2759",
- "HP:0012443",
- "HP:0007364",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "UPHENO:0076805",
- "HP:0002011",
- "UPHENO:0003001",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "UPHENO:0076791",
- "NCBITaxon:1",
- "UPHENO:0004621",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UPHENO:0050106",
- "UPHENO:0005437",
- "UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0002352",
- "UPHENO:0050620",
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- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002308",
- "UPHENO:0005433",
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- "UPHENO:0002903",
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- "UPHENO:0075997",
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- "HP:0012130",
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- "HP:0001034",
- "HP:0007400",
- "HP:0000957",
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- "HP:0011121",
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- "UPHENO:0074584",
- "GO:0065007",
- "HP:0000953",
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- "HP:0011355",
- "GO:0010605",
- "HP:0001000",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "HP:0040012",
- "UBERON:0002416",
- "UPHENO:0080377",
- "UPHENO:0002727",
- "UBERON:0001032",
- "UPHENO:0084715",
- "GO:0009889",
- "HP:0000366",
- "UBERON:0034929",
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- "UBERON:0000073",
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- "UPHENO:0050778",
- "UPHENO:0002907",
- "UPHENO:0002005",
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- "UPHENO:0005518",
- "UPHENO:0001279",
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- "HP:0000436",
- "UPHENO:0002715",
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- "UPHENO:0001912",
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- "UPHENO:0026643",
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- "HP:0009777",
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- "UPHENO:0081466",
- "UPHENO:0027017",
- "UPHENO:0025585",
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- "UPHENO:0026146",
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- "UPHENO:0009209",
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- "UBERON:0007842",
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- "UPHENO:0003069",
- "HP:0000347",
- "HP:0011927",
- "UPHENO:0087427",
- "UPHENO:0046531",
- "UBERON:5006048",
+ "HP:0000818",
+ "UPHENO:0008825",
+ "HP:0004325",
+ "UPHENO:0026504",
+ "UPHENO:0026600",
+ "UBERON:0011143",
+ "UPHENO:0026507",
"NCBITaxon:131567",
- "UPHENO:0053633",
+ "HP:0001017",
+ "UPHENO:0081423",
+ "UPHENO:0009011",
+ "HP:0011355",
+ "UPHENO:0011492",
+ "UPHENO:0082875",
+ "HP:0000104",
+ "UBERON:0010363",
+ "UPHENO:0008816",
+ "UPHENO:0085302",
+ "UPHENO:0008593",
+ "UPHENO:0026980",
+ "UPHENO:0025661",
+ "UPHENO:0009010",
+ "UPHENO:0025631",
+ "UPHENO:0008827",
+ "UBERON:0003133",
+ "UBERON:5006048",
+ "UPHENO:0026308",
+ "BFO:0000001",
"UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0081786",
- "UPHENO:0086595",
- "UPHENO:0046426",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080114",
- "UBERON:0001460",
- "UBERON:0019221",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "GO:0048523",
- "UPHENO:0053610",
- "UPHENO:0076803",
- "HP:0030791",
- "UPHENO:0003094",
- "HP:0010935",
+ "UBERON:0004710",
+ "UPHENO:0002782",
+ "UPHENO:0088162",
+ "UPHENO:0054315",
+ "UBERON:0002416",
+ "UBERON:0002102",
+ "UPHENO:0003811",
+ "UPHENO:0081581",
+ "RO:0002577",
+ "HP:0000951",
"UBERON:0001474",
+ "CL:0000329",
+ "CL:0000764",
+ "HP:0001574",
+ "HP:0011121",
+ "UPHENO:0025497",
+ "UBERON:0001690",
+ "UBERON:0015410",
+ "UPHENO:0002736",
+ "UPHENO:0086173",
+ "HP:0012145",
+ "UPHENO:0053647",
+ "UPHENO:0066902",
+ "UPHENO:0026098",
+ "HP:0011875",
+ "CL:0000458",
+ "UPHENO:0084761",
+ "HP:0001872",
+ "CL:0000457",
+ "HP:0004275",
+ "UBERON:0010314",
+ "UPHENO:0053633",
+ "HP:0001873",
"UPHENO:0002803",
- "HP:0000598",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UBERON:0000004",
- "UPHENO:0086635",
- "UPHENO:0075902",
- "UPHENO:0069328",
- "HP:0000125",
- "UPHENO:0002632",
- "UBERON:0000489"
+ "UBERON:0005172",
+ "UPHENO:0053572",
+ "UBERON:0000473",
+ "UPHENO:0076941",
+ "UPHENO:0002764",
+ "UPHENO:0002597",
+ "HP:0000811",
+ "UPHENO:0002682",
+ "HP:0000035",
+ "HP:0001876",
+ "HP:0000118",
+ "UPHENO:0024906",
+ "UPHENO:0002940",
+ "HP:0001871",
+ "UBERON:0000079",
+ "UPHENO:0053610",
+ "UBERON:0004176",
+ "HP:0005918",
+ "HP:0012243",
+ "HP:0000032",
+ "UPHENO:0079826",
+ "UBERON:0004122",
+ "UPHENO:0002595",
+ "HP:0009823",
+ "UPHENO:0010763",
+ "UPHENO:0025955",
+ "UPHENO:0025545",
+ "HP:0005927",
+ "UPHENO:0026486",
+ "UPHENO:0002738",
+ "UPHENO:0006894",
+ "UBERON:0001423",
+ "UPHENO:0009295",
+ "HP:0003953",
+ "UPHENO:0026023",
+ "UPHENO:0011563",
+ "UPHENO:0002750",
+ "UPHENO:0026317",
+ "UPHENO:0086956",
+ "UPHENO:0009341",
+ "UPHENO:0079872",
+ "UBERON:0004535",
+ "HP:0009142",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0013702",
+ "UPHENO:0080187",
+ "UPHENO:0069254",
+ "UBERON:0000949",
+ "UBERON:0003466",
+ "HP:0040070",
+ "GO:0006725",
+ "UPHENO:0087501",
+ "HP:0004377",
+ "UPHENO:0008709",
+ "UPHENO:0002594",
+ "UPHENO:0086019",
+ "UPHENO:0026312"
],
"has_phenotype_closure_label": [
- "Vitiligo",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "multi-tissue structure",
- "central nervous system phenotype",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "anatomical structure physiology phenotype",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "organ physiology phenotype",
- "ear physiology phenotype",
- "material anatomical entity physiology phenotype",
- "structure with developmental contribution from neural crest physiology phenotype",
- "Microcephaly",
- "sensory perception phenotype",
- "Hearing abnormality",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "decreased biological_process",
+ "3-D shape anatomical entity",
+ "shape anatomical entity",
+ "Horseshoe kidney",
+ "response to stress",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
+ "interphase",
+ "ear",
"sensory perception",
- "Abnormality of the ear",
- "nervous system process",
"decreased sensory perception",
+ "decreased nervous system process",
"decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
"decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
+ "anatomical line",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "eye physiology phenotype",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of eye movement",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
"anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
"size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
+ "Duplicated collecting system",
"Neoplasm",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "negative regulation of metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "negative regulation of gene expression phenotype",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "Abnormality of the nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Blepharophimosis",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "Abnormal size of the palpebral fissures",
- "decreased length of ectoderm-derived structure",
- "visual system",
- "camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "multi organ part structure phenotype",
- "eye",
- "orbital region",
- "palpebral fissure phenotype",
- "orbital region phenotype",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eye phenotype",
- "system process",
- "simple eye",
- "eyelid",
- "homeostatic process phenotype",
- "palpebral fissure",
- "decreased size of the orifice",
- "orifice phenotype",
- "multi organ part structure",
- "decreased size of the anatomical conduit",
- "visual system phenotype",
- "size of palpebral fissure phenotype",
- "Abnormality of the orbital region",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "Irregular hyperpigmentation",
- "eyelid morphology phenotype",
- "integumental system",
- "multicellular organismal process",
- "increased biological_process in skin of body",
+ "Leukemia",
+ "neoplasm phenotype",
"Localized skin lesion",
- "ear phenotype",
- "increased pigmentation",
"Cafe-au-lait spot",
- "increased biological_process",
- "pigmentation",
- "Hypermelanotic macule",
- "skin of body phenotype",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "increased size of the sense organ",
- "olfactory organ phenotype",
- "sense organ phenotype",
- "anatomical point phenotype",
- "shape kidney",
- "increased size of the nose",
- "sense organ",
- "entire sense organ system",
- "immaterial entity",
- "increased size of the multicellular anatomical structure",
- "programmed DNA elimination by chromosome breakage",
"Macule",
- "anatomical point",
- "increased size of the material anatomical entity",
- "pigmentation phenotype",
- "increased size of the ectoderm-derived structure",
- "Abnormal external nose morphology",
- "increased volume of nose",
- "olfactory organ",
- "Bulbous nose",
- "sensory system",
- "increased size of the anatomical entity",
- "Abnormal nasal tip morphology",
- "external soft tissue zone phenotype",
- "increased size of the anatomical structure",
- "ocular adnexa",
- "Abnormality of the nose",
- "increased size of the organism subdivision",
- "external nose",
- "nose",
- "external soft tissue zone",
- "Abnormal nasal morphology",
- "absent anatomical structure in the limb",
- "absent material anatomical entity in the limb",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "external nose phenotype",
- "absent manual digit",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "absent anatomical entity in the limb",
- "absent multicellular anatomical structure",
- "aplastic manual digit 1",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "absent material anatomical entity",
- "trunk phenotype",
- "renal system morphology phenotype",
- "trunk region element",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "paired limb/fin",
- "material anatomical entity phenotype",
- "cell",
- "limb bone phenotype",
- "skeleton phenotype",
- "Abnormality of the head",
- "Abnormality of chromosome stability",
- "facial bone phenotype",
- "decreased number of anatomical entity",
- "lateral structure phenotype",
- "skeleton of limb phenotype",
- "arm",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "tube",
- "autopodial extension phenotype",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "skeleton",
- "organ phenotype",
- "mandible phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "decreased size of the bone element",
- "endochondral bone",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "primary subdivision of skull phenotype",
- "nose morphology phenotype",
- "decreased length of endochondral bone",
- "neural crest-derived structure",
- "jaw region",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "digestive system morphology phenotype",
- "organ part phenotype",
- "digestive system element phenotype",
- "increased volume of anatomical entity",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "root",
- "nose phenotype",
- "external genitalia phenotype",
- "increased size of the organ",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "structure with developmental contribution from neural crest",
- "Abnormal forebrain morphology",
- "membrane bone phenotype",
- "Abnormal jaw morphology",
- "Abnormality of the palpebral fissures",
- "Abnormal digestive system morphology",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "nose tip morphology phenotype",
- "Abnormal skull morphology",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "limb morphology phenotype",
- "aplastic anatomical entity",
- "Abnormal oral morphology",
- "genitourinary system",
+ "biological_process rate phenotype",
+ "increased qualitatively biological_process",
+ "Hyperpigmentation of the skin",
+ "Abnormal heart morphology",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "Abnormality of the cardiovascular system",
+ "anatomical cluster phenotype",
+ "Generalized abnormality of skin",
+ "Vascular skin abnormality",
+ "vasculature",
+ "pigmentation",
+ "Abnormal finger phalanx morphology",
+ "Duplication of thumb phalanx",
+ "Complete duplication of thumb phalanx",
+ "manual digit 1 phalanx",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
+ "phalanx",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "pigmentation phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
"negative regulation of cellular process",
- "jaw skeleton morphology phenotype",
- "body proper",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "organism subdivision phenotype",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "forelimb morphology phenotype",
- "subdivision of tube",
- "face",
- "dermal skeleton phenotype",
"programmed DNA elimination by chromosome breakage phenotype",
- "dermal bone",
- "skeleton of lower jaw",
- "facial bone",
- "bone of lower jaw phenotype",
- "multicellular organism",
- "eukaryotic cell",
- "anatomical collection",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "head bone phenotype",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "subdivision of digestive tract phenotype",
- "craniofacial/craniocervical phenotype",
- "bone of craniocervical region",
- "intramembranous bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "regulation of gene expression",
- "subdivision of digestive tract",
- "dermal skeleton",
- "cell phenotype",
- "axial skeleton plus cranial skeleton",
- "localised reproductive organ",
- "bone element hypoplasia in face",
- "autopod region morphology phenotype",
- "Abnormality of the skin",
- "mouth morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "Pancytopenia",
- "hematopoietic system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "trunk",
- "Aplasia/Hypoplasia of the radius",
- "limb endochondral element",
- "specifically dependent continuant",
- "decreased size of the bone of pectoral complex",
- "Abnormality of the kidney",
- "bone marrow cell",
- "facial skeleton morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "external nose morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "skeleton of lower jaw phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "trunk region element phenotype",
- "cranial skeletal system",
- "Abnormal platelet morphology",
- "subdivision of skeletal system phenotype",
- "skeletal element",
- "Finger aplasia",
- "Abnormal facial skeleton morphology",
- "decreased size of the arm bone",
- "subdivision of head",
- "endochondral element phenotype",
- "Abnormality of the digestive system",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "nose tip phenotype",
- "multicellular anatomical structure",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "DNA metabolic process",
+ "negative regulation of macromolecule metabolic process",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
"Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "number of anatomical enitites of type anatomical entity phenotype",
- "endochondral element",
- "bone cell",
- "Abnormal bone marrow cell morphology",
- "Abnormal skeletal morphology",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "bone of jaw",
- "erythrocyte",
- "Abnormality of blood and blood-forming tissues",
- "lower jaw region",
- "anatomical structure",
- "Aplasia/Hypoplasia of the mandible",
- "anucleate cell",
- "dentary",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Neurodevelopmental delay",
+ "multicellular organism mass phenotype",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
+ "camera-type eye",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the eye",
+ "face phenotype",
+ "orbital region",
+ "sense organ",
+ "Microphthalmia",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
+ "eyeball of camera-type eye phenotype",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
+ "enucleated reticulocyte morphology phenotype",
+ "decreased length of digit 1",
"Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "organ",
- "Thrombocytopenia",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Abnormality of the genitourinary system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of autopodial extension",
+ "decreased size of the material anatomical entity",
+ "Short thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of manual digit",
+ "decreased length of anatomical structure",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "decreased size of the anatomical entity",
+ "decreased length of organism subdivision",
+ "negative regulation of metabolic process phenotype",
"Short finger",
- "Abnormal cell morphology",
- "anatomical entity phenotype",
- "decreased length of palpebral fissure",
- "jaw skeleton",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Abnormality of the mouth",
- "axial skeletal system",
- "facial skeleton phenotype",
- "Chromosome breakage",
- "Abnormal platelet count",
- "Abnormality of limb bone",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of radius bone",
+ "forelimb zeugopod bone phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "absent forelimb zeugopod bone",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
"Aplasia/hypoplasia involving forearm bones",
+ "absent bone element in the limb",
+ "forelimb zeugopod morphology phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent long bone",
+ "bone of pectoral complex morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "Abnormal forearm bone morphology",
+ "absent radius bone in the forelimb",
+ "bone of pectoral complex phenotype",
+ "limb long bone morphology phenotype",
+ "absent endochondral bone in the forelimb",
+ "absent limb endochondral element in the limb",
+ "delayed growth",
+ "arm bone phenotype",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "cellular process",
+ "long bone morphology phenotype",
+ "absent endochondral element",
+ "absent organ in the limb",
+ "Aplasia/Hypoplasia of the radius",
+ "vestibulo-auditory system",
+ "absent limb endochondral element",
+ "absent limb bone",
+ "forelimb bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "Absent forearm bone",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "absent bone element",
+ "Abnormal morphology of the radius",
+ "Reticulocytopenia",
+ "absent forelimb bone in the limb",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "forelimb long bone phenotype",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "radius bone phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "regulation of biosynthetic process phenotype",
+ "zeugopod",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nervous system physiology phenotype",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased functionality of the gonad",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "subdivision of head",
+ "absent mesoderm-derived structure in the forelimb",
"appendage girdle complex",
- "Abnormality of the skeletal system",
- "anatomical conduit phenotype",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "ear",
- "Abnormal erythrocyte morphology",
- "absent anatomical structure",
- "dermatocranium",
- "decreased length of digit 1",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "hematopoietic cell",
- "hemolymphoid system",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "musculature of body phenotype",
- "Anemia",
- "skeleton of limb",
- "digestive tract",
- "decreased length of orifice",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "decreased size of the forelimb bone",
- "main body axis",
- "mandible morphology phenotype",
- "integument phenotype",
- "musculature",
- "dermal skeletal element phenotype",
+ "digit phenotype",
+ "Renal hypoplasia/aplasia",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "kinesthetic behavior",
+ "Eumetazoa",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "Duplication of hand bones",
+ "nervous system process",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
"decreased size of the anatomical structure",
- "bone of lower jaw",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "Short forearm",
- "growth phenotype",
- "testis phenotype",
- "bone marrow",
- "nucleate cell",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal cellular immune system morphology",
- "forelimb zeugopod bone hypoplasia",
+ "organ",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "manual digit 1 phalanx endochondral element",
"tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "decreased sensory perception of mechanical stimulus",
- "bone of jaw phenotype",
- "taxon specific phenotype",
- "forelimb phenotype",
- "anatomical collection phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "Abnormal limb bone morphology",
- "organ part",
- "endochondral bone phenotype",
- "lateral structure",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "decreased number of material anatomical entity",
- "skin of body",
- "number of platelet phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased multicellular organismal process",
+ "root",
"localised testis",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "leukocyte",
- "material entity",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
+ "anterior region of body",
+ "cardiovascular system",
+ "absent skeletal element",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "multi-limb segment region",
+ "manual digit plus metapodial segment",
+ "digit 1 plus metapodial segment",
+ "anatomical entity length phenotype",
+ "digit",
+ "digit 1 or 5 phenotype",
+ "Abnormal digit morphology",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "limb",
+ "cell",
+ "absent anatomical entity in the renal system",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "absent skeletal element in the forelimb",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
+ "absent organism subdivision",
+ "Neurodevelopmental abnormality",
+ "manus phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "axial skeleton plus cranial skeleton",
"Abnormal hand morphology",
- "facial skeleton",
- "serotonin secreting cell",
- "arm bone phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "Short long bone",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "decreased qualitatively biological_process",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "oxygen accumulating cell",
- "bone of craniocervical region phenotype",
+ "Metazoa",
+ "absent mesoderm-derived structure",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "skeleton of manus",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "autopodial extension phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "G2 phase",
+ "nervous system phenotype",
+ "All",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "paired limb/fin segment phenotype",
+ "absent anatomical structure in the forelimb",
+ "acropodium region",
+ "Intellectual disability",
+ "bone marrow",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "arm phenotype",
"hematopoietic system",
- "mandible",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "simple eye phenotype",
- "blood cell phenotype",
- "decreased number of hematopoietic cell",
- "anatomical entity hypoplasia in face",
- "camera-type eye phenotype",
- "limb bone",
- "number of cell phenotype",
- "zeugopod phenotype",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "mouth",
+ "agenesis of anatomical entity",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "absent kidney",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "arm",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "manual digit",
+ "limb bone morphology phenotype",
+ "Abnormal skeletal morphology",
+ "anatomical system",
+ "absent anatomical structure in the limb",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "decreased size of the sense organ",
+ "anatomical collection phenotype",
+ "quality",
+ "decreased number of platelet",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased number of anatomical entity",
"Abnormal cellular phenotype",
- "subdivision of tube phenotype",
- "All",
- "appendicular skeleton",
- "male organism phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ system subdivision phenotype",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "agenesis of anatomical entity",
- "number of hematopoietic cell phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "sense organ physiology phenotype",
- "primary subdivision of skull",
- "tube phenotype",
- "decreased number of cell",
- "musculature of body",
- "skeletal system",
- "sensory perception of mechanical stimulus phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
+ "musculature",
+ "regional part of brain",
+ "Abnormality of limbs",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "skeletal element",
+ "taxon specific phenotype",
+ "granulocyte morphology phenotype",
+ "biological phase",
+ "autopod bone",
+ "mesoderm-derived structure",
+ "cell phenotype",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "anatomical entity morphology phenotype",
+ "Abnormal localization of kidney",
+ "size of skull phenotype",
"digit 1",
- "anatomical entity morphology in the pectoral complex phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "circulatory system",
+ "bone marrow cell",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "eye phenotype",
+ "Abnormal cellular immune system morphology",
"absent multicellular anatomical structure in the limb",
- "facial bone hypoplasia",
- "decreased size of the long bone",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
+ "endocrine system phenotype",
+ "multicellular organism morphology phenotype",
+ "skeletal system",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "skeleton",
+ "Abnormal bleeding",
"immune system phenotype",
- "head morphology phenotype",
- "Abnormality of the integument",
+ "decreased functionality of the organ",
+ "aplasia or hypoplasia of manual digit 1",
+ "reproductive system physiology phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "absent autopodial extension",
+ "hematopoietic system phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "skeleton of pectoral complex",
+ "eukaryotic cell",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "specifically dependent continuant",
+ "arm bone",
+ "Abnormal myeloid leukocyte morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "structure with developmental contribution from neural crest phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "immune system",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
+ "Prolonged G2 phase of cell cycle",
+ "pectoral appendage skeleton",
+ "Abnormality of skin pigmentation",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "organ physiology phenotype",
+ "Abnormal cell morphology",
"phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "craniocervical region phenotype",
- "aplasia or hypoplasia of mandible",
- "digit 1 or 5 phenotype",
- "dermatocranium phenotype",
+ "limb endochondral element",
+ "digit plus metapodial segment",
+ "skeletal system phenotype",
+ "absent anatomical entity",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "Complete duplication of phalanx of hand",
+ "limb bone",
+ "granulocyte",
+ "bone of appendage girdle complex phenotype",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "shape kidney",
+ "ectoderm-derived structure physiology phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "neutrophil phenotype",
+ "external male genitalia",
+ "aplasia or hypoplasia of skeleton",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
"localised multicellular anatomical structure",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "absent bone of appendage girdle complex in the limb",
+ "number of cell phenotype",
+ "number of leukocyte phenotype",
"platelet",
- "primary subdivision of cranial skeletal system",
- "regulation of biological process",
- "manual digit",
- "decreased length of arm bone",
- "long bone",
- "vestibulo-auditory system phenotype",
- "upper limb segment",
- "limb segment phenotype",
- "limb segment",
- "decreased height of the multicellular organism",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased length of mesoderm-derived structure",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
+ "manual digit phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "DNA metabolic process phenotype",
+ "multi-limb segment region phenotype",
+ "hemolymphoid system",
+ "decreased number of material anatomical entity",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "Abnormal nervous system physiology",
+ "Abnormality of the immune system",
"regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "decreased length of forelimb zeugopod bone",
- "Short palpebral fissure",
- "forelimb long bone phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "digit 1 or 5",
- "forelimb",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "forelimb zeugopod skeleton",
- "Squamous cell carcinoma",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "decreased length of anatomical entity",
- "decreased size of the skeletal element",
- "decreased length of multicellular anatomical structure",
- "neural crest-derived structure phenotype",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "immune system morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "decreased length of organ",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "bone of pectoral complex morphology phenotype",
- "mouth phenotype",
- "abdomen",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "pectoral appendage skeleton",
+ "anatomical structure mass phenotype",
+ "multicellular organism",
+ "decreased functionality of the anatomical structure",
+ "Thrombocytopenia",
+ "leukocyte",
+ "increased biological_process in skin of body",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cellular response to stimulus phenotype",
+ "absent bone element in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent anatomical entity in the forelimb",
+ "multicellular anatomical structure",
+ "primary metabolic process",
+ "Abnormality of the skin",
"forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "cell cycle",
"pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "negative regulation of cellular metabolic process",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased number of anatomical structure",
+ "decreased size of the manual digit",
+ "trunk region element",
+ "absent limb long bone in the forelimb",
+ "Anemic pallor",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
+ "Microcephaly",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "decreased size of the autopodial extension",
+ "absent bone of pectoral complex in the limb",
+ "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "absent trunk region element in the renal system",
+ "continuant",
"paired limb/fin phenotype",
- "radius bone morphology phenotype",
- "upper limb segment phenotype",
- "Neoplasm of the skin",
- "biological_process phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
- "intramembranous bone phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "decreased length of bone of pectoral complex",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Aplasia/Hypoplasia involving bones of the skull",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "musculature of body",
+ "camera-type eye phenotype",
+ "manus",
+ "bone of free limb or fin phenotype",
"anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "vestibulo-auditory system",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "size of anatomical entity phenotype",
- "quality",
- "Upper limb undergrowth",
- "absent anatomical entity",
- "acropodium region",
- "zeugopodial skeleton",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "decreased size of the endochondral bone",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "long bone phenotype",
- "decreased length of skeletal element",
- "testis",
- "male reproductive system",
- "anatomical entity length phenotype",
- "decreased size of the limb bone",
- "non-connected functional system",
- "gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "forelimb skeleton phenotype",
- "digestive system element",
- "pectoral appendage phenotype",
- "external genitalia",
- "limb bone morphology phenotype",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "bone of appendage girdle complex phenotype",
+ "integument phenotype",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "anatomical entity morphology in the manus phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "anatomical structure",
+ "localised trunk region element",
+ "absent lateral structure",
+ "Anemia",
+ "manus bone",
+ "Abnormality of the hand",
+ "radius bone",
+ "Subcutaneous hemorrhage",
+ "absent organism subdivision in the multicellular organism",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "limb segment",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "forelimb morphology phenotype",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "subdivision of organism along appendicular axis",
+ "absent anatomical structure in the multicellular organism",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
"autopodial skeleton",
- "Limb undergrowth",
- "decreased size of the forelimb endochondral element",
- "arm bone",
- "occurrent",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "decreased size of the palpebral fissure",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "radius bone hypoplasia",
- "decreased length of bone of free limb or fin",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
+ "multicellular organism phenotype",
+ "external genitalia phenotype",
+ "system process",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "reproductive structure physiology phenotype",
+ "behavior phenotype",
+ "forelimb zeugopod bone",
+ "nervous system",
"renal system",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "dermal bone phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "bone of pectoral complex phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "male reproductive system phenotype",
- "kidney phenotype",
- "reproductive structure",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "craniocervical region",
- "decreased length of organism subdivision",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormality of the genital system",
- "reproductive organ phenotype",
- "kidney",
- "genitourinary system phenotype",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "manual digit plus metapodial segment",
- "external male genitalia",
+ "endochondral bone phenotype",
+ "cognition",
+ "absent abdominal segment element",
"localised anatomical structure",
- "nose tip",
- "localised gonad",
- "head phenotype",
- "anatomical entity",
- "localised organ",
- "location of anatomical entity phenotype",
+ "simple eye phenotype",
+ "abdomen element",
+ "absent anatomical structure",
+ "localised kidney",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent cavitated compound organ",
+ "Abnormal renal morphology",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
"renal system phenotype",
- "localised anatomical entity",
- "localised material anatomical entity",
- "reproductive system",
- "face morphology phenotype",
- "dermal skeletal element",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "subdivision of organism along main body axis phenotype",
- "aplasia or hypoplasia of skull",
- "male organism",
- "membrane bone",
- "decreased length of autopodial extension",
- "decreased length of manual digit 1",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "renal collecting system",
+ "immune system morphology phenotype",
+ "Ectopic kidney",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
+ "absent endochondral bone",
+ "localised organ",
+ "body proper",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
+ "Short digit",
+ "absent multicellular anatomical structure in the renal system",
+ "eye",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
"manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "myeloid cell",
- "autopod region",
- "decreased qualitatively nervous system process",
- "segment of autopod",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "Hypoplastic facial bones",
- "manus",
+ "abdomen",
+ "compound organ phenotype",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormal granulocyte count",
+ "skin of body phenotype",
+ "Abnormality of the kidney",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "excretory system",
+ "subdivision of organism along main body axis",
+ "Abnormal conjugate eye movement",
+ "renal/urinary system phenotype",
+ "forelimb bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "upper urinary tract phenotype",
"integument",
- "skeleton of manus",
- "reproductive system phenotype",
- "autopodial extension",
- "Short digit",
- "Short thumb",
- "skull",
- "Abnormality of the hand",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
+ "platelet phenotype",
+ "biological_process",
+ "genitourinary system phenotype",
"decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
"manual digitopodium region",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormality of the male genitalia",
"upper urinary tract",
- "decreased length of digit 1 or 5",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "head bone",
- "Ectopic kidney",
- "decreased length of anatomical conduit",
"Growth delay",
- "biological_process",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "growth",
+ "kidney",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "organic substance metabolic process",
+ "heart",
+ "Abnormality of the head",
+ "limb long bone phenotype",
+ "multi-tissue structure",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "absent arm bone",
+ "reproductive organ",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "Abnormality of body weight",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased size of the multicellular organism",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "craniocervical region",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "subdivision of organism along main body axis phenotype",
"regulation of gene expression phenotype",
- "increased size of the olfactory organ",
- "delayed biological_process",
- "delayed growth",
+ "system",
+ "brain morphology phenotype",
+ "forelimb skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "decreased length of manual digit 1 or 5",
+ "decreased functionality of the multicellular anatomical structure",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
+ "erythroid lineage cell",
+ "telencephalon",
+ "head phenotype",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Abnormal brain morphology",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "Abnormality of the genital system",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "myeloid leukocyte phenotype",
+ "forebrain",
+ "gonad physiology phenotype",
+ "nucleate cell",
+ "reproductive structure phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "limb endochondral element phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "absent arm bone in the forelimb",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "absent lateral structure in the renal system",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "gonad phenotype",
+ "immaterial entity",
+ "Abnormality of chromosome stability",
+ "anatomical entity dysfunction in independent continuant",
+ "Neutropenia",
+ "reproductive structure",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "neutrophil",
+ "absent abdomen element",
+ "decreased number of anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "number of anatomical enitites of type organ phenotype",
+ "Duplication of phalanx of hand",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent organ",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "biological regulation",
+ "Global developmental delay",
"abdominal segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "abdominal segment element",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "abdomen element phenotype",
- "dentary phenotype",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "Micrognathia",
- "renal/urinary system phenotype",
+ "absent trunk region element",
+ "Renal agenesis",
+ "motile cell",
+ "absent abdominal segment element in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent organ in the renal system",
+ "digit morphology phenotype",
+ "absent abdomen element in the renal system",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "absent compound organ",
+ "oxygen accumulating cell",
+ "Abnormality of the integument",
+ "erythroid lineage cell morphology phenotype",
+ "sensory perception of mechanical stimulus",
+ "Abnormal upper limb bone morphology",
+ "skin of body",
+ "integumental system",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "Abnormal skin morphology",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "absent bone of appendage girdle complex",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "testis",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "cardiovascular system phenotype",
"localised abdomen element",
- "abdominal segment element phenotype"
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "testis phenotype",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "absent forelimb bone in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "forelimb long bone",
+ "serotonin secreting cell",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "radius endochondral element",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "Aplasia involving bones of the upper limbs",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "absent limb endochondral element in the forelimb",
+ "regulation of biological process phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "absent anatomical structure in the skeletal system"
],
- "has_phenotype_count": 20,
+ "has_phenotype_count": 32,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0024525",
+ "id": "MONDO:0001083",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
+ "name": "Fanconi renotubular syndrome",
"full_name": null,
"deprecated": null,
- "description": null,
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
"xref": [
- "DOID:0080757",
- "MEDGEN:1635492",
- "OMIM:134600",
- "UMLS:C4551503"
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
"adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome"
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0019391",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.",
+ "xref": [
+ "DOID:13636",
+ "GARD:6425",
+ "ICD9:284.09",
+ "MEDGEN:41967",
+ "MESH:D005199",
+ "MedDRA:10055206",
+ "NANDO:1200303",
+ "NANDO:1200891",
+ "NANDO:2200652",
+ "NCIT:C62505",
+ "NORD:1132",
+ "OMIMPS:227650",
+ "Orphanet:84",
+ "SCTID:30575002",
+ "UMLS:C0015625"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "Fanconi anemia",
+ "Fanconi pancytopenia",
+ "Fanconi panmyelopathy",
+ "Fanconi's anaemia",
+ "Fanconi's anemia",
+ "Panmyelopathy, Fanconi",
+ "pancytopenia, congenital",
+ "primary erythroid hypoplasia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001942",
- "HP:0002148",
- "HP:0000124",
- "HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
- "HP:0002748",
- "HP:0034359",
- "HP:0003076",
- "HP:0003155",
+ "HP:0000047",
+ "HP:0002575",
+ "HP:0000483",
+ "HP:0000238",
+ "HP:0001249",
+ "HP:0001000",
+ "HP:0100587",
+ "HP:0100026",
+ "HP:0040071",
+ "HP:0006824",
+ "HP:0005344",
+ "HP:0002414",
+ "HP:0000582",
+ "HP:0000518",
+ "HP:0000508",
+ "HP:0000252",
+ "HP:0010469",
+ "HP:0000377",
+ "HP:0002119",
+ "HP:0001392",
+ "HP:0000864",
+ "HP:0000316",
+ "HP:0000027",
+ "HP:0002863",
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100542",
+ "HP:0012639",
+ "HP:0012041",
+ "HP:0010293",
+ "HP:0008678",
+ "HP:0008053",
+ "HP:0007565",
+ "HP:0006265",
+ "HP:0006101",
+ "HP:0004349",
+ "HP:0004209",
+ "HP:0003022",
+ "HP:0002827",
+ "HP:0002823",
+ "HP:0002251",
+ "HP:0002245",
+ "HP:0002023",
+ "HP:0002007",
+ "HP:0001824",
+ "HP:0001770",
+ "HP:0001763",
+ "HP:0001760",
+ "HP:0001679",
+ "HP:0001646",
+ "HP:0001643",
+ "HP:0001639",
+ "HP:0001636",
+ "HP:0001631",
+ "HP:0001562",
+ "HP:0001537",
+ "HP:0001511",
+ "HP:0001510",
+ "HP:0001347",
+ "HP:0001199",
+ "HP:0000813",
+ "HP:0000639",
+ "HP:0000568",
+ "HP:0000520",
+ "HP:0000505",
+ "HP:0000504",
+ "HP:0000492",
+ "HP:0000486",
+ "HP:0000478",
+ "HP:0000453",
+ "HP:0000365",
+ "HP:0000364",
+ "HP:0000347",
+ "HP:0000340",
+ "HP:0000324",
+ "HP:0000286",
+ "HP:0000268",
+ "HP:0000218",
+ "HP:0000175",
+ "HP:0000135",
+ "HP:0000130",
"HP:0000083",
- "HP:0003355",
+ "HP:0000072",
+ "HP:0000035",
+ "HP:0000028",
+ "HP:0000010",
+ "HP:0012745",
+ "HP:0012210",
+ "HP:0007874",
+ "HP:0002664",
+ "HP:0002650",
+ "HP:0001671",
+ "HP:0001263",
+ "HP:0000079",
+ "HP:0007400",
+ "HP:0006501",
+ "HP:0005522",
"HP:0004322",
- "HP:0003126",
- "HP:0001324"
+ "HP:0003220",
+ "HP:0002817",
+ "HP:0001903",
+ "HP:0001882",
+ "HP:0001873",
+ "HP:0001871",
+ "HP:0001172",
+ "HP:0001053"
],
"has_phenotype_label": [
- "Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
- "Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
- "Impaired renal tubular reabsorption of phosphate",
- "Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
+ "Hypospadias",
+ "Tracheoesophageal fistula",
+ "Astigmatism",
+ "Hydrocephalus",
+ "Intellectual disability",
+ "Abnormality of skin pigmentation",
+ "Abnormal preputium morphology",
+ "Arteriovenous malformation",
+ "Abnormal morphology of ulna",
+ "Cranial nerve paralysis",
+ "Abnormal carotid artery morphology",
+ "Spina bifida",
+ "Upslanted palpebral fissure",
+ "Cataract",
+ "Ptosis",
+ "Microcephaly",
+ "Absent testis",
+ "Abnormal pinna morphology",
+ "Ventriculomegaly",
+ "Abnormality of the liver",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Hypertelorism",
+ "Azoospermia",
+ "Myelodysplasia",
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal localization of kidney",
+ "Abnormal nervous system morphology",
+ "Decreased fertility in males",
+ "Aplasia/Hypoplasia of the uvula",
+ "Renal hypoplasia/aplasia",
+ "Aplasia/Hypoplasia of the iris",
+ "Multiple cafe-au-lait spots",
+ "Aplasia/Hypoplasia of fingers",
+ "Finger syndactyly",
+ "Reduced bone mineral density",
+ "Clinodactyly of the 5th finger",
+ "Hypoplasia of the ulna",
+ "Hip dislocation",
+ "Abnormal femur morphology",
+ "Aganglionic megacolon",
+ "Meckel diverticulum",
+ "Anal atresia",
+ "Frontal bossing",
+ "Weight loss",
+ "Toe syndactyly",
+ "Pes planus",
+ "Abnormal foot morphology",
+ "Abnormal aortic morphology",
+ "Abnormal aortic valve morphology",
+ "Patent ductus arteriosus",
+ "Hypertrophic cardiomyopathy",
+ "Tetralogy of Fallot",
+ "Atrial septal defect",
+ "Oligohydramnios",
+ "Umbilical hernia",
+ "Intrauterine growth retardation",
+ "Growth delay",
+ "Hyperreflexia",
+ "Triphalangeal thumb",
+ "Bicornuate uterus",
+ "Nystagmus",
+ "Microphthalmia",
+ "Proptosis",
+ "Visual impairment",
+ "Abnormality of vision",
+ "Abnormal eyelid morphology",
+ "Strabismus",
+ "Abnormality of the eye",
+ "Choanal atresia",
+ "Hearing impairment",
+ "Hearing abnormality",
+ "Micrognathia",
+ "Sloping forehead",
+ "Facial asymmetry",
+ "Epicanthus",
+ "Dolichocephaly",
+ "High palate",
+ "Cleft palate",
+ "Hypogonadism",
+ "Abnormality of the uterus",
"Renal insufficiency",
- "Aminoaciduria",
+ "Hydroureter",
+ "Abnormal testis morphology",
+ "Cryptorchidism",
+ "Recurrent urinary tract infections",
+ "Short palpebral fissure",
+ "Abnormal renal morphology",
+ "Almond-shaped palpebral fissure",
+ "Neoplasm",
+ "Scoliosis",
+ "Abnormal cardiac septum morphology",
+ "Global developmental delay",
+ "Abnormality of the urinary system",
+ "Irregular hyperpigmentation",
+ "Aplasia/Hypoplasia of the radius",
+ "Pyridoxine-responsive sideroblastic anemia",
"Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness"
+ "Abnormality of chromosome stability",
+ "Abnormality of the upper limb",
+ "Anemia",
+ "Leukopenia",
+ "Thrombocytopenia",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal thumb morphology",
+ "Hypopigmented skin patches"
],
"has_phenotype_closure": [
- "UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
- "HP:0000093",
- "HP:0003126",
- "CHEBI:37622",
+ "HP:0001010",
+ "HP:0001873",
+ "UPHENO:0080010",
+ "CL:0000457",
+ "UPHENO:0077373",
+ "CL:0000233",
+ "CL:0000458",
+ "UPHENO:0085344",
+ "HP:0011875",
+ "UPHENO:0086173",
+ "HP:0011893",
+ "CL:0000738",
+ "UPHENO:0088166",
+ "UPHENO:0035160",
+ "UPHENO:0088319",
+ "UPHENO:0076675",
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+ "CL:0000255",
+ "CL:0000219",
+ "UBERON:0000178",
+ "UPHENO:0077348",
+ "UPHENO:0085410",
+ "UPHENO:0049904",
+ "GO:0008152",
+ "HP:0003220",
+ "HP:0000002",
"UPHENO:0080351",
+ "UPHENO:0075159",
+ "HP:0010972",
+ "GO:0030099",
+ "GO:0030097",
+ "CL:0000988",
+ "GO:0048872",
+ "GO:0042592",
+ "GO:0002376",
+ "GO:0009987",
+ "HP:0001877",
+ "CL:0000232",
+ "HP:0005522",
+ "GO:0048871",
+ "GO:0048869",
+ "UPHENO:0088170",
+ "CL:0000764",
+ "CL:0001035",
+ "GO:0030218",
+ "UPHENO:0088162",
+ "HP:0025461",
+ "UBERON:0015001",
+ "UPHENO:0080187",
+ "HP:0002650",
+ "HP:0200005",
+ "UPHENO:0041462",
+ "UPHENO:0069119",
+ "UPHENO:0046755",
+ "UPHENO:0075198",
+ "UPHENO:0069562",
+ "HP:0000010",
+ "UPHENO:0002263",
+ "UPHENO:0002948",
+ "UPHENO:0053561",
+ "CL:0000329",
+ "UPHENO:0053632",
+ "UPHENO:0002940",
+ "UPHENO:0053647",
+ "UPHENO:0053644",
+ "UPHENO:0053572",
+ "HP:0000028",
+ "UPHENO:0053559",
+ "UBERON:0000056",
+ "UPHENO:0002636",
+ "UBERON:0036295",
+ "HP:0000072",
+ "UBERON:0006555",
+ "UPHENO:0003101",
+ "HP:0025633",
+ "UPHENO:0002859",
+ "UPHENO:0002426",
+ "UPHENO:0002377",
+ "UPHENO:0002427",
+ "UPHENO:0002442",
+ "UPHENO:0002411",
+ "HP:0012211",
+ "UPHENO:0002422",
+ "HP:0000135",
+ "UPHENO:0003056",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "UPHENO:0066945",
+ "UPHENO:0033589",
+ "UPHENO:0002806",
+ "UPHENO:0033612",
+ "HP:5201015",
+ "UPHENO:0077399",
+ "UPHENO:0001392",
+ "HP:0000218",
+ "UPHENO:0063518",
+ "UPHENO:0063524",
+ "UPHENO:0081423",
+ "UPHENO:0063529",
+ "UPHENO:0063519",
+ "HP:0000268",
+ "UPHENO:0072402",
+ "UPHENO:0072332",
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"has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
+ "decreased biological_process in multicellular organism",
+ "Hypopigmentation of the skin",
+ "Abnormal platelet morphology",
+ "Thrombocytopenia",
+ "Abnormal platelet count",
+ "decreased number of platelet",
+ "number of platelet phenotype",
+ "serotonin secreting cell",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
+ "Abnormal immune system morphology",
+ "Abnormal cellular immune system morphology",
+ "decreased number of hematopoietic cell",
+ "leukocyte",
+ "decreased number of anatomical structure in the multicellular organism",
+ "decreased number of leukocyte in the blood",
+ "decreased number of anatomical structure",
+ "Leukopenia",
+ "nucleate cell",
+ "motile cell",
+ "decreased number of anatomical entity in the blood",
+ "Abnormality of chromosome stability",
+ "Abnormal cellular physiology",
+ "decreased height of the multicellular organism",
+ "decreased size of the multicellular organism",
+ "size of multicellular organism phenotype",
+ "cellular developmental process",
+ "decreased number of anatomical entity in the multicellular organism",
+ "blood cell",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "Abnormal bone marrow cell morphology",
+ "Sideroblastic anemia",
+ "homeostatic process",
+ "immune system process",
+ "cellular process",
+ "erythrocyte differentiation",
+ "Abnormal erythroid lineage cell morphology",
+ "cell development",
+ "Abnormal myeloid cell morphology",
+ "Anemia of inadequate production",
+ "hemopoiesis",
+ "erythroid lineage cell",
+ "homeostasis of number of cells",
+ "erythrocyte homeostasis",
+ "bone cell",
+ "aplasia or hypoplasia of radius bone",
+ "Abnormal morphology of the radius",
+ "radius bone phenotype",
+ "radius bone morphology phenotype",
+ "Neurodevelopmental delay",
+ "shape palpebral fissure",
+ "Abnormal shape of the palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "decreased size of the orifice",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the palpebral fissure",
+ "decreased length of orifice",
+ "decreased length of anatomical conduit",
+ "immune system physiology phenotype",
+ "Unusual infection",
+ "localised male reproductive organ",
+ "localised organ",
+ "Cryptorchidism",
+ "localised anatomical structure",
+ "ureter",
+ "excretory tube phenotype",
+ "Abnormal ureter morphology",
+ "Abnormality of the ureter",
+ "Hypopigmented skin patches",
+ "Abnormality of the urinary system physiology",
+ "cavitated compound organ physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "gonad physiology phenotype",
+ "decreased functionality of the gonad",
+ "decreased functionality of the reproductive structure",
+ "Cleft palate",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "Craniofacial cleft",
+ "incomplete closing of the multi-tissue structure",
+ "increased size of the structure with developmental contribution from neural crest",
+ "anatomical entity height phenotype",
+ "increased height of the anatomical structure",
+ "High palate",
+ "increased height of the material anatomical entity",
+ "increased height of the roof of mouth",
+ "increased height of the anatomical entity",
+ "immune system morphology phenotype",
+ "increased height of the multicellular anatomical structure",
+ "increased height of the ectoderm-derived structure",
+ "increased size of the neural crest-derived structure",
+ "increased height of the multi-tissue structure",
+ "number of leukocyte phenotype",
+ "increased length of the ectoderm-derived structure",
+ "increased length of the organ part",
+ "increased length of the epicanthal fold",
+ "Epicanthus",
+ "upper eyelid",
+ "skin of head morphology phenotype",
+ "head or neck skin",
+ "skin of face",
+ "zone of skin",
+ "increased size of the zone of organ",
+ "skin of head",
+ "asymmetry of anatomical entity phenotype",
+ "Abnormal leukocyte count",
+ "Facial asymmetry",
+ "asymmetry of face phenotype",
+ "Sloping forehead",
+ "forehead morphology phenotype",
+ "sloped anatomical entity",
+ "lower jaw region",
+ "dermal bone phenotype",
+ "increased height of the structure with developmental contribution from neural crest",
+ "intramembranous bone phenotype",
+ "bone element hypoplasia in face",
+ "secretory cell",
+ "bone of lower jaw phenotype",
+ "mandible morphology phenotype",
+ "mandible",
+ "dentary phenotype",
+ "facial bone hypoplasia",
+ "bone of lower jaw",
+ "anatomical entity hypoplasia in face",
+ "skin of eyelid",
+ "Aplasia/Hypoplasia of the mandible",
+ "mandible hypoplasia",
+ "sensory perception of sound",
+ "decreased sensory perception of sound",
+ "sloped forehead",
+ "sensory perception of mechanical stimulus",
+ "decreased qualitatively sensory perception of sound",
+ "Hearing abnormality",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased system process",
+ "Hearing impairment",
+ "nose phenotype",
+ "naris",
+ "olfactory organ",
+ "compound organ physiology phenotype",
+ "posterior nasal aperture morphology phenotype",
+ "naris atresia",
+ "posterior nasal aperture",
+ "Abnormal conjugate eye movement",
+ "Strabismus",
+ "visual perception",
+ "sensory perception of light stimulus",
+ "decreased qualitatively system process",
+ "decreased qualitatively visual perception",
+ "sensory perception phenotype",
+ "decreased qualitatively nervous system process",
+ "Abnormality of globe size",
+ "sensory perception of light stimulus phenotype",
+ "size of eyeball of camera-type eye phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "internal ear physiology phenotype",
+ "eye movement",
+ "vestibulo-ocular reflex phenotype",
+ "Abnormal vestibulo-ocular reflex",
+ "Abnormality of eye movement",
+ "multi organ part structure physiology phenotype",
+ "Abnormal vestibular function",
+ "Aplasia/Hypoplasia of facial bones",
+ "bicornuate uterus",
+ "female organism",
+ "internal female genitalia morphology phenotype",
+ "decreased functionality of the organ",
+ "oviduct",
+ "uterus",
+ "bicornuate anatomical entity",
+ "shape uterus",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the uterus",
+ "subdivision of oviduct phenotype",
+ "internal female genitalia",
+ "Abnormal finger phalanx morphology",
+ "Triphalangeal thumb",
+ "manual digitopodium bone",
+ "digit 1",
+ "manual digit 1 morphology phenotype",
+ "decreased sensory perception",
+ "manual digit bone",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
+ "manual digit 1",
+ "ureter morphology phenotype",
+ "skeleton of manual acropodium",
+ "skeleton of manual digitopodium",
+ "Abnormality of the immune system",
+ "manual digit phalanx endochondral element",
+ "facial bone phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "manus bone",
+ "excretory tube",
+ "manual digit 1 phalanx endochondral element",
+ "phalanx of manus",
+ "manual digit 1 plus metapodial segment",
+ "neuromuscular process",
+ "kinesthetic behavior",
+ "voluntary musculoskeletal movement",
+ "voluntary movement behavior phenotype",
+ "system process phenotype",
+ "reflex phenotype",
+ "increased response to stimulus",
+ "Recurrent urinary tract infections",
+ "involuntary movement behavior",
+ "response to external stimulus phenotype",
+ "reflex",
+ "increased qualitatively response to stimulus",
+ "Global developmental delay",
+ "reflexive behavior",
+ "behavior phenotype",
+ "Hyperreflexia",
+ "multicellular organismal movement phenotype",
+ "decreased embryo development",
+ "decreased qualitatively multicellular organismal process",
+ "anatomical structure development phenotype",
+ "multicellular organismal process phenotype",
+ "Growth delay",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
+ "delayed growth",
+ "embryo development rate phenotype",
+ "embryo development phenotype",
+ "Abnormality of vision",
+ "anatomical wall phenotype",
+ "Hernia",
+ "Abnormality of connective tissue",
+ "digit 1 digitopodial skeleton",
+ "tissue phenotype",
+ "herniated abdominal wall",
+ "connective tissue",
+ "erythrocyte morphology phenotype",
+ "umbilicus",
+ "abdominal wall phenotype",
+ "herniated anatomical entity",
+ "facial skeleton",
+ "abdominal viscera",
+ "incomplete closing of the organ part",
+ "embryo phenotype",
+ "organism substance phenotype",
+ "Renal insufficiency",
+ "late embryo",
+ "Abnormality of prenatal development or birth",
+ "uterus phenotype",
+ "Oligohydramnios",
+ "response to external stimulus",
+ "Abnormality of the amniotic fluid",
+ "embryonic development/birth phenotype",
+ "cardiac atrium morphology phenotype",
+ "metabolic process",
+ "Abnormal cardiac septum morphology",
+ "interatrial septum",
+ "Abnormal atrial septum morphology",
+ "cardiac septum",
+ "increased size of the cardiac ventricle",
+ "incomplete closing of the interventricular septum",
+ "Abnormality of thumb phalanx",
+ "increased size of the mesoderm-derived structure",
+ "cardiac septum morphology phenotype",
+ "right cardiac chamber phenotype",
+ "cardiac septum phenotype",
+ "increased size of the lateral structure",
+ "size of cardiac ventricle phenotype",
+ "interventricular septum morphology phenotype",
+ "heart right ventricle morphology phenotype",
+ "cardiac ventricle phenotype",
+ "septum phenotype",
+ "incomplete closing of the cardiac septum",
+ "cardiac chamber morphology in the heart phenotype",
+ "hypertrophic cardiac ventricle",
+ "cardiac chamber phenotype",
+ "septum",
+ "increased size of the cardiac chamber",
+ "incomplete closing of the septum",
+ "Intrauterine growth retardation",
+ "decreased functionality of the multicellular anatomical structure",
+ "mesoderm-derived structure physiology phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "decreased nervous system process",
+ "decreased functionality of the organ component layer",
+ "Abnormality of the abdominal wall",
+ "organ component layer physiology phenotype",
+ "heart layer phenotype",
+ "layer of muscle tissue phenotype",
+ "Abnormal choanae morphology",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "Hypertrophic cardiomyopathy",
+ "Abnormal myocardium morphology",
+ "decreased multicellular organism development",
+ "heart layer",
+ "decreased functionality of the anatomical entity",
+ "decreased multicellular organismal process",
+ "incomplete closing of the trunk blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "systemic artery phenotype",
+ "blood vessel phenotype",
+ "nervous system process phenotype",
+ "incomplete closing of the coronary vessel",
+ "coronary vessel morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "incomplete closing of the heart blood vessel",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "aplasia or hypoplasia of mandible",
+ "trunk blood vessel",
+ "trunk blood vessel phenotype",
+ "vasculature of organ",
+ "vasculature of trunk",
+ "heart blood vessel",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "sensory perception of sound phenotype",
+ "response to stimulus",
+ "ductus arteriosus",
+ "incomplete closing of the artery",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "myeloid cell",
+ "incomplete closing of the blood vessel",
+ "anatomical entity morphology in the heart phenotype",
+ "Patent ductus arteriosus",
+ "anatomical structure morphology in the heart phenotype",
+ "hematopoietic cell",
+ "semi-lunar valve",
+ "neuromuscular process phenotype",
+ "heart",
+ "aortic valve morphology phenotype",
+ "platelet phenotype",
+ "Abnormal heart morphology",
+ "Abnormal heart valve morphology",
+ "semi-lunar valve morphology phenotype",
+ "heart morphology phenotype",
+ "internal ear",
+ "heart left ventricle",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "outflow part of left ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "cardiac valve",
+ "bone of jaw",
+ "aortic system",
+ "aortic valve",
+ "thoracic cavity blood vessel",
+ "great vessel of heart",
+ "Abnormal aortic morphology",
+ "aorta morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "great vessel of heart morphology phenotype",
+ "aorta",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "longitudinal arch of pes",
+ "Pes planus",
+ "flat anatomical entity",
+ "flattened anatomical entity",
+ "shape longitudinal arch of pes",
+ "trunk region element physiology phenotype",
+ "Toe syndactyly",
+ "fused anatomical entity and pedal digit",
+ "incomplete closing of the anatomical wall",
+ "pedal digit phenotype",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "platelet",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
+ "growth",
+ "radius bone",
+ "growth phenotype",
+ "Weight loss",
+ "obsolete cell",
+ "material anatomical entity mass phenotype",
+ "Decreased body weight",
+ "Abnormality of body weight",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "anatomical structure mass phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal calvaria morphology",
+ "frontal cortex morphology phenotype",
+ "neurocranium morphology phenotype",
+ "olfactory system morphology phenotype",
+ "cranium morphology phenotype",
+ "Puberty and gonadal disorders",
+ "central nervous system cell part cluster",
+ "hypertrophic multicellular anatomical structure",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "shape of frontal cortex phenotype",
+ "primary subdivision of skull",
+ "cranium",
+ "frontal cortex",
+ "gray matter",
+ "dermal bone",
+ "aplasia or hypoplasia of skull",
+ "frontal lobe",
+ "pallium",
+ "prominent forehead",
+ "brain gray matter phenotype",
+ "forehead",
+ "tetrapod frontal bone",
+ "neurocranium bone",
+ "gray matter of forebrain phenotype",
+ "decreased number of cell",
+ "gray matter phenotype",
+ "cortex of cerebral lobe",
+ "primary subdivision of cranial skeletal system",
+ "vault of skull",
+ "cardiovascular system physiology phenotype",
+ "prominent anatomical entity",
+ "neurocranium",
+ "bone of craniocervical region",
+ "cranial bone",
+ "intramembranous bone",
+ "membrane bone",
+ "heart plus pericardium",
+ "gray matter of forebrain",
+ "anus",
+ "closing of the multicellular anatomical structure",
+ "material anatomical entity atresia",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "closing of the anatomical structure",
+ "anus morphology phenotype",
+ "bone marrow",
+ "anus atresia",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "Abnormal ileum morphology",
+ "parasympathetic nervous system",
+ "large intestine morphology phenotype",
+ "autonomic nervous system",
+ "Abnormal peripheral nervous system ganglion morphology",
+ "Abnormal autonomic nervous system morphology",
+ "ganglion of peripheral nervous system",
+ "Abnormal large intestine morphology",
+ "interatrial septum morphology phenotype",
+ "Abnormality of the autonomic nervous system",
+ "haemolymphatic fluid",
+ "ganglion morphology phenotype",
+ "enteric nervous system",
+ "Aganglionic megacolon",
+ "enteric ganglion",
+ "Megacolon",
+ "lower digestive tract",
+ "Abnormal ganglion morphology",
+ "stylopod",
+ "late embryo phenotype",
+ "valve",
+ "Abnormal femur morphology",
+ "decreased qualitatively pigmentation",
+ "increased length of the head or neck skin",
+ "innominate bone",
+ "hip joint morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "protruding anatomical entity",
+ "Abnormal pelvic girdle bone morphology",
+ "pelvic region of trunk",
+ "hip",
+ "appendage girdle region",
+ "girdle skeleton",
+ "trunk bone",
+ "Lower extremity joint dislocation",
+ "Abnormal hip bone morphology",
+ "skeletal joint morphology phenotype",
+ "heart layer morphology phenotype",
+ "hip dislocation",
+ "skeletal joint phenotype",
+ "synovial joint morphology phenotype",
+ "girdle bone/zone",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "Hip dislocation",
+ "outflow part of left ventricle morphology phenotype",
+ "vertebral column",
+ "tube closure phenotype",
+ "ileum",
+ "embryonic tissue",
+ "forehead phenotype",
+ "neural tube closure",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "Vertebral arch anomaly",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "decreased pigmentation in multicellular organism",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
+ "anatomical structure morphogenesis",
+ "Abnormal ear physiology",
+ "ecto-epithelium",
+ "Abnormality of the vasculature",
+ "incomplete closing of the anatomical entity",
+ "postcranial axial skeleton",
+ "localised multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis",
+ "tube formation",
+ "eyelid morphology phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "tissue morphogenesis",
+ "incomplete closing of the vessel",
+ "presumptive structure",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "entire sense organ system",
+ "formed organ part",
+ "bony vertebral centrum",
+ "cranial neuron projection bundle",
+ "Clubbing",
+ "head bone",
+ "shape digit",
+ "peripheral nervous system morphology phenotype",
+ "Abnormal spinal cord morphology",
+ "nerve phenotype",
+ "developmental process",
+ "increased size of the heart right ventricle",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "abdominal segment bone",
+ "Cranial nerve paralysis",
+ "increased number of multicellular anatomical structure",
+ "Spinal dysraphism",
+ "Frontal bossing",
+ "nerve",
+ "esophagus morphology phenotype",
+ "cranial nerve",
+ "internal naris atresia",
+ "musculature of body",
+ "nerve of head region",
+ "phenotype",
+ "anatomical space",
+ "pelvic appendage",
+ "body part movement",
+ "cranial nerve phenotype",
+ "artery phenotype",
+ "autopodial extension",
+ "Abnormal cranial nerve physiology",
+ "appendage girdle complex",
+ "Abnormal limb bone morphology",
+ "reproductive process",
+ "kidney phenotype",
+ "limb morphology phenotype",
+ "cognition",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
+ "nerve of head region phenotype",
+ "decreased functionality of the myocardium",
+ "limb bone phenotype",
+ "face",
+ "multicellular anatomical structure mass phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "bone of pectoral complex morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "vertebral column phenotype",
+ "Hernia of the abdominal wall",
+ "autopodial extension phenotype",
+ "Abnormal forearm bone morphology",
+ "forelimb zeugopod morphology phenotype",
+ "limb skeleton subdivision",
+ "femur",
+ "skull",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "vault of skull phenotype",
+ "epithelium development",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Abnormal peripheral nervous system morphology",
+ "arm bone phenotype",
+ "olfactory organ phenotype",
+ "multi-limb segment region phenotype",
+ "Nystagmus",
+ "esophagus",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "endochondral element phenotype",
+ "forelimb bone phenotype",
+ "bone element",
+ "decreased reproductive process",
+ "skeletal element",
+ "zeugopod",
+ "system development",
+ "pectoral appendage",
+ "deviation of manual digit 5 towards the middle",
+ "bony vertebral centrum morphology phenotype",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "olfactory system",
+ "Neoplasm by anatomical site",
+ "limb",
+ "increased size of the material anatomical entity",
+ "respiratory system",
+ "hip joint",
+ "Small intestinal stenosis",
+ "flat longitudinal arch of pes",
+ "neuron projection bundle phenotype",
+ "Abnormal morphology of ulna",
+ "multicellular organismal reproductive process",
+ "Abnormality of the musculoskeletal system",
+ "Microcephaly",
+ "pectoral appendage skeleton",
+ "alimentary part of gastrointestinal system phenotype",
+ "ulna endochondral element",
+ "localised gonad",
+ "paired limb/fin",
+ "incomplete closing of the skeletal element",
+ "absent sperm",
+ "subdivision of skeleton",
+ "shape of forehead phenotype",
+ "endochondral bone",
+ "decreased number of anatomical entity",
+ "Abnormal forebrain morphology",
+ "Abnormal forearm morphology",
+ "vertebra",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "vertebral element",
+ "pelvic region element phenotype",
+ "viscus",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "bone of free limb or fin",
+ "arch of centrum of vertebra phenotype",
+ "limb endochondral element",
+ "neural tube formation",
+ "neuron projection bundle",
+ "digestive system gland phenotype",
+ "increased length of the skin of eyelid",
+ "internal male genitalia phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "paired limb/fin phenotype",
+ "Abnormal internal genitalia",
+ "localised testis",
+ "decreased qualitatively sensory perception of light stimulus",
+ "forelimb morphology phenotype",
+ "Myelodysplasia",
+ "Abnormal blood vessel morphology",
+ "parasympathetic ganglion",
+ "formed ectoderm-derived structure",
+ "decreased size of the arm bone",
+ "cardiovascular system phenotype",
+ "anatomical cluster phenotype",
+ "blood",
+ "Abnormal morphology of female internal genitalia",
+ "anatomical cluster",
+ "Functional abnormality of male internal genitalia",
+ "acropodium region",
+ "coronary vessel",
+ "cranial nerve physiology phenotype",
+ "ventricle of nervous system",
+ "paralysed anatomical entity",
+ "multi-limb segment region",
+ "blood vessel",
+ "compound organ",
+ "eye",
+ "venous system",
+ "outflow tract",
+ "germ cell",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "upper urinary tract phenotype",
+ "Abnormal jaw morphology",
+ "Meckel diverticulum",
+ "irregular bone",
+ "organism",
+ "secondary palate",
+ "male reproductive organ morphology phenotype",
+ "skeleton of digitopodium",
+ "myeloid cell homeostasis",
+ "glans penis",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "Abnormal preputium morphology",
+ "penis morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "mouth phenotype",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
+ "cornea morphology phenotype",
+ "leg bone",
+ "Abnormal skin morphology",
+ "multi-tissue structure phenotype",
+ "opaque anatomical entity",
+ "decreased anatomical structure mass",
+ "forelimb zeugopod bone phenotype",
+ "pigmentation",
+ "developing anatomical structure",
+ "skeleton of limb",
+ "Abnormality of skin pigmentation",
+ "female reproductive system",
+ "dermal skeleton",
+ "phenotypic effect",
+ "aplasia or hypoplasia of iris",
+ "pigmentation phenotype",
+ "heart left ventricle morphology phenotype",
+ "individual digit of digitopodial skeleton",
+ "Umbilical hernia",
+ "Arteriovenous malformation",
+ "increased size of the multi-tissue structure",
+ "head bone morphology phenotype",
+ "Abnormal eye morphology",
+ "incomplete closing of the secondary palate",
+ "increased length of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "integument",
+ "Abnormal connection of the cardiac segments",
+ "leg phenotype",
+ "cardiac atrium",
+ "Abnormality of the integument",
+ "genitourinary system phenotype",
+ "Abnormality of the forehead",
+ "mouth morphology phenotype",
+ "multicellular organismal process",
+ "bone of pelvic complex",
+ "system process",
+ "sensory perception",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "process",
+ "Abnormal shape of the frontal region",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "autopod endochondral element",
+ "shape anatomical entity",
+ "mandible phenotype",
+ "autonomic ganglion",
+ "axial skeletal system",
+ "brain",
+ "ventricular system of central nervous system",
+ "neural crest-derived structure, curved phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "musculature phenotype",
+ "reproductive system physiology phenotype",
+ "myeloid cell differentiation",
+ "increased number of organ part",
+ "decreased biological_process in skin of body",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "decreased length of forelimb zeugopod bone",
+ "digit 1 plus metapodial segment",
+ "Abnormality of the anus",
+ "cerebrospinal fluid morphology phenotype",
+ "synovial joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "facial bone",
+ "increased number of brain ventricle",
+ "Recurrent infections",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "size of heart right ventricle phenotype",
+ "Abnormality of the urinary system",
+ "incomplete closing of the neural crest-derived structure",
+ "Abnormal cerebrospinal fluid morphology",
+ "external soft tissue zone",
+ "Abnormal mandible morphology",
+ "skeletal system phenotype",
+ "male gamete generation phenotype",
+ "digit plus metapodial segment",
+ "head",
+ "internal genitalia phenotype",
+ "bone of appendage girdle complex phenotype",
+ "Abnormal esophagus morphology",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "organism subdivision",
+ "multicellular organismal-level homeostasis",
+ "chordate embryonic development",
+ "anterior segment of eyeball",
+ "Abnormal morphology of the great vessels",
+ "pectoral complex",
+ "Abnormality of the peripheral nervous system",
+ "trunk region element",
+ "endoderm-derived structure",
+ "lateral structure",
+ "Orofacial cleft",
+ "digestive system element",
+ "Abnormal digestive system morphology",
+ "Tracheoesophageal fistula",
+ "spinal cord morphology phenotype",
+ "Abnormal cardiac atrium morphology",
+ "Neoplasm",
+ "Abnormal intestine morphology",
+ "nervous system process",
+ "limb bone morphology phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "Abnormal gastrointestinal tract morphology",
+ "embryonic morphogenesis",
+ "phalanx of pes morphology phenotype",
+ "body proper",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "tunica fibrosa of eyeball",
+ "anatomical structure physiology phenotype",
+ "mesoderm-derived structure phenotype",
+ "appendage",
+ "Abnormal facial shape",
+ "location of anatomical entity phenotype",
+ "tube morphogenesis",
+ "camera-type eye morphology phenotype",
+ "brain gray matter",
+ "embryo development",
+ "Abnormal tracheobronchial morphology",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "size of brain ventricle phenotype",
+ "limb phenotype",
+ "Abnormal anterior eye segment morphology",
+ "organ subunit",
+ "absent sperm in the semen",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "connective tissue phenotype",
+ "increased biological_process",
+ "digestive tract",
+ "face morphology phenotype",
+ "Abnormal external genitalia",
+ "arm phenotype",
+ "digestive system phenotype",
+ "Abnormal respiratory system physiology",
+ "reproductive structure physiology phenotype",
"Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
+ "Abnormality of the vertebral column",
+ "reproductive organ physiology phenotype",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "male reproductive organ",
+ "sensory perception of mechanical stimulus phenotype",
+ "internal naris phenotype",
+ "disconnected anatomical group",
+ "cerebral cortex",
+ "tracheobronchial tree",
+ "decreased size of the forelimb bone",
+ "tube development",
+ "multicellular anatomical structure phenotype",
+ "Abnormal toe morphology",
+ "Anemia",
+ "morphological feature",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Abnormality of the urethra",
+ "immaterial entity",
+ "Abnormal systemic arterial morphology",
"renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
+ "peripheral nervous system",
+ "Abnormal anterior chamber morphology",
+ "zeugopodial skeleton",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "immune system",
+ "endocrine system",
+ "sense organ physiology phenotype",
+ "ear physiology phenotype",
+ "uterus morphology phenotype",
+ "Abnormal neural tube morphology",
+ "Abnormal enteric ganglion morphology",
+ "excretory system",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "male reproductive system",
+ "forelimb endochondral element",
+ "physiologic nystagmus",
+ "hemolymphoid system",
+ "organ subunit phenotype",
+ "respiratory tract",
+ "amniotic fluid phenotype",
+ "respiratory tube",
+ "glans",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "developmental process phenotype",
+ "limb endochondral element phenotype",
+ "blood vasculature",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "increased reflex",
+ "long bone",
+ "material entity",
+ "cardiovascular system",
+ "number of sperm phenotype",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Slanting of the palpebral fissure",
+ "decreased length of limb bone",
+ "structure with developmental contribution from neural crest",
+ "intromittent organ phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "pelvic girdle bone/zone morphology phenotype",
+ "Neural tube defect",
+ "prepuce",
+ "decreased male gamete generation",
+ "organ system subdivision",
+ "Syndactyly",
+ "skeletal system morphology phenotype",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "Abnormal peripheral nerve morphology by anatomical site",
+ "independent continuant",
+ "anatomical line between pupils",
+ "reproductive system",
+ "thoracic cavity element",
+ "skeleton",
+ "multicellular organism",
+ "Abnormality of the orbital region",
+ "decreased size of the limb endochondral element",
+ "roof of mouth",
+ "neural tube development",
+ "external genitalia",
+ "camera-type eye",
+ "decreased number of myeloid cell",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "forelimb zeugopod bone",
+ "head phenotype",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "penis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "Abnormal form of the vertebral bodies",
+ "upper urinary tract",
+ "right cardiac chamber",
+ "manual digitopodium region",
+ "gray matter of telencephalon",
+ "urethral meatus",
+ "dorsal region element",
+ "Abnormality of the cardiovascular system",
+ "central nervous system gray matter layer",
+ "pedal digit bone",
+ "increased length of the non-material anatomical boundary",
+ "chamber of eyeball",
+ "Clinodactyly",
+ "palatine uvula",
+ "reproductive structure phenotype",
+ "quality",
+ "central nervous system cell part cluster phenotype",
+ "anatomical collection phenotype",
+ "Abnormal toe phalanx morphology",
+ "arch of centrum of vertebra",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "increased length of the skin of face",
+ "decreased size of the limb bone",
+ "central nervous system morphology phenotype",
+ "shape of external ear phenotype",
+ "anatomical conduit phenotype",
+ "skeleton of lower jaw",
+ "common carotid artery plus branches morphology phenotype",
+ "eyelid",
+ "endochondral bone phenotype",
+ "Abnormality of the ear",
+ "decreased qualitatively developmental process involved in reproduction",
+ "Abnormal male urethral meatus morphology",
+ "reproductive structure",
+ "epithelial tube",
+ "decreased height of the anatomical entity",
+ "decreased developmental process involved in reproduction",
+ "Abnormality of the eye",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "anatomical system",
+ "upper digestive tract",
+ "sense organ phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "Abnormality of reproductive system physiology",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "pedal digit phalanx endochondral element",
+ "organ",
+ "pedal digit plus metapodial segment",
+ "Phenotypic abnormality",
"multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
+ "increased number of organ component layer",
+ "nervous system",
+ "anatomical projection phenotype",
+ "anatomical system physiology phenotype",
+ "Displacement of the urethral meatus",
+ "organ part physiology phenotype",
+ "skin of body morphology phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "Abnormality of immune system physiology",
+ "localised anatomical entity",
+ "organ system subdivision phenotype",
+ "simple eye phenotype",
+ "homeostatic process phenotype",
+ "behavior",
+ "abdomen element",
+ "protruding eyeball of camera-type eye",
+ "embryonic epithelial tube formation",
+ "respiratory airway",
+ "subdivision of trunk",
+ "multicellular organismal movement",
+ "fused anatomical entity and anatomical entity",
+ "neural tube",
+ "male urethra",
+ "organ part",
+ "Decreased bone element mass density",
+ "material anatomical entity phenotype",
+ "Short palpebral fissure",
+ "umbilicus morphology phenotype",
+ "Abnormal skeletal morphology",
+ "increased pigmentation",
+ "Abnormality of the genital system",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "Abnormal ventriculoarterial connection",
+ "alimentary part of gastrointestinal system",
+ "shape of continuant phenotype",
+ "deviation of digit towards the middle",
+ "lower urinary tract",
+ "Abnormality of globe location",
+ "jaw region",
+ "artery",
+ "telencephalon phenotype",
+ "curved anatomical entity",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "subdivision of organism along appendicular axis",
+ "decreased length of endochondral element",
+ "Abnormal cell morphology",
+ "Abnormal palate morphology",
+ "articulation",
+ "cornea, curved phenotype",
+ "mesoderm-derived structure",
+ "autopod bone",
+ "system",
+ "anatomical structure, curved phenotype",
+ "brain morphology phenotype",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "musculoskeletal movement phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "transparent eye structure",
+ "dentary",
+ "behavior process phenotype",
+ "femur endochondral element",
+ "organ component layer phenotype",
+ "subdivision of tube",
+ "Abnormality of the inner ear",
+ "vertebra morphology phenotype",
+ "Decreased fertility in males",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "subdivision of oviduct",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "cerebral cortex morphology phenotype",
+ "urethra phenotype",
+ "Abnormality of the lower urinary tract",
+ "Hypogonadism",
+ "urethral opening",
+ "arm bone",
+ "skeleton of pectoral complex",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "increased size of the zone of skin",
+ "cornea phenotype",
+ "formed chamber of eyeball",
+ "Decreased head circumference",
+ "anatomical entity",
+ "localised material anatomical entity",
+ "ear phenotype",
+ "musculoskeletal movement",
+ "decreased qualitatively biological_process",
+ "increased volume of anatomical entity",
+ "forelimb bone",
+ "Abnormal uvula morphology",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "Intellectual disability",
+ "embryonic structure",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "proximo-distal subdivision of respiratory tract",
+ "Abnormal penis morphology",
+ "appendage phenotype",
+ "Hypoplastic facial bones",
"organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
+ "arm",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "ocular surface region",
+ "thoracic segment of trunk",
+ "bone of jaw phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "tetrapod frontal bone morphology phenotype",
+ "pes bone",
+ "renal pelvis/ureter",
+ "male urethral meatus",
+ "primary neural tube formation",
+ "Abnormality of the respiratory system",
+ "segment of autopod",
+ "ductus arteriosus morphology phenotype",
+ "increased pigmentation in skin of body",
+ "cranial neuron projection bundle phenotype",
+ "Abnormal male reproductive system physiology",
+ "reproductive organ",
+ "Abnormality of the digestive system",
+ "anatomical structure development",
+ "arterial blood vessel",
+ "decreased spermatogenesis",
+ "limb segment",
+ "external genitalia phenotype",
+ "nervous system cell part layer",
+ "aplasia or hypoplasia of uvea",
+ "size of palpebral fissure phenotype",
+ "vestibulo-ocular reflex",
+ "neocortex",
+ "Abnormality of refraction",
+ "digit 5",
+ "Abnormal curvature of the vertebral column",
+ "multi cell part structure phenotype",
+ "ureter phenotype",
+ "hematopoietic system",
+ "multicellular anatomical structure",
+ "reproductive system phenotype",
+ "hindlimb endochondral element",
+ "ventricular system of brain",
+ "innominate bone morphology phenotype",
+ "eye phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal vertebral morphology",
+ "Abnormal male external genitalia morphology",
+ "localised reproductive organ",
+ "glandular system",
+ "myocardium",
+ "external ear",
+ "decreased length of bone of appendage girdle complex",
+ "bone of appendage girdle complex",
+ "anatomical wall",
+ "closing of the material anatomical entity",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "sensory system",
+ "Scoliosis",
+ "multicellular anatomical structure, curved phenotype",
+ "Almond-shaped palpebral fissure",
+ "response to stimulus phenotype",
+ "Abdominal wall defect",
+ "material anatomical entity physiology phenotype",
+ "Abnormal involuntary eye movements",
+ "Abnormal tracheal morphology",
+ "cerebrospinal fluid",
+ "main body axis",
+ "tissue development",
+ "venous blood vessel",
+ "camera-type eye phenotype",
+ "physiologic nystagmus phenotype",
+ "increased size of the immaterial anatomical entity",
+ "manus",
+ "chemosensory system",
+ "organ physiology phenotype",
+ "Microphthalmia",
+ "absent anatomical entity in the multicellular organism",
+ "renal system phenotype",
+ "bone marrow cell",
+ "multicellular organism phenotype",
+ "upper limb segment",
+ "biological_process",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "camera-type eye physiology phenotype",
+ "blood vessel morphology phenotype",
+ "zone of skin morphology phenotype",
+ "ganglion",
+ "subdivision of head phenotype",
+ "Abnormality of the curvature of the cornea",
+ "cell",
+ "Abnormality of the mouth",
+ "Finger syndactyly",
+ "lower respiratory tract",
+ "visual system",
+ "uvea morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal system physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "Hypermelanotic macule",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "zone of organ phenotype",
+ "trachea",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Abnormal respiratory system morphology",
+ "Multiple cafe-au-lait spots",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal lens morphology",
+ "simple eye physiology phenotype",
+ "Anal atresia",
"anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
+ "Abnormality of the head",
+ "Abnormal enteric nervous system morphology",
+ "future central nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "fused pedal digit and pedal digit",
+ "ocular surface region morphology phenotype",
+ "decreased length of anatomical structure",
+ "cornea",
+ "abdominal wall",
+ "3-D shape anatomical entity",
+ "external male genitalia",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "orifice",
+ "shape cornea",
+ "multicellular organism development phenotype",
+ "Abnormal eye physiology",
+ "asymmetrically curved anatomical entity",
+ "Dolichocephaly",
+ "common carotid artery plus branches",
+ "drooping eyelid",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "decreased length of bone of pectoral complex",
+ "ventricle of nervous system phenotype",
+ "increased number of anatomical structure",
+ "delayed biological_process",
+ "systemic artery",
+ "organism substance",
+ "Abnormality of body height",
+ "decreased size of the mesoderm-derived structure",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "non-material anatomical boundary",
+ "Abnormality of head or neck",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "lower urinary tract phenotype",
+ "non-connected functional system",
+ "increased number of anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Clinodactyly of the 5th finger",
+ "sense organ",
+ "orbital region",
+ "hypertrophic heart right ventricle",
+ "vasculature phenotype",
+ "Abnormality of the endocrine system",
+ "forelimb",
+ "skeleton of pelvic complex",
+ "anterior segment of eyeball morphology phenotype",
+ "face phenotype",
+ "Abnormal frontal bone morphology",
+ "Abnormality of lower limb joint",
+ "curvature anatomical entity",
+ "increased number of material anatomical entity",
+ "skeletal system",
+ "hindlimb skeleton",
+ "protein-containing material entity",
+ "anatomical entity phenotype",
+ "gamete generation",
+ "organ part phenotype",
+ "male organism",
+ "fused pedal digit and anatomical entity",
+ "Irregular hyperpigmentation",
+ "lateral structure phenotype",
+ "pelvic girdle region",
+ "paired limb/fin segment",
+ "multicellular organism development",
+ "Ventriculomegaly",
+ "urethra",
+ "thoracic segment organ",
+ "Astigmatism",
+ "Abnormal carotid artery morphology",
+ "anterior region of body",
+ "Abnormal reproductive system morphology",
+ "lateral structure physiology phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "upper leg bone",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "asymmetrically curved cornea",
+ "decreased qualitatively reproductive process",
+ "dermal skeletal element phenotype",
+ "neural crest-derived structure",
+ "incomplete closing of the interatrial septum",
+ "epithelial tube formation",
+ "digestive system element phenotype",
+ "brain ventricle morphology phenotype",
+ "Abnormal umbilicus morphology",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormal joint morphology",
+ "transudate",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "multi cell part structure",
+ "vein",
+ "limb long bone morphology phenotype",
+ "bodily fluid",
+ "multi-tissue structure",
+ "facial skeleton morphology phenotype",
+ "limb long bone phenotype",
+ "All",
+ "Abnormal bone structure",
+ "naris phenotype",
+ "lens of camera-type eye morphology phenotype",
+ "nervous system phenotype",
+ "postcranial axial skeletal system",
+ "Clubbing of toes",
+ "arterial system",
+ "bone of pelvic complex morphology phenotype",
+ "kidney morphology phenotype",
+ "dorsum",
+ "nervous system development",
+ "tube formation phenotype",
+ "peripheral nervous system phenotype",
+ "tissue",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
+ "brain ventricle",
+ "future nervous system",
+ "regional part of nervous system phenotype",
+ "Reduced bone mineral density",
+ "circulatory system",
+ "Spina bifida",
+ "embryo development ending in birth or egg hatching",
+ "epithelial tube morphogenesis",
+ "morphogenesis of an epithelium",
+ "appendicular skeleton",
+ "spinal cord",
+ "Abnormal facial skeleton morphology",
+ "multi organ part structure",
+ "increased length of the anatomical line between pupils",
+ "manual digit 1 phalanx",
+ "orifice phenotype",
+ "neocortex morphology phenotype",
+ "gamete",
+ "upper jaw region",
+ "palpebral fissure phenotype",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
+ "Abnormal bone ossification",
+ "Abnormal testis morphology",
+ "deviation of anatomical entity towards the middle",
+ "Abnormal eyelid morphology",
+ "palpebral fissure",
+ "female reproductive organ",
+ "ocular adnexa",
+ "opaque lens of camera-type eye",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "lens of camera-type eye phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "transparent eye structure phenotype",
+ "Cataract",
+ "heart right ventricle",
+ "increased size of the anatomical entity",
+ "lens of camera-type eye",
+ "Atrial septal defect",
+ "drooping anatomical entity",
+ "eyelid phenotype",
+ "large intestine",
+ "Ptosis",
+ "Abnormal cornea morphology",
+ "gland",
+ "clavate digit",
+ "decreased size of the anatomical structure",
+ "shape eyelid",
+ "decreased qualitatively sensory perception",
+ "incomplete closing of the multicellular anatomical structure",
+ "Hydrocephalus",
+ "telencephalon morphology phenotype",
+ "hindlimb morphology phenotype",
+ "anatomical projection",
+ "number of hematopoietic cell phenotype",
+ "Eumetazoa",
+ "phalanx morphology phenotype",
+ "Eukaryota",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "forebrain morphology phenotype",
+ "root",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormality of the male genitalia",
+ "increased size of the organ part",
+ "cellular organisms",
+ "size of skull phenotype",
+ "increased length of the multicellular anatomical structure",
+ "Bicornuate uterus",
+ "regional part of brain phenotype",
+ "limb long bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "size of anatomical entity phenotype",
+ "female reproductive system morphology phenotype",
+ "telencephalon",
+ "cranial skeletal system",
+ "nose",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "tube closure",
+ "ocular adnexa phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autonomic nervous system phenotype",
+ "Abnormality of the abdominal organs",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "Deviation of the 5th finger",
+ "regional part of brain",
+ "regional part of nervous system",
+ "interventricular septum",
+ "increased length of the anatomical line",
+ "ganglion of peripheral nervous system morphology phenotype",
+ "Abnormal midface morphology",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
+ "oral cavity",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "testis",
+ "left cardiac chamber",
+ "Aplasia/Hypoplasia of the testes",
+ "Abnormality of the testis size",
+ "gonad",
+ "palatine uvula morphology phenotype",
+ "Decreased anatomical entity mass density",
+ "embryo",
+ "Absent testis",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "decreased length of forelimb bone",
+ "long bone phenotype",
+ "Abnormality of the outer ear",
+ "number of myeloid cell phenotype",
+ "absent germ cell",
+ "ear morphology phenotype",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "vestibulo-auditory system",
+ "anterior uvea",
"Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
+ "external ear phenotype",
+ "Abnormal cerebral cortex morphology",
+ "forebrain",
+ "increased qualitatively biological_process",
+ "increased size of the non-material anatomical boundary",
+ "incomplete closing of the organ",
+ "Abnormal pinna morphology",
+ "Abnormal ear morphology",
+ "ear",
+ "artery morphology phenotype",
+ "developmental process involved in reproduction phenotype",
+ "male reproductive organ physiology phenotype",
+ "internal male genitalia",
+ "anatomical entity morphology in the brain phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "multi organ part structure phenotype",
+ "increased size of the ventricle of nervous system",
+ "epicanthal fold",
+ "hindlimb long bone",
+ "decreased length of multicellular anatomical structure",
+ "abdomen element phenotype",
+ "increased size of the organ component layer",
+ "Abnormal nasal morphology",
+ "internal male genitalia physiology phenotype",
+ "duodenum morphology phenotype",
+ "Abnormality of the nervous system",
+ "pedal digit digitopodial skeleton",
+ "paralysed cranial nerve",
+ "increased size of the ectoderm-derived structure",
+ "abdomen element physiology phenotype",
+ "increased length of the zone of organ",
+ "absent anatomical structure",
+ "trunk",
+ "manual digit 5 plus metapodial segment",
+ "female reproductive system phenotype",
+ "zone of organ",
+ "skull phenotype",
+ "increased size of the brain ventricle",
+ "increased size of the multicellular anatomical structure",
+ "visual perception phenotype",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "digestive system morphology phenotype",
+ "exocrine gland phenotype",
+ "Decreased fertility",
"Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
+ "exocrine system",
+ "decreased length of forelimb endochondral element",
+ "intromittent organ",
+ "respiratory system morphology phenotype",
+ "gland phenotype",
+ "Abnormality of the liver",
+ "fused anatomical entity and manual digit",
+ "incomplete closing of the roof of mouth",
+ "liver",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Visual impairment",
+ "ulna",
+ "deviation of manual digit towards the middle",
+ "abdomen",
+ "trunk region element phenotype",
+ "Conotruncal defect",
+ "digestive system gland",
+ "musculoskeletal system",
+ "abdominal segment element",
+ "gonad phenotype",
+ "internal ear phenotype",
+ "liver phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "gamete generation phenotype",
+ "subdivision of skeletal system",
+ "hepatobiliary system",
+ "male germ cell",
+ "Aplasia/Hypoplasia of the uvula",
+ "behavior process",
+ "cardiovascular system morphology phenotype",
+ "anterior chamber of eyeball",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "increased size of the right cardiac chamber",
+ "hypothalamus-pituitary axis phenotype",
+ "posterior nasal aperture phenotype",
+ "hypothalamus-pituitary axis",
+ "Abnormal reflex",
+ "hindlimb joint",
+ "anatomical line phenotype",
+ "penis",
+ "increased size of the anatomical line",
+ "tube phenotype",
+ "Hypertelorism",
+ "increased length of the anatomical entity",
+ "anatomical line",
+ "immaterial anatomical entity phenotype",
+ "non-material anatomical boundary phenotype",
+ "increased length of the immaterial anatomical entity",
+ "Decreased multicellular organism mass",
+ "Aplasia/Hypoplasia of the ulna",
+ "intestine",
+ "ectoderm-derived structure phenotype",
+ "immaterial anatomical entity",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "location of eyeball of camera-type eye phenotype",
+ "decreased size of the sense organ",
+ "vessel",
+ "spermatogenesis phenotype",
+ "anatomical entity atresia",
+ "Abnormal spermatogenesis",
+ "absent material anatomical entity in the multicellular organism",
+ "morphogenesis of embryonic epithelium",
+ "haploid cell",
+ "germ line cell",
+ "Cafe-au-lait spot",
+ "gamete phenotype",
+ "absent material anatomical entity",
+ "spermatogenesis",
+ "internal naris",
+ "sperm",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "decreased qualitatively developmental process",
+ "reproductive process phenotype",
+ "male gamete",
+ "prepuce of penis morphology phenotype",
+ "absent gamete",
+ "decreased sensory perception of mechanical stimulus",
+ "iris",
+ "integumental system",
+ "semen",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "decreased gamete generation",
+ "absent anatomical entity in the semen",
+ "subdivision of skeleton phenotype",
+ "male reproductive system physiology phenotype",
+ "conceptus",
+ "decreased multicellular organismal reproductive process",
+ "Abnormal cellular phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "absent anatomical entity",
+ "internal genitalia",
+ "skeleton of pes",
+ "pes morphology phenotype",
+ "organ part morphology in the heart phenotype",
+ "reproduction",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
+ "epithelium",
+ "autopodial skeleton",
+ "outflow tract of ventricle",
+ "increased size of the brain ventricle/choroid plexus",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "Abnormality of the palpebral fissures",
+ "obsolete multicellular organism reproduction",
+ "decreased developmental process",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "multicellular organismal reproductive process phenotype",
+ "Abnormality of the nose",
+ "developmental process involved in reproduction",
+ "sexual reproduction",
+ "male gamete generation",
+ "fused anatomical entity and digit",
+ "hematopoietic system phenotype",
+ "small intestine morphology phenotype",
+ "small intestine",
+ "cavitated compound organ",
+ "Abnormal duodenum morphology",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "Abnormal foot morphology",
+ "Duodenal stenosis",
+ "testis phenotype",
+ "Abnormality of movement",
+ "intestine morphology phenotype",
+ "subdivision of tube phenotype",
+ "increased length of the skin of head",
+ "Azoospermia",
+ "Abnormal small intestine morphology",
+ "clavate anatomical entity",
+ "Hydroureter",
+ "membrane bone phenotype",
+ "Abnormal uterus morphology",
+ "myocardium phenotype",
+ "Abnormal oral morphology",
+ "Choanal atresia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
"continuant",
+ "hindlimb",
+ "Functional abnormality of the inner ear",
+ "pedal digit",
+ "leg",
+ "neoplasm phenotype",
+ "phalanx of pes",
+ "cardiac valve morphology phenotype",
+ "orifice atresia",
+ "digitopodium bone",
+ "phalanx",
+ "Abnormality of the lower limb",
+ "jaw skeleton",
+ "exocrine gland",
+ "hindlimb bone",
+ "phalanx endochondral element",
+ "skeleton of pedal digitopodium",
+ "skeleton of pedal acropodium",
+ "vertebral centrum element",
+ "pelvic appendage skeleton",
+ "pes",
+ "segment of pes",
+ "voluntary movement behavior",
+ "Renal hypoplasia/aplasia",
+ "localised reproductive structure",
+ "digitopodium region",
+ "fused manual digit and manual digit",
+ "pedal digitopodium region",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "lower limb segment",
+ "increased length of the anatomical structure",
+ "pedal digitopodium bone",
+ "prepuce of penis",
+ "concave 3-D shape anatomical entity",
+ "digit morphology phenotype",
+ "pelvic complex",
+ "duodenum",
+ "formed organ subunit",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "joint of girdle morphology phenotype",
+ "Proptosis",
+ "hindlimb stylopod",
+ "lower limb segment phenotype",
+ "pelvic girdle skeleton",
+ "pedal digit morphology phenotype",
+ "posterior region of body",
+ "Abnormal lower limb bone morphology",
+ "incomplete closing of the arch of centrum of vertebra",
+ "renal/urinary system phenotype",
+ "Abnormality of the upper urinary tract",
+ "radius endochondral element",
+ "skin of face morphology phenotype",
+ "Abnormal renal morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal cardiovascular system morphology",
+ "Abnormal ocular adnexa morphology",
+ "cavitated compound organ phenotype",
+ "Abnormal localization of kidney",
+ "Ocular anterior segment dysgenesis",
+ "Abnormal anus morphology",
"compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
+ "decreased functionality of the reproductive organ",
+ "Abnormality of the female genitalia",
+ "cardiac ventricle morphology phenotype",
+ "renal system morphology phenotype",
+ "male reproductive system morphology phenotype",
+ "orbital region phenotype",
+ "Abnormality of the kidney",
+ "neural tube closure phenotype",
+ "kidney",
+ "mouth",
+ "Aplasia/Hypoplasia of the iris",
+ "midface morphology phenotype",
+ "oral cavity morphology phenotype",
+ "morphological feature phenotype",
+ "myocardium morphology phenotype",
+ "incomplete closing of the anatomical structure",
+ "Abnormal oral cavity morphology",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal aortic valve morphology",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "soft palate",
+ "soft palate morphology phenotype",
+ "Abnormal soft palate morphology",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "malformed anatomical entity",
"subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
+ "formed anterior chamber of eyeball",
+ "Abnormal hip joint morphology",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "fused digit and digit",
+ "decreased length of organ",
+ "formed multicellular anatomical structure",
+ "iris phenotype",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "formed anatomical structure",
+ "formed material anatomical entity",
+ "decreased length of mesoderm-derived structure",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "palatine uvula phenotype",
+ "Joint dislocation",
+ "Abnormal uvea morphology",
+ "Abnormality iris morphology",
+ "circulatory organ",
+ "uvea",
+ "anatomical collection",
+ "Macule",
+ "increased biological_process in skin of body",
+ "posterior nasal aperture atresia",
+ "cerebral hemisphere morphology phenotype",
+ "Hypospadias",
+ "fused manual digit and anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "musculature",
+ "Localized skin lesion",
+ "Abnormal 5th finger morphology",
+ "Abnormal thumb morphology",
+ "aplasia or hypoplasia of ulna",
+ "Abnormal size of the palpebral fissures",
+ "autopod region phenotype",
+ "Finger clinodactyly",
+ "anatomical entity morphology in the manus phenotype",
+ "manual digit",
+ "skeleton phenotype",
+ "manus morphology phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "Abnormality of the hand",
+ "bone of hip region",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "amniotic fluid",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "neural crest-derived structure phenotype",
+ "manual digit morphology in the manus phenotype",
+ "decreased pigmentation in skin of body",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia involving the skeleton",
+ "fused digit and anatomical entity",
"anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
- "skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
+ "pelvic girdle bone/zone",
+ "eye movement phenotype",
+ "respiratory system phenotype",
+ "Abnormality of bone mineral density",
+ "brain ventricle/choroid plexus phenotype",
+ "bone element mass density phenotype",
+ "biogenic amine secreting cell",
"ossification",
- "carbohydrate",
- "skeletal system"
+ "Abnormality of the hypothalamus-pituitary axis",
+ "deviation of anatomical entity",
+ "digit 1 or 5",
+ "cranial nerve related reflex",
+ "manual digit 5 morphology phenotype",
+ "manual digit 5",
+ "spatial pattern of anatomical entity phenotype",
+ "digit 1 or 5 phenotype",
+ "digit 5 plus metapodial segment",
+ "digestive system",
+ "decreased length of endochondral bone",
+ "Deviation of the hand or of fingers of the hand",
+ "appendicular skeletal system",
+ "deviation of manual digit 5",
+ "deviation of manual digit",
+ "decreased functionality of the organ part",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "ulna phenotype",
+ "increased height of the secondary palate",
+ "Tetralogy of Fallot",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "genitourinary system",
+ "Limb undergrowth",
+ "decreased size of the forelimb endochondral element",
+ "cardiac ventricle morphology in the heart phenotype",
+ "decreased size of the anatomical entity",
+ "Upper limb undergrowth",
+ "decreased length of material anatomical entity",
+ "decreased length of skeletal element",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the endochondral bone",
+ "Hematological neoplasm",
+ "decreased size of the organ",
+ "ulna hypoplasia",
+ "head bone phenotype",
+ "decreased size of the bone of pectoral complex",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "decreased size of the bone of free limb or fin",
+ "increased response to external stimulus",
+ "forelimb zeugopod bone hypoplasia",
+ "forelimb long bone phenotype",
+ "paired limb/fin skeleton",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "Hypoplasia of the ulna",
+ "decreased size of the bone element",
+ "Short forearm",
+ "decreased length of limb endochondral element",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased size of the bone of appendage girdle complex",
+ "increased length of the zone of skin",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Cardiomyopathy",
+ "flat bone",
+ "pelvic region element",
+ "Hyperpigmentation of the skin",
+ "limb joint",
+ "anatomical conduit atresia",
+ "joint of girdle",
+ "manus phenotype",
+ "hindlimb joint phenotype",
+ "zone of bone organ",
+ "skeletal joint",
+ "articulation phenotype",
+ "Micrognathia",
+ "anatomical entity dislocation",
+ "skeletal joint dislocation"
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 106,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
+ "name": "Fanconi anemia complementation group O",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
"xref": [
- "DOID:0111080",
- "GARD:16213",
- "MEDGEN:934619",
- "OMIM:617243",
- "UMLS:C4310652"
+ "DOID:0111096",
+ "GARD:15656",
+ "MEDGEN:462003",
+ "OMIM:613390",
+ "UMLS:C3150653"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia"
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
- "HP:0001873",
- "HP:0005528",
- "HP:0006254",
- "HP:0003221",
- "HP:0001903",
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0001245",
+ "HP:0003774",
+ "HP:0002984",
+ "HP:0000126",
+ "HP:0000028",
+ "HP:0009778",
+ "HP:0009623",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0003241",
"HP:0004322",
- "HP:0000252"
- ],
- "has_phenotype_label": [
- "Neutropenia",
- "Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
- "Anemia",
+ "HP:0002023",
+ "HP:0025023"
+ ],
+ "has_phenotype_label": [
+ "Absent thumb",
+ "Chromosome breakage",
+ "Small thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "Hypoplasia of the radius",
+ "Hydronephrosis",
+ "Cryptorchidism",
+ "Short thumb",
+ "Proximal placement of thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
"Short stature",
- "Microcephaly"
+ "Anal atresia",
+ "Rectal atresia"
],
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "UBERON:0000475",
- "UPHENO:0002926",
- "UPHENO:0002844",
- "UPHENO:0002736",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0080200",
- "UPHENO:0086589",
- "UPHENO:0004704",
- "HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
- "UBERON:0011676",
+ "UBERON:0013522",
+ "UPHENO:0063629",
+ "UPHENO:0002994",
+ "UBERON:0013765",
+ "UPHENO:0074310",
+ "UPHENO:0076735",
+ "HP:0002589",
+ "UPHENO:0074311",
+ "UPHENO:0076783",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UBERON:0001353",
"NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
- "UBERON:0005944",
- "UBERON:0011138",
- "UPHENO:0004521",
- "UBERON:0010314",
- "HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
- "UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
- "HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
+ "UPHENO:0002714",
+ "HP:0002242",
+ "UPHENO:0063615",
+ "HP:0012732",
+ "UPHENO:0076773",
+ "UBERON:0000059",
+ "HP:0002034",
"UBERON:0000481",
- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0080351",
- "CL:0000458",
- "CHEBI:33675",
- "UBERON:0010912",
- "CL:0000151",
- "UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
+ "NCBITaxon:1",
+ "HP:0012718",
+ "UPHENO:0063563",
+ "UBERON:0000160",
+ "UBERON:0006866",
+ "UBERON:0001052",
+ "HP:0011100",
+ "UPHENO:0002725",
+ "UPHENO:0063577",
+ "HP:0004378",
+ "UPHENO:0002548",
+ "UPHENO:0074227",
+ "HP:0034915",
+ "UBERON:0000025",
+ "UPHENO:0076803",
+ "UPHENO:0063594",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "HP:0025033",
+ "UPHENO:0002833",
+ "UPHENO:0074230",
+ "UPHENO:0074245",
+ "UBERON:0001555",
+ "UPHENO:0063562",
+ "UPHENO:0074237",
+ "UPHENO:0000543",
+ "HP:0001507",
+ "HP:0003011",
+ "UBERON:0001630",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "HP:0011425",
+ "UBERON:0008837",
+ "HP:0002250",
+ "UBERON:0034929",
+ "UPHENO:0002655",
+ "HP:0040070",
+ "UPHENO:0050784",
+ "GO:0008150",
+ "UPHENO:0081424",
+ "UPHENO:0003049",
+ "GO:0010558",
+ "HP:0009821",
+ "UPHENO:0004518",
"UPHENO:0049642",
- "HP:0010974",
- "UBERON:0002405",
- "UPHENO:0004503",
+ "UPHENO:0046472",
+ "GO:0009889",
+ "HP:0030680",
+ "NCBITaxon:33208",
+ "HP:0011017",
+ "UPHENO:0002976",
"UPHENO:0050025",
- "UPHENO:0063787",
- "UBERON:0000062",
- "HP:0002060",
- "UBERON:0001062",
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- "CL:0000329",
- "CL:0000764",
- "HP:0001507",
- "UPHENO:0002553",
+ "UBERON:0000990",
+ "UPHENO:0063575",
+ "UBERON:0004176",
+ "UPHENO:0053561",
+ "HP:0012243",
+ "UBERON:0005156",
+ "HP:0000032",
+ "UPHENO:0011498",
+ "UBERON:0004381",
+ "UPHENO:0046624",
+ "HP:0009381",
+ "HP:0011927",
+ "UBERON:0012141",
+ "UPHENO:0046740",
+ "UBERON:0000991",
+ "UPHENO:0046750",
+ "UPHENO:0046426",
+ "UPHENO:0046741",
+ "UPHENO:0069236",
+ "UPHENO:0046411",
+ "UPHENO:0080369",
+ "UBERON:0014793",
+ "UPHENO:3000004",
+ "HP:0009603",
+ "UPHENO:0003093",
+ "HP:0009484",
+ "UPHENO:0084829",
+ "UPHENO:0005016",
+ "UBERON:0007100",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0004535",
+ "UBERON:0004288",
+ "UPHENO:0002830",
+ "UPHENO:0046405",
+ "UBERON:0015228",
+ "UBERON:0015410",
+ "UPHENO:0050065",
+ "UBERON:0000915",
+ "UPHENO:0075949",
+ "MPATH:0",
+ "MPATH:603",
"UPHENO:0049874",
- "HP:0004322",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0069062",
- "UPHENO:0075195",
- "UPHENO:0069327",
- "CL:0000766",
- "HP:0000002"
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0000541",
+ "UPHENO:0080351"
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
+ "Opisthokonta",
+ "Anorectal anomaly",
+ "rectum morphology phenotype",
+ "Abnormal intestine morphology",
+ "Rectal atresia",
+ "closing of the organ part",
+ "intestine morphology phenotype",
+ "intestine atresia",
+ "anatomical system atresia",
+ "subdivision of digestive tract atresia",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "rectum atresia",
+ "organism",
+ "digestive system element",
+ "internal anal region",
"cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
+ "Abnormal gastrointestinal tract morphology",
+ "organ part atresia",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
"Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
+ "alimentary part of gastrointestinal system",
+ "alimentary part of gastrointestinal system atresia",
+ "anus",
+ "material anatomical entity atresia",
+ "closing of the anatomical structure",
+ "digestive system phenotype",
+ "digestive tract",
+ "closing of the anatomical conduit",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "Abnormal anus morphology",
+ "ectoderm-derived structure phenotype",
+ "orifice",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "orifice phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal digestive system morphology",
"root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "Abnormality of the digestive system",
+ "closing of the ectoderm-derived structure",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "palmar/plantar part of autopod",
+ "anal region",
+ "muscle structure",
+ "large intestine",
+ "material anatomical entity",
+ "Abnormal skeletal muscle morphology",
+ "arm phenotype",
+ "thoracic cavity element",
+ "pectoral appendage musculature",
+ "musculature of upper limb",
+ "regulation of cellular metabolic process",
+ "subdivision of tube phenotype",
+ "musculature of limb phenotype",
+ "independent continuant",
+ "subdivision of skeletal system",
+ "entity",
+ "forelimb zeugopod bone morphology phenotype",
+ "autopod region morphology phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "reproductive system",
+ "muscle organ",
+ "musculature of pectoral complex",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "cell phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "cell",
+ "Abnormality of the upper limb",
+ "skeletal element",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "zeugopod",
+ "regulation of biosynthetic process phenotype",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Abnormality of chromosome stability",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "increased size of the renal pelvis",
+ "homeostatic process",
+ "appendage girdle complex",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
"organ phenotype",
+ "decreased length of manual digit",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "dilated renal pelvis",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "localised testis",
+ "musculoskeletal system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "decreased length of endochondral bone",
"Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
- "regional part of brain",
- "central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
"Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Abnormality of the urinary system physiology",
+ "bone element phenotype",
+ "pectoral complex",
+ "multi-limb segment region phenotype",
+ "regulation of macromolecule metabolic process",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "closing of the subdivision of tube",
+ "skeleton of limb",
"negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
+ "decreased size of the autopodial extension",
+ "musculature of manus",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "orifice atresia",
+ "appendicular skeleton",
+ "upper limb segment",
+ "external soft tissue zone phenotype",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "embryo phenotype",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "Anal atresia",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "thenar eminence hypoplasia",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "palmar part of manus",
+ "Abnormal large intestine morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "trunk region element physiology phenotype",
+ "male reproductive organ phenotype",
+ "autopodial extension phenotype",
+ "manual digit",
+ "Abnormal cardiovascular system morphology",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "late embryo phenotype",
+ "regulation of cellular process phenotype",
+ "forelimb zeugopod",
+ "Abnormal appendicular skeleton morphology",
+ "multicellular organism",
+ "regulation of macromolecule biosynthetic process",
+ "muscle organ morphology phenotype",
+ "autopod region phenotype",
"material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "Hypoplasia of the radius",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "regulation of biological process",
+ "digit 1 phenotype",
+ "lateral structure",
+ "mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "closing of the multicellular anatomical structure",
+ "organ system subdivision",
+ "thenar eminence phenotype",
+ "musculature",
+ "Abnormality of the thenar eminence",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical conduit phenotype",
+ "taxon specific phenotype",
+ "Abnormal rectum morphology",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "musculature of limb",
+ "Abnormal cellular physiology",
+ "cardiovascular system",
+ "male reproductive system phenotype",
+ "aplastic manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "lower digestive tract",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of digestive tract",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "renal pelvis",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "system",
+ "regulation of gene expression phenotype",
+ "bone of appendage girdle complex phenotype",
+ "Abnormality of prenatal development or birth",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "forelimb skeleton",
+ "genitourinary system",
+ "renal pelvis phenotype",
+ "anatomical entity",
"phenotypic effect",
- "number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
+ "size of anatomical entity phenotype",
+ "Proximal placement of thumb",
+ "alimentary part of gastrointestinal system phenotype",
+ "pectoral appendage skeleton",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "manus",
+ "thenar eminence",
+ "Abnormality of limbs",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "multicellular organism morphology phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the musculature of the limbs",
+ "anatomical structure physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical conduit atresia",
+ "Deviation of finger",
+ "Abnormality of the skeletal system",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "Abnormal renal pelvis morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "Short stature",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "Abnormality of the musculature",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "thoracic segment of trunk",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent organism subdivision",
+ "autopod region",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "decreased length of mesoderm-derived structure",
"negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
+ "abdominal segment element",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Deviation of the thumb",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "absent anatomical entity",
+ "process",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
"biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
+ "intestine phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "limb segment phenotype",
+ "digit 1 or 5 phenotype",
+ "digestive system",
+ "anatomical entity morphology phenotype",
+ "obsolete cell",
+ "decreased length of long bone",
+ "programmed DNA elimination",
+ "spatial pattern of anatomical entity phenotype",
+ "subdivision of tube atresia",
+ "multi-limb segment region",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "musculature of pectoral complex phenotype",
+ "decreased length of anatomical structure",
+ "musculature of manus phenotype",
+ "trunk",
+ "Abnormality of the musculature of the hand",
+ "appendage musculature",
+ "manus morphology phenotype",
+ "musculature of upper limb phenotype",
+ "Abnormality of the musculature of the upper limbs",
+ "compound organ physiology phenotype",
+ "Small thenar eminence",
+ "abdomen element physiology phenotype",
+ "pectoral appendage musculature phenotype",
+ "digit 1 plus metapodial segment",
+ "Abnormal renal physiology",
+ "Intestinal atresia",
+ "arm bone",
+ "kidney physiology phenotype",
+ "radius endochondral element",
+ "anatomical system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "localised anatomical structure",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "cavitated compound organ physiology phenotype",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "Chronic kidney disease",
+ "renal system phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "body proper",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "male organism",
+ "renal system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "Renal insufficiency",
+ "Abnormality of the kidney",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the cardiovascular system",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "absent autopodial extension",
+ "Fetal ultrasound soft marker",
+ "closing of the material anatomical entity",
+ "circulatory system",
"subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "lateral structure physiology phenotype",
+ "renal system",
+ "digestive system morphology phenotype",
+ "Abnormality of the urinary system",
+ "renal/urinary system phenotype",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "upper urinary tract phenotype",
+ "decreased length of digit 1 or 5",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "testis phenotype",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "structure with developmental contribution from neural crest",
+ "Abnormality of the hand",
+ "radius bone",
+ "heart",
+ "Limb undergrowth",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
"decreased size of the material anatomical entity",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "Hydronephrosis",
+ "decreased length of organism subdivision",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormal testis morphology",
+ "cardiovascular system phenotype",
+ "decreased size of the bone of free limb or fin",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased size of the limb bone",
"multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
+ "limb long bone phenotype",
+ "forelimb zeugopod bone",
+ "decreased length of manual digit 1 or 5",
+ "decreased length of multicellular anatomical structure",
+ "kidney",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "appendage musculature phenotype",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "bone of pectoral complex morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "organ",
+ "decreased size of the anatomical structure",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased size of the endochondral element",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "deviation of anatomical entity",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "increased size of the anatomical structure",
+ "primary circulatory organ",
+ "localised organ",
+ "thoracic segment organ",
+ "renal pelvis/ureter",
"phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
+ "Fetal pyelectasis",
+ "embryonic development/birth phenotype",
+ "Abnormal fetal genitourinary system morphology",
+ "organ part",
+ "external genitalia phenotype",
"multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "Abnormal renal morphology",
+ "increased size of the organ part",
+ "Fetal anomaly",
+ "renal pelvis morphology phenotype",
+ "anatomical cluster",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "decreased length of digit",
+ "anatomical conduit",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Dilatation of the renal pelvis",
+ "Gastrointestinal atresia",
+ "late embryo",
+ "limb",
+ "increased size of the anatomical entity",
+ "increased size of the material anatomical entity",
"biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
- "oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
- "erythroid lineage cell",
+ "genitourinary system phenotype",
+ "dilated anatomical entity",
+ "embryo",
+ "increased size of the anatomical conduit",
+ "anus atresia",
+ "Short long bone",
+ "reproductive organ",
+ "Abnormal fetal morphology",
+ "increased size of the multicellular anatomical structure",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the genital system",
+ "testis",
+ "large intestine morphology phenotype",
+ "localised reproductive structure",
+ "reproductive system phenotype",
+ "Cryptorchidism",
+ "heart plus pericardium",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "reproductive structure phenotype",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "external genitalia",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "gonad phenotype",
+ "reproductive structure",
"decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
+ "localised anatomical entity",
+ "external male genitalia phenotype",
+ "decreased size of the organism subdivision",
+ "anterior region of body",
+ "decreased length of manual digit 1",
+ "rectum phenotype",
+ "paired limb/fin",
+ "decreased size of the digit",
+ "Short thumb",
+ "Short digit",
+ "decreased size of the forelimb bone",
+ "deviation of manual digit 1",
+ "Abnormal morphology of the radius",
+ "Deviation of the hand or of fingers of the hand",
+ "deviation of manual digit",
"Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth"
+ "cardiovascular system morphology phenotype",
+ "decreased size of the skeletal element",
+ "reproductive organ phenotype",
+ "viscus",
+ "circulatory organ",
+ "heart morphology phenotype",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "tube",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "arm bone phenotype",
+ "delayed growth",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased size of the multicellular organism",
+ "regulation of cellular process",
+ "decreased height of the anatomical entity",
+ "growth phenotype",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth"
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0012565",
+ "id": "MONDO:0013499",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group N",
+ "name": "Fanconi anemia complementation group P",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
"xref": [
- "DOID:0111094",
- "GARD:15500",
- "MEDGEN:372133",
- "MESH:C563657",
- "OMIM:610832",
- "UMLS:C1835817"
+ "DOID:0111092",
+ "GARD:15731",
+ "MEDGEN:854020",
+ "OMIM:613951",
+ "UMLS:C3469542"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCN",
- "Fanconi Anemia, complementation group type N",
- "Fanconi anaemia caused by mutation in PALB2",
- "Fanconi anaemia complementation group type N",
- "Fanconi anemia caused by mutation in PALB2",
- "Fanconi anemia complementation group N",
- "Fanconi anemia complementation group type N",
- "Fanconi anemia, complementation group N",
- "PALB2 Fanconi anaemia",
- "PALB2 Fanconi anemia"
+ "FANCP",
+ "Fanconi Anemia, complementation group type P",
+ "Fanconi anaemia caused by mutation in SLX4",
+ "Fanconi anaemia caused by mutation in Slx4",
+ "Fanconi anaemia complementation group type P",
+ "Fanconi anemia caused by mutation in SLX4",
+ "Fanconi anemia caused by mutation in Slx4",
+ "Fanconi anemia complementation group type P",
+ "Fanconi anemia, complementation group P",
+ "SLX4 Fanconi anaemia",
+ "SLX4 Fanconi anemia",
+ "Slx4 Fanconi anaemia",
+ "Slx4 Fanconi anemia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0009777",
+ "HP:0002860",
+ "HP:0000252",
"HP:0002984",
- "HP:0002885",
- "HP:0001631",
+ "HP:0000581",
+ "HP:0001876",
+ "HP:0000347",
+ "HP:0000028",
"HP:0009778",
+ "HP:0001510",
"HP:0000125",
- "HP:0002667",
- "HP:0009777",
- "HP:0000568",
- "HP:0004808",
- "HP:0001518",
- "HP:0001915",
- "HP:0000470",
+ "HP:0000414",
+ "HP:0000957",
+ "HP:0001903",
+ "HP:0012745",
+ "HP:0000085",
"HP:0003221",
- "HP:0000252",
- "HP:0003006",
- "HP:0008897",
- "HP:0000953",
- "HP:0000316",
+ "HP:0004322",
+ "HP:0000365",
+ "HP:0001045"
+ ],
+ "has_phenotype_label": [
+ "Absent thumb",
+ "Squamous cell carcinoma",
+ "Microcephaly",
+ "Hypoplasia of the radius",
+ "Blepharophimosis",
+ "Pancytopenia",
+ "Micrognathia",
+ "Cryptorchidism",
+ "Short thumb",
+ "Growth delay",
+ "Pelvic kidney",
+ "Bulbous nose",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Short palpebral fissure",
+ "Horseshoe kidney",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Short stature",
+ "Hearing impairment",
+ "Vitiligo"
+ ],
+ "has_phenotype_closure": [
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- "HP:0002023",
- "HP:0000286"
- ],
- "has_phenotype_label": [
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- "Medulloblastoma",
- "Atrial septal defect",
- "Short thumb",
- "Pelvic kidney",
- "Nephroblastoma",
- "Absent thumb",
- "Microphthalmia",
- "Acute myeloid leukemia",
- "Small for gestational age",
- "Aplastic anemia",
- "Short neck",
- "Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Neuroblastoma",
- "Postnatal growth retardation",
- "Hyperpigmentation of the skin",
- "Hypertelorism",
- "Cafe-au-lait spot",
- "Ventricular septal defect",
- "Horseshoe kidney",
- "Ectopic kidney",
- "Unilateral renal agenesis",
- "Anal atresia",
- "Epicanthus"
- ],
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+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "multicellular anatomical structure physiology phenotype",
+ "ear physiology phenotype",
+ "vestibulo-auditory system",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
+ "nervous system process",
+ "Hearing impairment",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
+ "size of multicellular organism phenotype",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Abnormal cellular physiology",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "3-D shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "shape anatomical entity",
+ "Horseshoe kidney",
+ "decreased size of the anatomical conduit",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased sensory perception",
+ "decreased length of orifice",
+ "erythroid lineage cell morphology phenotype",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "biological_process rate phenotype",
+ "pigmentation",
+ "increased qualitatively biological_process",
+ "Localized skin lesion",
+ "Hypermelanotic macule",
+ "Hyperpigmentation of the skin",
+ "regulation of cellular metabolic process",
+ "pigmentation phenotype",
+ "Cafe-au-lait spot",
+ "Macule",
+ "nose phenotype",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the nose",
+ "nose",
+ "increased size of the organ",
+ "olfactory organ",
+ "immaterial anatomical entity",
+ "external nose morphology phenotype",
+ "increased size of the sense organ",
+ "Abnormal nasal tip morphology",
+ "nose tip morphology phenotype",
+ "increased size of the anatomical structure",
+ "external nose",
+ "increased size of the organism subdivision",
+ "sense organ phenotype",
+ "Abnormality of chromosome stability",
+ "immaterial entity",
+ "increased volume of nose",
+ "Abnormal external nose morphology",
+ "upper urinary tract phenotype",
+ "abdomen element phenotype",
+ "renal system",
+ "excretory system",
+ "trunk",
+ "abdominal segment element",
+ "Abnormality of the kidney",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "compound organ phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "localised trunk region element",
+ "Abnormal localization of kidney",
+ "cavitated compound organ phenotype",
+ "renal system phenotype",
+ "Abnormal renal morphology",
+ "Abnormality of the upper urinary tract",
+ "abdomen element",
+ "process",
+ "occurrent",
+ "growth phenotype",
+ "kidney",
+ "Growth delay",
+ "delayed biological_process",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "decreased length of digit 1",
+ "Short digit",
+ "decreased length of manual digit 1 or 5",
+ "Short thumb",
+ "decreased length of manual digit",
+ "decreased size of the organism subdivision",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "multicellular organism phenotype",
+ "decreased length of anatomical conduit",
+ "external genitalia phenotype",
+ "Abnormal external genitalia",
+ "localised testis",
+ "external male genitalia phenotype",
+ "male reproductive organ phenotype",
+ "Irregular hyperpigmentation",
+ "male organism",
+ "reproductive structure",
+ "localised material anatomical entity",
+ "genitourinary system",
+ "reproductive system",
+ "gonad phenotype",
+ "reproductive system phenotype",
+ "external genitalia",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "localised male reproductive organ",
+ "localised organ",
+ "multicellular organism morphology phenotype",
+ "sensory system",
+ "craniocervical region phenotype",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "Growth abnormality",
+ "axial skeletal system",
+ "head phenotype",
+ "skeleton phenotype",
+ "organism",
+ "Neoplasm of the skin",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "decreased length of bone of pectoral complex",
+ "nose tip",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region",
+ "Abnormal morphology of the radius",
+ "aplasia or hypoplasia of telencephalon",
+ "decreased multicellular organismal process",
+ "root",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "forebrain morphology phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "central nervous system morphology phenotype",
+ "Abnormality of the nervous system",
+ "anatomical conduit phenotype",
+ "postcranial axial skeleton",
+ "number of hematopoietic cell phenotype",
+ "nervous system phenotype",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "anatomical conduit",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "Eumetazoa",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "Neoplasm",
+ "ectoderm-derived structure phenotype",
+ "skin of body phenotype",
+ "negative regulation of metabolic process",
+ "shape kidney",
+ "manual digit 1 or 5",
+ "nervous system morphology phenotype",
+ "digit 1 phenotype",
+ "digit phenotype",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "visual system",
+ "kidney morphology phenotype",
+ "postcranial axial skeletal system",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "subdivision of skeletal system phenotype",
+ "renal system morphology phenotype",
+ "radius bone morphology phenotype",
+ "Abnormal myeloid cell morphology",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "facial skeleton",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "membrane bone phenotype",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "endochondral bone phenotype",
+ "absent material anatomical entity in the limb",
+ "dermal bone",
+ "size of anatomical entity phenotype",
+ "Abnormality of skin pigmentation",
+ "bone of jaw phenotype",
+ "phenotypic effect",
+ "autopod region morphology phenotype",
+ "cellular organisms",
+ "number of cell phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "mouth",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "Bulbous nose",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
+ "anterior region of body",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "decreased number of anatomical structure",
+ "head bone phenotype",
+ "skeleton of pectoral complex",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "decreased length of endochondral bone",
+ "compound organ",
+ "eye",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "decreased size of the palpebral fissure",
+ "cranial skeletal system",
+ "multicellular anatomical structure phenotype",
+ "bone element phenotype",
+ "dermatocranium",
+ "pectoral complex",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "head",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "forebrain",
+ "regional part of brain phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "orbital region phenotype",
+ "skeleton of limb",
+ "skin of body morphology phenotype",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "integument phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "bone marrow cell",
+ "bone of pectoral complex phenotype",
+ "increased size of the ectoderm-derived structure",
+ "localised kidney",
+ "absent anatomical structure",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "appendicular skeleton",
+ "upper limb segment",
+ "arm phenotype",
+ "hematopoietic system",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "anatomical system phenotype",
+ "sense organ",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "skeleton of manus",
+ "musculoskeletal system",
+ "Aplasia/Hypoplasia of facial bones",
+ "phenotype",
+ "Abnormal cell morphology",
+ "head bone morphology phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "autopodial extension phenotype",
+ "manual digit",
+ "subdivision of trunk",
+ "Abnormal thumb morphology",
+ "continuant",
+ "entire sense organ system",
+ "absent material anatomical entity in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "limb segment phenotype",
+ "Abnormal cerebral morphology",
+ "arm bone",
+ "absent organism subdivision in the multicellular organism",
+ "autopod region phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "motile cell",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "Hypoplasia of the radius",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "decreased size of the ectoderm-derived structure",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of the mandible",
+ "mesoderm-derived structure phenotype",
+ "neoplasm phenotype",
+ "aplasia or hypoplasia of mandible",
+ "bone element",
+ "intramembranous bone phenotype",
+ "lateral structure",
+ "Squamous cell carcinoma",
+ "mesoderm-derived structure",
+ "organ system subdivision",
+ "erythrocyte",
+ "musculature",
+ "regional part of brain",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "anatomical entity physiology phenotype",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "forelimb endochondral element",
+ "Abnormality of the skin",
+ "paired limb/fin phenotype",
+ "taxon specific phenotype",
+ "regional part of nervous system phenotype",
+ "skeletal element",
+ "regulation of biosynthetic process phenotype",
+ "zeugopod",
+ "absent manual digit",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "nose morphology phenotype",
+ "Pelvic kidney",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "independent continuant",
+ "facial skeleton morphology phenotype",
+ "aplastic manual digit 1",
+ "dentary",
+ "anatomical entity morphology in the manus phenotype",
+ "segment of autopod",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "limb bone morphology phenotype",
+ "palpebral fissure",
+ "decreased size of the forelimb endochondral element",
+ "bone element hypoplasia in face",
+ "Abnormal forebrain morphology",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "size of skull phenotype",
+ "Abnormal facial skeleton morphology",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone cell",
+ "bone of appendage girdle complex phenotype",
+ "structure with developmental contribution from neural crest",
+ "bone of craniocervical region",
+ "abdomen",
+ "manual digit 1 plus metapodial segment",
+ "dermal skeletal element phenotype",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "Abnormal digit morphology",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "pectoral appendage skeleton",
+ "Vitiligo",
+ "Short palpebral fissure",
+ "decreased size of the limb endochondral element",
+ "acropodium region",
+ "bone marrow",
+ "dermal skeletal element",
+ "subdivision of organism along main body axis",
+ "kidney phenotype",
+ "skeletal system morphology phenotype",
+ "manus",
+ "increased size of the material anatomical entity",
+ "increased size of the anatomical entity",
+ "limb",
+ "Neoplasm by anatomical site",
+ "Abnormality of the upper limb",
+ "Abnormality of limbs",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "body proper",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Microcephaly",
+ "multi-tissue structure phenotype",
+ "Abnormality of the musculoskeletal system",
+ "increased size of the nose",
+ "Abnormal cellular immune system morphology",
+ "absent multicellular anatomical structure in the limb",
+ "digit morphology phenotype",
+ "Abnormality of the ocular adnexa",
+ "decreased number of cell",
+ "Micrognathia",
+ "Abnormal mandible morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "Hypoplastic facial bones",
+ "Abnormal axial skeleton morphology",
+ "erythroid lineage cell",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "absent organism subdivision",
+ "skeleton",
+ "immune system phenotype",
+ "anatomical collection phenotype",
+ "quality",
+ "decreased number of platelet",
+ "organ physiology phenotype",
+ "Abnormal nasal morphology",
+ "absent anatomical entity in the multicellular organism",
+ "absent autopodial extension",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "bone of appendage girdle complex",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "digit 1 plus metapodial segment",
+ "telencephalon morphology phenotype",
+ "integumental system",
+ "absent anatomical entity",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "musculature phenotype",
+ "aplasia or hypoplasia of skull",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "digit 1 or 5 phenotype",
+ "telencephalon",
+ "multi-limb segment region",
+ "regulation of gene expression phenotype",
+ "system",
+ "brain morphology phenotype",
+ "Abnormality of the integument",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "brain",
+ "regional part of nervous system",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "facial bone hypoplasia",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "decreased number of hematopoietic cell",
+ "skeleton of lower jaw",
+ "Abnormal brain morphology",
+ "testis phenotype",
+ "mandible",
+ "location of anatomical entity phenotype",
+ "limb skeleton subdivision",
+ "skull",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "primary subdivision of cranial skeletal system",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "increased biological_process in skin of body",
+ "localised anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "Anemia",
+ "Abnormality of the hand",
+ "radius bone",
+ "Limb undergrowth",
+ "radius endochondral element",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "camera-type eye",
+ "decreased length of skeletal element",
+ "Abnormality of the orbital region",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "forelimb zeugopod",
+ "decreased size of the bone of pectoral complex",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormality of the immune system",
+ "regulation of macromolecule biosynthetic process",
+ "multicellular organism",
+ "Thrombocytopenia",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased length of anatomical structure",
+ "renal/urinary system phenotype",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "axial skeleton plus cranial skeleton",
+ "decreased size of the limb bone",
+ "oxygen accumulating cell",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "decreased length of digit 1 or 5",
+ "hematopoietic cell",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "appendage girdle complex",
+ "subdivision of head",
+ "decreased length of multicellular anatomical structure",
+ "digestive system element",
+ "radius bone phenotype",
+ "Abnormality of the head",
+ "multi organ part structure phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "decreased length of mesoderm-derived structure",
+ "decreased length of forelimb zeugopod bone",
+ "size of palpebral fissure phenotype",
+ "forelimb bone phenotype",
+ "Short forearm",
+ "regulation of cellular biosynthetic process phenotype",
+ "subdivision of digestive tract",
+ "decreased length of material anatomical entity",
+ "neural crest-derived structure",
+ "digestive system element phenotype",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "decreased size of the forelimb bone",
+ "Abnormal size of the palpebral fissures",
+ "delayed growth",
+ "arm bone phenotype",
+ "sensory perception of mechanical stimulus",
+ "skin of body",
+ "Abnormal upper limb bone morphology",
+ "decreased size of the arm bone",
+ "Abnormality of the genitourinary system",
+ "blood cell",
+ "head bone",
+ "decreased size of the bone of appendage girdle complex",
+ "bone of craniocervical region phenotype",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "increased volume of anatomical entity",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "membrane bone",
+ "bone of pectoral complex morphology phenotype",
+ "organ",
+ "decreased size of the anatomical structure",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "olfactory organ phenotype",
+ "reproductive organ",
+ "Short long bone",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "face morphology phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "dermal skeleton",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "multi organ part structure",
+ "multi-limb segment region phenotype",
+ "hemolymphoid system",
+ "male reproductive organ",
+ "disconnected anatomical group",
+ "eyelid morphology phenotype",
+ "orifice phenotype",
+ "palpebral fissure phenotype",
+ "non-connected functional system",
+ "orifice",
+ "decreased size of the endochondral element",
+ "orbital region",
+ "Blepharophimosis",
+ "face phenotype",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the palpebral fissures",
+ "ocular adnexa phenotype",
+ "Abnormal eyelid morphology",
+ "Abnormal ocular adnexa morphology",
+ "decreased system process",
+ "organ part",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "eyelid",
+ "ocular adnexa",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "Abnormality of the face",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "reproductive structure phenotype",
+ "nucleate cell",
+ "eukaryotic cell",
+ "craniofacial/craniocervical phenotype",
+ "serotonin secreting cell",
+ "anatomical point",
+ "decreased number of anatomical entity",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "decreased length of long bone",
+ "anatomical entity morphology phenotype",
+ "digestive system",
+ "platelet",
+ "Ectopic kidney",
+ "immune system morphology phenotype",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
+ "Abnormal cellular phenotype",
+ "integument",
+ "platelet phenotype",
+ "number of myeloid cell phenotype",
+ "number of platelet phenotype",
+ "Abnormal immune system morphology",
+ "decreased number of material anatomical entity",
+ "decreased number of myeloid cell",
+ "decreased size of the multicellular organism",
+ "Abnormality of skull size",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormal bone marrow cell morphology",
+ "digestive system phenotype",
+ "Abnormal platelet count",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "limb bone phenotype",
+ "secretory cell",
+ "hematopoietic system phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "tissue",
+ "leukocyte",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "upper urinary tract",
+ "decreased length of digit",
+ "Abnormality of the male genitalia",
+ "manual digitopodium region",
+ "Abnormality of blood and blood-forming tissues",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "decreased length of organism subdivision",
+ "bone of lower jaw",
+ "mandible hypoplasia",
+ "anatomical structure physiology phenotype",
+ "facial bone phenotype",
+ "Abnormality of the digestive system",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "digestive system morphology phenotype",
+ "decreased size of the autopodial extension",
+ "Abnormal jaw morphology",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "increased size of the olfactory organ",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "cell phenotype",
+ "anatomical entity hypoplasia in face",
+ "skull phenotype",
+ "Abnormal digestive system morphology",
+ "decreased length of limb endochondral element",
+ "dentary phenotype",
+ "jaw skeleton morphology phenotype",
+ "digestive tract",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "bone of jaw",
+ "manus morphology phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "biological_process",
+ "genitourinary system phenotype",
+ "mouth morphology phenotype",
+ "neural crest-derived structure phenotype",
+ "decreased size of the orifice",
+ "immune system",
+ "facial bone",
+ "gonad",
+ "localised gonad",
+ "Upper limb undergrowth",
+ "Abnormality of thrombocytes",
+ "jaw skeleton",
+ "lateral structure phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "mandible phenotype",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "mandible morphology phenotype",
+ "bone of lower jaw phenotype",
+ "Abnormality of body height",
+ "tube",
+ "mouth phenotype",
+ "localised abdominal segment element",
+ "primary subdivision of skull",
+ "absent anatomical structure in the limb",
+ "dermal bone phenotype",
+ "subdivision of tube phenotype",
+ "Abnormal oral morphology",
+ "cell",
+ "Abnormality of the mouth",
+ "lower jaw region",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "jaw region",
+ "localised anatomical structure",
+ "Abnormal reproductive system morphology",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "intramembranous bone",
+ "Abnormality of the genital system",
+ "testis",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "Cryptorchidism",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "male reproductive system"
+ ],
+ "has_phenotype_count": 20,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0024525",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 1",
+ "full_name": null,
+ "deprecated": null,
+ "description": null,
+ "xref": [
+ "DOID:0080757",
+ "MEDGEN:1635492",
+ "OMIM:134600",
+ "UMLS:C4551503"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
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+ "HP:0003126",
+ "HP:0001324"
+ ],
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+ "Osteomalacia",
+ "Metabolic acidosis",
+ "Lacticaciduria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Hypokalemia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness"
+ ],
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+ ],
+ "has_phenotype_closure_label": [
+ "decreased muscle organ strength",
+ "muscle structure physiology phenotype",
+ "muscle structure phenotype",
+ "Abnormality of the musculature",
+ "muscle organ physiology phenotype",
+ "muscle organ",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "growth",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Renal insufficiency",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "organooxygen compound",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal absorption",
+ "renal absorption phenotype",
+ "Abnormality of renal excretion",
+ "renal system process",
+ "cation",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "carbon oxoacid",
+ "Abnormal blood potassium concentration",
+ "role bodily fluid level phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "potassium atom level phenotype",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "protein",
+ "macromolecule",
+ "organic molecular entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "heteroatomic molecular entity",
+ "tube phenotype",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "organic amino compound",
+ "material entity",
+ "Abnormality of alkaline phosphatase level",
+ "excretory system",
+ "abdomen element phenotype",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "polyatomic entity",
+ "racemate",
+ "renal system physiology phenotype",
+ "rac-lactic acid",
+ "amide",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "chemical substance",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "renal system phenotype",
+ "metal atom",
+ "Abnormality of the urinary system physiology",
+ "increased level of chemical entity in urine",
+ "increased urine role level",
+ "decreased anatomical entity strength",
+ "mixture",
+ "epithelial tube",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "chemical entity",
+ "Short stature",
+ "inorganic molecular entity",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "increased level of chemical entity",
+ "inorganic cation",
+ "alkali metal atom",
+ "bone element mass density phenotype",
+ "Abnormal blood cation concentration",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "Abnormal skeletal morphology",
+ "skeletal system phenotype",
+ "carbon group molecular entity",
+ "main group molecular entity",
+ "Elevated circulating alkaline phosphatase concentration",
+ "protein polypeptide chain",
+ "system process phenotype",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "skeletal element",
+ "cavitated compound organ",
+ "mesoderm-derived structure",
+ "Abnormal urinary electrolyte concentration",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "Abnormal muscle physiology",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "Abnormal enzyme concentration or activity",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
+ "Abnormality of the musculoskeletal system",
+ "musculature of body",
+ "Abnormal bone structure",
+ "anatomical system",
+ "role urine level phenotype",
+ "muscle structure",
+ "material anatomical entity",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "multicellular organismal process phenotype",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "main group element atom",
+ "Abnormal renal tubular resorption",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "Hypokalemia",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "Reduced bone mineral density",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "Abnormality of the skeletal system",
+ "Impaired renal tubular reabsorption of phosphate",
+ "hematopoietic system",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "protein-containing molecular entity",
+ "tissue phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "Abnormal circulating enzyme concentration or activity",
+ "organism subdivision",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "process",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "Lacticaciduria",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "decreased size of the anatomical entity",
+ "blood",
+ "heteroorganic entity",
+ "multicellular organismal process",
+ "Muscle weakness",
+ "organ part",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "anatomical entity height phenotype",
+ "atom",
+ "carbohydrate",
+ "biological_process",
+ "renal tubule",
+ "nitrogen molecular entity",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
+ "musculoskeletal system",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "excretory tube phenotype",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "homeostatic process phenotype",
+ "trunk region element physiology phenotype",
+ "material anatomical entity physiology phenotype",
+ "urine phosphate level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "information biomacromolecule",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "organic acid",
+ "ossification",
+ "Abnormal circulating metabolite concentration",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "organ physiology phenotype",
+ "main body axis",
+ "organism substance",
+ "Rickets",
+ "hemolymphoid system",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "decreased functionality of the epithelial tube",
+ "haemolymphatic fluid",
+ "phosphate",
+ "primary amide",
+ "elemental molecular entity",
+ "ion",
+ "increased level of rac-lactic acid in urine",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
+ "hematopoietic system phenotype",
+ "quality",
+ "phosphoric acid derivative",
+ "Abnormal urine carboxylic acid level",
+ "system process",
+ "decreased level of chemical entity",
+ "decreased level of chemical entity in blood",
+ "genitourinary system phenotype",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "trunk",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate level phenotype",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "monoatomic entity",
+ "subdivision of trunk",
+ "decreased functionality of the nephron tubule",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "kidney physiology phenotype",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
+ "lateral structure",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "epithelium",
+ "decreased functionality of the tube",
+ "Abnormality of the upper urinary tract",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "abdominal segment of trunk",
+ "abdomen",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
+ "excretory tube",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "renal system process phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "kidney",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "s-block element atom",
+ "musculature",
+ "decreased role blood level",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "role blood level phenotype",
+ "monovalent inorganic cation"
+ ],
+ "has_phenotype_count": 16,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0014985",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group V",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "xref": [
+ "DOID:0111080",
+ "GARD:16213",
+ "MEDGEN:934619",
+ "OMIM:617243",
+ "UMLS:C4310652"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FANCV",
+ "Fanconi Anemia, complementation Group 5",
+ "Fanconi Anemia, complementation group V",
+ "Fanconi Anemia, complementation group type V",
+ "Fanconi anaemia caused by mutation in MAD2L2",
+ "Fanconi anaemia complementation group type V",
+ "Fanconi anemia caused by mutation in MAD2L2",
+ "Fanconi anemia complementation group type V",
+ "Fanconi anemia, complementation GROUP V",
+ "MAD2L2 Fanconi anaemia",
+ "MAD2L2 Fanconi anemia"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001875",
+ "HP:0000252",
+ "HP:0001873",
+ "HP:0005528",
+ "HP:0006254",
+ "HP:0003221",
+ "HP:0001903",
+ "HP:0004322"
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Microcephaly",
+ "Thrombocytopenia",
+ "Bone marrow hypocellularity",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Anemia",
+ "Short stature"
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0000543",
+ "HP:0000002",
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"UBERON:0002390",
- "UBERON:0011138",
- "CL:0000738",
+ "UBERON:0010000",
+ "HP:0000252",
+ "CL:0000763",
+ "CL:0000458",
+ "NCBITaxon:6072",
+ "GO:0031326",
+ "UBERON:0002090",
+ "CHEBI:23367",
+ "UPHENO:0003001",
+ "UPHENO:0002746",
+ "UPHENO:0086176",
+ "UPHENO:0004523",
+ "NCBITaxon:131567",
+ "HP:0005561",
+ "UBERON:0000153",
+ "HP:0011991",
+ "UPHENO:0002902",
+ "UPHENO:0076791",
+ "UPHENO:0086589",
+ "UBERON:0011676",
+ "CHEBI:36357",
"UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0002948",
- "UBERON:0034923",
+ "GO:0050789",
+ "UBERON:0013701",
+ "UPHENO:0050784",
+ "CL:0000094",
+ "HP:0007364",
+ "CHEBI:24431",
+ "NCBITaxon:33154",
+ "CL:0000988",
+ "HP:0002060",
+ "UPHENO:0087518",
+ "OBI:0100026",
+ "CHEBI:33304",
+ "UBERON:0013702",
+ "HP:0001873",
+ "UBERON:0007811",
+ "HP:0000234",
+ "UPHENO:0076702",
+ "UPHENO:0075195",
+ "HP:0000240",
+ "UBERON:0000475",
+ "UPHENO:0051804",
+ "UPHENO:0046383",
+ "BFO:0000002",
+ "HP:0012639",
+ "UPHENO:0089764",
+ "CL:0000775",
+ "UBERON:0000075",
+ "CL:0000225",
+ "UBERON:0010912",
+ "HP:0000929",
+ "UBERON:0000955",
+ "UBERON:0000073",
"UPHENO:0086172",
- "HP:0001871",
+ "HP:0000707",
+ "UPHENO:0002926",
+ "UPHENO:0069254",
+ "UPHENO:0075220",
+ "UPHENO:0086173",
+ "HP:0011875",
+ "HP:0002977",
+ "UPHENO:0089759",
+ "UPHENO:0085302",
+ "UPHENO:0077373",
+ "CL:0000151",
+ "CL:0000232",
+ "UPHENO:0011531",
+ "HP:0011873",
+ "HP:0005528",
+ "UPHENO:0002844",
+ "UPHENO:0049587",
+ "UPHENO:0085330",
+ "GO:0008152",
+ "UBERON:0000463",
+ "UPHENO:0081581",
+ "CHEBI:32988",
+ "CHEBI:33285",
+ "UBERON:0001017",
+ "UPHENO:0081547",
+ "CHEBI:33694",
+ "UPHENO:0077826",
+ "PR:000003809",
+ "UPHENO:0046378",
+ "NCBITaxon:1",
+ "CHEBI:33302",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "CHEBI:16670",
+ "CHEBI:50047",
+ "UPHENO:0049620",
+ "UBERON:0006314",
+ "CHEBI:36080",
+ "UBERON:0002616",
+ "UPHENO:0048751",
+ "UPHENO:0051763",
+ "BFO:0000003",
+ "UPHENO:0046284",
+ "HP:0045056",
+ "CHEBI:33579",
+ "UPHENO:0048707",
+ "BFO:0000015",
+ "CHEBI:33839",
"HP:0011017",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0002969",
- "HP:0001172",
- "HP:0002715",
- "UPHENO:0010808",
- "HP:0011314",
- "HP:0032251",
- "HP:0004323",
- "HP:0001518",
- "UBERON:0002091",
- "UPHENO:0054304",
- "GO:0031326",
- "BFO:0000003"
+ "UPHENO:0002976",
+ "PR:000000001",
+ "CHEBI:33675",
+ "HP:0001903",
+ "UBERON:0005944",
+ "UBERON:0034925",
+ "UPHENO:0088176",
+ "GO:0042592",
+ "CHEBI:16541",
+ "UPHENO:0068971",
+ "CHEBI:33695",
+ "CHEBI:51143",
+ "CHEBI:50860",
+ "CHEBI:25806",
+ "HP:0001939",
+ "GO:0008150",
+ "HP:0010876",
+ "HP:0004364"
],
"has_phenotype_closure_label": [
- "increased length of the skin of eyelid",
- "increased length of the ectoderm-derived structure",
- "skin of face morphology phenotype",
- "increased size of the zone of organ",
- "increased size of the multicellular anatomical structure",
- "increased length of the material anatomical entity",
- "increased size of the material anatomical entity",
- "increased length of the multicellular anatomical structure",
- "zone of organ",
- "ocular adnexa",
- "eyelid phenotype",
- "increased length of the zone of organ",
- "epicanthal fold",
- "zone of organ phenotype",
- "zone of skin morphology phenotype",
- "skin of eyelid",
- "eyelid",
- "skin of head",
- "tube",
- "closing of the multicellular anatomical structure",
- "Abnormality of the digestive system",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus morphology phenotype",
- "ectoderm-derived structure atresia",
- "anatomical conduit phenotype",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "anatomical conduit",
- "absent abdomen element",
- "increased size of the anatomical structure",
- "number of anatomical enitites of type compound organ phenotype",
- "absent multicellular anatomical structure in the renal system",
- "absent kidney in the renal system",
- "absent abdomen element in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "Unilateral renal agenesis",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
- "closing of the anatomical conduit",
- "number of anatomical enitites of type kidney phenotype",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent lateral structure",
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "anus atresia",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "incomplete closing of the interventricular septum",
- "Abnormal ventricular septum morphology",
- "Abnormal cardiac ventricle morphology",
- "Localized skin lesion",
- "Hypermelanotic macule",
- "anatomical line",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "Hypertelorism",
- "non-material anatomical boundary",
- "absent organ",
- "increased size of the non-material anatomical boundary",
- "location of eyeball of camera-type eye phenotype",
- "anatomical line between pupils",
- "increased size of the anatomical entity",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical entity",
- "increased length of the anatomical line",
- "multi organ part structure",
- "non-material anatomical boundary phenotype",
- "eyelid morphology phenotype",
- "integumental system",
- "increased biological_process in skin of body",
- "increased pigmentation",
- "increased biological_process",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "absent abdominal segment element in the renal system",
- "pigmentation phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "delayed growth",
- "Postnatal growth retardation",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the anatomical structure",
+ "growth",
+ "Short stature",
+ "decreased height of the anatomical entity",
"Growth delay",
- "Peripheral primitive neuroectodermal neoplasm",
- "Neuroepithelial neoplasm",
- "Neuroblastoma",
- "Neuroblastic tumor",
- "Primitive neuroectodermal tumor",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "Abnormal anus morphology",
- "regional part of nervous system",
- "organism",
- "increased size of the zone of skin",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "erythrocyte morphology phenotype",
+ "erythroid lineage cell morphology phenotype",
"regulation of macromolecule metabolic process",
- "cardiac ventricle phenotype",
- "negative regulation of metabolic process",
+ "regulation of biosynthetic process",
"negative regulation of cellular process",
- "Nervous tissue neoplasm",
- "Abnormal cellular physiology",
- "negative regulation of macromolecule metabolic process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "absent trunk region element in the renal system",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "increased length of the skin of face",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
"regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the vertebral column",
- "Abnormal axial skeleton morphology",
- "digestive system morphology phenotype",
- "postcranial axial skeleton phenotype",
- "dorsum",
- "irregular bone phenotype",
- "cervical vertebra endochondral element",
- "shape anatomical entity",
- "trunk or cervical vertebra",
- "neck morphology phenotype",
- "Abnormal neck morphology",
- "irregular bone",
- "regulation of macromolecule metabolic process phenotype",
- "dorsal part of neck",
- "dorsal region element",
- "axial skeleton plus cranial skeleton phenotype",
- "Abnormality of the neck",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "subdivision of vertebral column",
- "cervical region",
- "decreased length of neck",
- "vertebral element phenotype",
- "decreased number of myeloid cell",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "skin of head morphology phenotype",
- "Abnormal myeloid cell morphology",
- "decreased number of cell",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of gene expression",
+ "negative regulation of macromolecule biosynthetic process",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of cellular metabolic process",
"Chromosome breakage",
- "Abnormal platelet count",
- "bone marrow",
- "bone cell",
- "Abnormality of the anus",
- "oxygen accumulating cell",
- "anucleate cell",
- "secretory cell",
- "decreased number of material anatomical entity",
- "orifice atresia",
- "platelet phenotype",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "erythrocyte",
- "platelet",
+ "negative regulation of biological process phenotype",
+ "regulation of cellular process phenotype",
+ "negative regulation of gene expression phenotype",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "regulation of cellular biosynthetic process phenotype",
+ "programmed DNA elimination",
+ "aplasia or hypoplasia of telencephalon",
+ "multi-tissue structure",
+ "craniocervical region morphology phenotype",
+ "Abnormal neutrophil count",
+ "Abnormality of blood and blood-forming tissues",
+ "molecular entity",
"blood cell",
- "decreased number of platelet",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Thrombocytopenia",
- "erythroid lineage cell",
- "serotonin secreting cell",
- "tissue",
- "Abnormal cell morphology",
- "decreased number of anatomical entity",
- "Abnormal bone marrow cell morphology",
- "biological_process phenotype",
- "organ part",
- "endochondral bone phenotype",
- "Abnormal cardiac atrium morphology",
- "localised material anatomical entity",
- "abdomen element phenotype",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "decreased length of bone element",
- "skeletal element phenotype",
- "forelimb zeugopod bone hypoplasia",
+ "anatomical structure",
+ "musculature of body",
+ "nitrogen molecular entity",
+ "decreased size of the multicellular organism",
+ "telencephalon morphology phenotype",
+ "immune system morphology phenotype",
+ "multicellular organism height phenotype",
+ "cranial skeletal system",
+ "nucleate cell",
+ "postcranial axial skeletal system",
+ "multicellular anatomical structure phenotype",
+ "decreased number of granulocyte",
+ "negative regulation of biosynthetic process",
+ "blood cell phenotype",
+ "neutrophil",
+ "cell",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Morphological central nervous system abnormality",
+ "independent continuant",
+ "Abnormal granulocyte morphology",
+ "anatomical collection",
+ "nervous system phenotype",
+ "All",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "skull phenotype",
"biological regulation phenotype",
- "Abnormality of the nervous system",
- "ectoderm-derived structure",
- "Short neck",
- "Neoplasm by anatomical site",
- "decreased size of the arm bone",
- "neoplasm phenotype",
- "cardiac septum morphology phenotype",
- "localised multicellular anatomical structure",
+ "Abnormality of skull size",
+ "multicellular anatomical structure",
+ "Abnormal erythroid lineage cell morphology",
+ "leukocyte",
+ "material entity",
+ "organic amino compound",
+ "decreased number of material anatomical entity",
+ "hemolymphoid system",
+ "number of myeloid cell phenotype",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
"Abnormal nervous system morphology",
- "Abnormality of the cervical spine",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "Abnormality of blood and blood-forming tissues",
- "Neoplasm",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "manus morphology phenotype",
- "arm phenotype",
- "subdivision of skeleton phenotype",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "lateral structure phenotype",
- "Abnormal heart morphology",
- "decreased size of the material anatomical entity",
- "decreased length of bone of pectoral complex",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "anatomical entity morphology in the pectoral complex phenotype",
- "heart phenotype",
- "decreased length of bone of free limb or fin",
- "cervical region of vertebral column",
- "renal system",
- "absent organ in the renal system",
- "sense organ phenotype",
- "mesoderm-derived structure phenotype",
- "increased length of the anatomical structure",
- "absent material anatomical entity",
- "zeugopod",
- "arm bone phenotype",
- "regulation of cellular biosynthetic process",
- "Neoplasm by histology",
- "process",
- "aplasia or hypoplasia of anatomical entity",
- "skeleton",
- "organ phenotype",
- "trunk region element phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "skeleton phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased size of the forelimb endochondral element",
- "mesoderm-derived structure morphology in the heart phenotype",
- "autopodial skeleton",
- "increased length of the organ part",
- "subdivision of vertebral column phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "decreased length of anatomical structure",
- "cardiovascular system",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased length of skeletal element",
- "long bone phenotype",
- "Abnormal atrial septum morphology",
- "subdivision of skeletal system phenotype",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "Aplastic anemia",
- "face",
- "anatomical entity length phenotype",
- "appendage girdle complex",
- "zeugopod phenotype",
- "regulation of cellular process",
- "vertebral column",
- "Abnormal forearm morphology",
- "absent anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased size of the mesoderm-derived structure",
- "programmed DNA elimination",
- "system",
- "decreased length of endochondral element",
- "Short finger",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "Small for gestational age",
- "quality",
- "Upper limb undergrowth",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "trunk",
- "hematopoietic system phenotype",
- "size of anatomical entity phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "subdivision of head",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "Malignant neoplasm of the central nervous system",
- "incomplete closing of the cardiac septum",
- "Abnormality of globe location",
- "anatomical entity morphology in the heart phenotype",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "Limb undergrowth",
- "manual digit plus metapodial segment",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "circulatory organ",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "increased length of the epicanthal fold",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
+ "anatomical system phenotype",
+ "Neutropenia",
+ "musculoskeletal system",
+ "hematopoietic cell",
+ "decreased size of the anatomical entity",
+ "blood",
+ "growth phenotype",
+ "Abnormal granulocyte count",
+ "non-connected functional system",
+ "neutrophil phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "organism subdivision",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "negative regulation of gene expression",
"Phenotypic abnormality",
- "forelimb long bone",
- "arm",
- "skeleton of limb phenotype",
- "cardiac ventricle",
+ "blood organic molecular entity level phenotype",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "decreased number of hematopoietic cell",
+ "skull morphology phenotype",
+ "biological_process",
+ "granulocyte",
+ "skeletal system phenotype",
+ "Abnormal leukocyte morphology",
+ "decreased number of leukocyte",
+ "Abnormality of the skeletal system",
+ "decreased number of cell",
+ "erythrocyte",
+ "organ system subdivision",
+ "immune system",
+ "myeloid cell",
+ "organonitrogen compound",
+ "anatomical entity phenotype",
+ "root",
+ "chemical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "material anatomical entity",
+ "Abnormal platelet count",
+ "Decreased head circumference",
+ "Abnormal myeloid leukocyte morphology",
+ "skull",
+ "anatomical structure phenotype",
+ "Abnormality of the head",
+ "Abnormal forebrain morphology",
+ "Abnormality of the immune system",
+ "Thrombocytopenia",
+ "eukaryotic cell",
+ "hematopoietic system phenotype",
+ "ectoderm-derived structure phenotype",
+ "blood chemical entity level phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "Abnormal cellular immune system morphology",
+ "myeloid leukocyte",
+ "telencephalon phenotype",
+ "organic molecular entity",
+ "hematopoietic system",
+ "multicellular organism",
+ "primary amide",
+ "subdivision of organism along main body axis",
"material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity",
+ "disconnected anatomical group",
+ "bone marrow",
+ "immune system phenotype",
+ "skeleton",
+ "postcranial axial skeleton",
+ "number of hematopoietic cell phenotype",
+ "subdivision of skeletal system phenotype",
+ "Abnormal myeloid cell morphology",
+ "number of anatomical enitites of type neutrophil phenotype",
"Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Neuroectodermal neoplasm",
- "decreased length of endochondral bone",
- "increased length of the skin of head",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "camera-type eye",
- "All",
- "increased length of the zone of skin",
- "anatomical structure atresia",
+ "secretory cell",
+ "motile cell",
"skeletal system",
- "Embryonal renal neoplasm",
- "cardiac ventricle morphology phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "pnictogen molecular entity",
+ "Eumetazoa",
+ "Eukaryota",
+ "bone marrow cell",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "blood alpha-fetoprotein level phenotype",
+ "leukocyte morphology phenotype",
+ "decreased number of anatomical structure",
+ "regulation of gene expression phenotype",
+ "bone cell",
+ "polypeptide",
+ "Abnormal skeletal morphology",
+ "erythroid lineage cell",
+ "Abnormal axial skeleton morphology",
+ "Growth abnormality",
+ "programmed DNA elimination by chromosome breakage",
+ "size of skull phenotype",
+ "anatomical entity morphology phenotype",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "mesoderm-derived structure",
+ "macromolecule",
+ "granulocyte morphology phenotype",
+ "organism substance",
+ "taxon specific phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Bone marrow hypocellularity",
"skeletal element",
- "multi organ part structure phenotype",
- "cardiac septum phenotype",
- "appendicular skeleton phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
+ "regional part of nervous system phenotype",
+ "phenotype",
+ "Abnormal cell morphology",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "information biomacromolecule",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased number of anatomical entity",
+ "decreased number of platelet",
+ "quality",
"anatomical system",
- "forelimb endochondral element",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "zone of skin",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "decreased length of multicellular anatomical structure",
- "decreased size of the bone element",
- "absent abdominal segment element",
- "endochondral bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased size of the limb bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical structure",
- "increased size of the anatomical line",
- "myeloid lineage restricted progenitor cell",
- "absent compound organ",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "orifice",
- "anterior region of body",
- "hematopoietic lineage restricted progenitor cell",
- "cranial skeletal system",
- "Microphthalmia",
+ "Abnormality of thrombocytes",
+ "number of cell phenotype",
+ "cellular organisms",
+ "Abnormal brain morphology",
+ "polyatomic entity",
+ "Abnormality of neutrophils",
+ "multi-tissue structure phenotype",
"central nervous system",
- "absent kidney",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "musculoskeletal system",
- "limb segment",
- "organ",
- "skeleton of pectoral complex",
- "musculature of body phenotype",
- "increased length of the anatomical line between pupils",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "forelimb long bone phenotype",
+ "tissue",
+ "amino acid chain",
+ "craniocervical region",
+ "haemolymphatic fluid",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "homeostatic process phenotype",
+ "brain morphology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "protein-containing material entity",
+ "regional part of brain phenotype",
+ "forebrain",
+ "regional part of nervous system",
+ "organism",
+ "Microcephaly",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "head morphology phenotype",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "regulation of biological process",
"nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "radius bone morphology phenotype",
- "digitopodium region",
- "decreased size of the forelimb zeugopod bone",
- "interatrial septum",
+ "telencephalon",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "central nervous system morphology phenotype",
+ "axial skeletal system",
+ "specifically dependent continuant",
+ "Abnormal cerebral morphology",
+ "Metazoa",
+ "axial skeleton plus cranial skeleton",
+ "Abnormality of the nervous system",
+ "organism subdivision phenotype",
+ "role blood level phenotype",
"nervous system",
- "absent anatomical structure in the renal system",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "absent trunk region element",
- "decreased length of mesoderm-derived structure",
+ "anterior region of body",
+ "myeloid leukocyte phenotype",
+ "main body axis",
+ "decreased size of the material anatomical entity",
+ "biological_process phenotype",
"regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "Abnormal circulating metabolite concentration",
+ "multicellular organism morphology phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "blood protein polypeptide chain level phenotype",
+ "musculature",
+ "decreased number of neutrophil",
+ "regional part of brain",
+ "brain",
+ "subdivision of skeleton",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Opisthokonta",
+ "anucleate cell",
+ "platelet phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bodily fluid",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "blood organic amino compound level phenotype",
+ "biogenic amine secreting cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "forebrain morphology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "protein-containing molecular entity",
+ "negative regulation of cellular biosynthetic process",
+ "main group molecular entity",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal cellular physiology",
+ "increased level of chemical entity",
+ "head",
+ "chemical entity level phenotype",
+ "amide",
+ "number of leukocyte phenotype",
+ "platelet",
+ "organooxygen compound",
+ "peptide",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "body proper",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating nitrogen compound concentration",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "carbon group molecular entity",
+ "oxygen molecular entity",
+ "organochalcogen compound",
+ "serotonin secreting cell",
+ "homeostatic process",
+ "oxygen accumulating cell",
+ "protein",
+ "increased level of alpha-fetoprotein",
+ "Abnormal circulating alpha-fetoprotein concentration",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "heteroorganic entity",
+ "Abnormal platelet morphology",
+ "alpha-fetoprotein",
+ "chalcogen molecular entity",
+ "role bodily fluid level phenotype",
+ "metabolic process",
+ "continuant",
+ "protein polypeptide chain",
+ "alpha-fetoprotein level phenotype",
+ "organ",
+ "occurrent",
+ "regulation of biological process phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "Abnormal circulating protein concentration",
+ "decreased number of myeloid cell",
+ "Abnormal circulating organic amino compound concentration",
+ "process",
+ "craniocervical region phenotype",
+ "Elevated circulating alpha-fetoprotein concentration"
+ ],
+ "has_phenotype_count": 8,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0014987",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group U",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.",
+ "xref": [
+ "DOID:0111085",
+ "GARD:16215",
+ "MEDGEN:934618",
+ "OMIM:617247",
+ "UMLS:C4310651"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FANCU",
+ "Fanconi Anemia, complementation group U",
+ "Fanconi Anemia, complementation group type U",
+ "Fanconi anaemia caused by mutation in XRCC2",
+ "Fanconi anaemia complementation group type U",
+ "Fanconi anemia caused by mutation in XRCC2",
+ "Fanconi anemia complementation group type U",
+ "Fanconi anemia, complementation GROUP U",
+ "XRCC2 Fanconi anaemia",
+ "XRCC2 Fanconi anemia"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
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+ "HP:0001643",
+ "HP:0012799",
+ "HP:0010035",
+ "HP:0011835"
+ ],
+ "has_phenotype_label": [
+ "Absent thumb",
+ "Chromosome breakage",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypoplasia of the radius",
+ "Absent radius",
+ "Growth delay",
+ "Patent ductus arteriosus",
+ "Unilateral facial palsy",
+ "Aplasia of the 1st metacarpal",
+ "Absent scaphoid"
+ ],
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+ "UPHENO:0081700",
+ "HP:0002011",
+ "UPHENO:0003004",
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+ "UPHENO:0025553",
+ "NCBITaxon:1",
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+ "UBERON:0015042",
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+ "UBERON:0000055",
+ "UBERON:0000489",
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+ "HP:0000240",
+ "HP:0001367",
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+ "UPHENO:3000004",
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+ "UBERON:0001981",
+ "UPHENO:0011492",
+ "UBERON:0013702",
+ "UPHENO:0080187",
+ "UBERON:0003466",
+ "UPHENO:0050007",
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+ "HP:0003026",
+ "UBERON:0003607",
+ "UPHENO:0046460",
+ "UPHENO:0087501",
+ "UPHENO:0002594",
+ "UPHENO:0046465",
+ "UBERON:0003606",
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+ "UPHENO:0069064",
+ "UPHENO:0049757",
+ "UPHENO:0069125",
+ "UPHENO:0086797",
+ "UBERON:0001015",
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+ "UBERON:0010912",
+ "UPHENO:0046479",
+ "HP:0040072",
+ "UPHENO:0075944",
+ "UPHENO:0046540",
+ "UBERON:0000955",
+ "UBERON:0010703",
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+ "UBERON:0002389",
+ "UPHENO:0087349",
+ "UBERON:0000468",
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+ "UPHENO:0079872",
+ "UPHENO:0009341",
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+ "UBERON:0009878",
+ "UBERON:0005162",
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+ "UPHENO:0025852",
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+ "UBERON:0001647",
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+ "UPHENO:0001002",
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+ "UPHENO:0011573",
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+ "HP:0410008",
+ "UPHENO:0002433",
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+ "UPHENO:0068912",
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+ "UPHENO:0009304",
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+ "UPHENO:0026312",
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+ "UPHENO:0009115",
+ "UPHENO:0026806",
+ "UPHENO:0025882",
+ "UPHENO:0008487",
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+ "UPHENO:0026183",
+ "UPHENO:0026344",
+ "GO:0065007",
+ "UPHENO:0025855",
+ "UPHENO:0009010",
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+ "UPHENO:0025544",
+ "UPHENO:0076810",
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+ "UPHENO:0008604",
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+ "UPHENO:0025808",
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+ "HP:0000119",
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+ "UPHENO:0026095",
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+ "UPHENO:0008640",
+ "UBERON:0001436",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0000541",
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+ "HP:0001507",
+ "UPHENO:0000543",
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+ "UBERON:0008785",
+ "UPHENO:0002668",
+ "HP:0000118",
+ "UBERON:0003834",
+ "HP:0010242",
+ "UBERON:0007100",
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+ "UBERON:0034923",
+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0004535",
+ "UBERON:0005181"
+ ],
+ "has_phenotype_closure_label": [
+ "Abnormality of the wrist",
+ "absent proximal mesopodial bone",
+ "Carpal bone aplasia",
+ "carpal bone phenotype",
+ "proximal mesopodial endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the carpal bones",
+ "absent mesopodium bone",
+ "proximal mesopodial bone phenotype",
+ "absent proximal carpal endochondral element",
+ "aplastic carpal bone",
+ "mesopodium bone phenotype",
+ "skeletal joint phenotype",
+ "skeletal joint morphology in the pectoral complex phenotype",
+ "absent mesopodium bone in the limb",
+ "carpal region phenotype",
+ "absent proximal carpal bone",
+ "Abnormality of the scaphoid",
+ "carpal region",
+ "absent radiale",
+ "absent short bone in the limb",
+ "mesopodium region phenotype",
+ "carpus endochondral element",
+ "skeletal joint",
+ "multi organ part structure",
+ "carpal bone morphology phenotype",
+ "Absent scaphoid",
+ "proximal mesopodial bone",
+ "proximal carpal endochondral element",
+ "short bone",
+ "Abnormality of upper limb joint",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "absent autopod endochondral element in the limb",
+ "absent skeletal element in the metacarpus region",
+ "absent anatomical structure in the metacarpus region",
+ "absent carpus endochondral element in the limb",
+ "absent autopod bone in the metacarpus region",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "Aplasia of the proximal phalanges of the hand",
+ "metapodium bone 1 phenotype",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "metacarpal bone morphology phenotype",
+ "manual digit bone phenotype",
+ "Abnormal finger phalanx morphology",
+ "absent metapodium bone",
+ "aplasia or hypoplasia of phalanx of manus",
+ "proximal carpal endochondral element phenotype",
+ "absent digitopodium bone",
+ "phalanx of manus phenotype",
+ "Abnormal metacarpal morphology",
+ "absent manual digitopodium bone in the metacarpus region",
+ "aplastic metacarpal bone of digit 1",
+ "absent endochondral bone in the metacarpus region",
+ "absent metacarpal bone in the metacarpus region",
+ "absent bone of appendage girdle complex in the metacarpus region",
+ "Aplasia of metacarpal bones",
+ "absent manus bone in the metacarpus region",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "metapodium bone phenotype",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "metapodium bone 1",
+ "proximal phalanx",
+ "proximal phalanx of manus",
+ "Partial absence of thumb",
+ "Aplasia of the 1st metacarpal",
+ "autopod bone phenotype",
+ "absent anatomical entity in the metacarpus region",
+ "absent limb endochondral element in the metacarpus region",
+ "absent manus bone in the limb",
+ "manual digit phalanx endochondral element phenotype",
+ "autopod endochondral element phenotype",
+ "absent limb long bone in the metacarpus region",
+ "phalanx phenotype",
+ "absent manus bone",
+ "digit 1 digitopodial skeleton",
+ "manual digit digitopodial skeleton",
+ "absent bone of pectoral complex in the metacarpus region",
+ "Abnormality of thumb phalanx",
+ "phalanx endochondral element",
+ "manual digit metacarpus endochondral element",
+ "manual digit phalanx endochondral element",
+ "absent long bone in the metacarpus region",
+ "proximal carpal bone",
+ "digitopodium bone phenotype",
+ "Aplasia/Hypoplasia of the proximal phalanges of the hand",
+ "absent autopod bone in the limb",
+ "manual digit 1 metacarpus endochondral element",
+ "manual digit 1 phalanx phenotype",
+ "absent manual digit metacarpus endochondral element in the metacarpus region",
+ "metacarpal bone of digit 1",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
+ "metapodium bone",
+ "skeleton of digitopodium",
+ "absent mesoderm-derived structure in the metacarpus region",
+ "absent metapodium bone in the metacarpus region",
+ "facial nerve",
+ "cranial neuron projection bundle",
+ "decreased muscle organ strength",
+ "Abnormal seventh cranial physiology",
+ "peripheral nervous system",
+ "neuron projection bundle",
+ "muscle structure physiology phenotype",
+ "lateral structure physiology phenotype",
+ "nerve phenotype",
+ "muscle organ phenotype",
+ "material anatomical entity physiology phenotype",
+ "multi cell part structure phenotype",
+ "muscle organ morphology phenotype",
+ "Cranial nerve paralysis",
+ "neuron projection bundle phenotype",
+ "axial musculature",
+ "face phenotype",
+ "Unilateral facial palsy",
+ "skeletal muscle organ, vertebrate phenotype",
+ "paralysed anatomical entity",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "Abnormality of facial soft tissue",
+ "metapodial skeleton",
+ "cranial neuron projection bundle phenotype",
+ "skeletal musculature",
+ "muscle structure",
+ "multicellular anatomical structure physiology phenotype",
+ "paralysed cranial nerve",
+ "cranial muscle phenotype",
+ "Abnormality of the musculature",
+ "Abnormal skeletal muscle morphology",
+ "cranial or facial muscle phenotype",
+ "cranial or facial muscle",
+ "Abnormal peripheral nerve morphology by anatomical site",
+ "Weakness of facial musculature",
+ "skeletal joint morphology phenotype",
+ "facial muscle",
+ "absent autopod endochondral element",
+ "craniocervical muscle",
+ "anatomical structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "peripheral nervous system phenotype",
+ "Abnormal nervous system physiology",
+ "muscle organ physiology phenotype",
+ "musculature of face",
+ "skeletal musculature of head",
+ "cranial nerve physiology phenotype",
+ "anatomical system physiology phenotype",
+ "aplastic manual digit 1 phalanx",
+ "muscle organ",
+ "craniocervical muscle phenotype",
+ "decreased anatomical entity strength",
+ "subdivision of head phenotype",
+ "nervous system physiology phenotype",
+ "manual digit bone",
+ "Abnormal morphology of the great vessels",
+ "material anatomical entity morphology in the heart phenotype",
+ "artery morphology phenotype",
+ "Abnormal heart morphology",
+ "Congenital malformation of the great arteries",
+ "systemic arterial system",
+ "Abnormal cardiovascular system morphology",
+ "vascular system",
+ "heart morphology phenotype",
+ "Abnormality of the vasculature",
+ "vessel phenotype",
+ "incomplete closing of the coronary vessel",
+ "cranial nerve",
+ "ductus arteriosus morphology phenotype",
+ "circulatory organ",
+ "Abnormality of the cardiovascular system",
+ "incomplete closing of the vessel",
+ "incomplete closing of the heart blood vessel",
+ "blood vessel morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "incomplete closing of the anatomical structure",
+ "incomplete closing of the systemic artery",
+ "anatomical conduit",
+ "incomplete closing of the ductus arteriosus",
+ "manual digit 1 phalanx",
+ "artery phenotype",
+ "anatomical cluster phenotype",
+ "trunk blood vessel",
+ "arterial blood vessel",
+ "great vessel of heart",
+ "anatomical cluster",
+ "carpus endochondral element phenotype",
+ "incomplete closing of the arterial blood vessel",
+ "trunk blood vessel phenotype",
+ "anatomical conduit phenotype",
+ "mesopodium region",
+ "aplasia or hypoplasia of metacarpal bone",
+ "systemic artery",
+ "phalanx",
+ "vasculature of organ",
+ "nerve",
+ "heart plus pericardium",
+ "vasculature of trunk",
+ "heart blood vessel",
+ "arterial system",
+ "disconnected anatomical group",
+ "great vessel of heart morphology phenotype",
+ "heart vasculature",
+ "ductus arteriosus",
+ "incomplete closing of the thoracic segment blood vessel",
+ "Abnormality of the peripheral nervous system",
+ "compound organ",
+ "zeugopodial skeleton",
+ "absent carpus endochondral element",
+ "limb long bone",
+ "absent organ in the multicellular organism",
+ "blood vessel",
+ "outflow tract",
+ "Ectopic kidney",
"Abnormal renal morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "decreased size of the endochondral element",
- "Short long bone",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "postcranial axial skeleton",
- "organ system subdivision",
- "bone of dorsum phenotype",
- "viscus",
- "aplasia or hypoplasia of manual digit",
- "decreased size of the bone of pectoral complex",
- "blood cell phenotype",
- "simple eye phenotype",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type organ phenotype",
- "cervical vertebra endochondral element phenotype",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "Abnormal localization of kidney",
+ "programmed DNA elimination by chromosome breakage",
+ "size of skull phenotype",
"trunk region element",
- "Abnormality of the integument",
- "incomplete closing of the material anatomical entity",
- "phenotype",
"pectoral complex",
- "septum phenotype",
- "radius endochondral element",
- "Atrial septal defect",
- "decreased size of the multicellular anatomical structure",
- "Decreased head circumference",
- "material anatomical entity",
- "appendicular skeletal system",
- "long bone",
- "lateral structure",
- "closing of the anatomical structure",
- "phenotypic effect",
- "decreased length of bone of appendage girdle complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "digestive system phenotype",
- "vertebra",
- "decreased length of forelimb bone",
- "decreased length of organ",
- "myeloblast",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "Macule",
- "programmed DNA elimination by chromosome breakage",
- "heart morphology phenotype",
- "thoracic cavity element phenotype",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
+ "subdivision of skeletal system",
+ "entity",
+ "manual digit 1 phalanx endochondral element",
"forelimb zeugopod bone morphology phenotype",
- "integument phenotype",
- "musculature",
- "absent manual digit",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "nervous system phenotype",
- "limb phenotype",
+ "renal system phenotype",
+ "absent endochondral bone in the limb",
+ "short bone phenotype",
+ "acropodial skeleton",
+ "Abnormal muscle physiology",
+ "autopod region morphology phenotype",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "Abnormality of the upper urinary tract",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "localised multicellular anatomical structure",
+ "gustatory system",
+ "main body axis",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "segment of autopod",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "kidney phenotype",
+ "skeletal system morphology phenotype",
+ "cell",
+ "limb",
+ "Abnormality of the upper limb",
+ "skeletal element",
+ "zeugopod",
+ "regulation of biosynthetic process phenotype",
+ "cranial muscle",
+ "subdivision of organism along main body axis phenotype",
+ "absent limb bone in the limb",
+ "aplasia or hypoplasia of proximal phalanx of manus",
"negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "forelimb phenotype",
- "multicellular organism",
- "decreased size of the skeletal element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Medulloblastoma",
- "hematopoietic system",
- "Abnormality of head or neck",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "bone of pectoral complex phenotype",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "shape of continuant phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "homeostatic process",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Muscle weakness",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
+ "aplasia or hypoplasia of radius bone",
+ "absent bone of pectoral complex in the forelimb",
+ "phalanx morphology phenotype",
+ "Eumetazoa",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "articular system",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "phalanx endochondral element phenotype",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent carpal bone in the limb",
+ "metacarpal bone",
+ "occurrent",
"subdivision of skeleton",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "increased size of the organ part",
+ "endochondral bone",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "root",
+ "decreased length of organ",
+ "musculoskeletal system",
+ "localised anatomical structure",
+ "proximal mesopodial endochondral element",
+ "Absent thumb",
+ "cavitated compound organ phenotype",
+ "mesopodium bone",
+ "bone of free limb or fin",
+ "aplastic anatomical entity",
+ "incomplete closing of the trunk blood vessel",
+ "anterior region of body",
+ "cardiovascular system",
+ "absent skeletal element",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
"anatomical collection",
- "septum",
- "Abnormal cardiac septum morphology",
- "decreased length of limb bone",
- "incomplete closing of the septum",
+ "absent carpal bone",
+ "nervous system phenotype",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "systemic artery phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "Opisthokonta",
"Eukaryota",
- "anatomical system phenotype",
- "cardiac atrium",
- "absent material anatomical entity in the limb",
- "digestive tract",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "incomplete closing of the artery",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "proximal carpal bone phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "arterial blood vessel phenotype",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
+ "Phenotypic abnormality",
+ "carpal bone",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "multicellular anatomical structure phenotype",
+ "bone element phenotype",
+ "Abnormal carpal morphology",
+ "mesopodial skeleton",
+ "multi-limb segment region phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "absent autopod bone",
+ "regulation of macromolecule metabolic process",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "absent organ in the metacarpus region",
+ "organism subdivision phenotype",
+ "appendage phenotype",
"skeleton of limb",
- "radius bone hypoplasia",
- "multicellular anatomical structure",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
+ "Aplasia involving forearm bones",
+ "negative regulation of cellular process phenotype",
+ "absent manual digit metacarpus endochondral element",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "incomplete closing of the anatomical entity",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "manual digitopodium bone phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "viscus",
+ "decreased size of the skeletal element",
+ "appendicular skeleton",
+ "upper limb segment",
+ "multi cell part structure",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "carpal skeleton",
+ "arm phenotype",
+ "thoracic cavity element",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "limb bone",
+ "absent bone element in the limb",
+ "absent forelimb endochondral element in the metacarpus region",
"segment of manus",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "upper limb segment phenotype",
- "negative regulation of biosynthetic process",
- "vertebral element",
- "absent autopodial extension",
- "upper eyelid",
- "specifically dependent continuant",
- "Epicanthus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "limb endochondral element",
+ "absent limb bone",
+ "agenesis of anatomical entity",
+ "absent bone element in the metacarpus region",
+ "absent bone of free limb or fin in the limb",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "manus bone",
+ "radius bone",
+ "Abnormality of the hand",
+ "nerve of head region",
+ "phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "arm",
+ "absent limb long bone in the forelimb",
+ "autopodial extension phenotype",
+ "manual digit",
+ "articulation phenotype",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "absent multicellular anatomical structure in the skeletal system",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "regulation of cellular process phenotype",
"forelimb zeugopod",
- "limb long bone phenotype",
- "incomplete closing of the anatomical structure",
- "Abnormality of the head",
- "aplasia or hypoplasia of skeleton",
- "arm bone",
- "occurrent",
- "multi-limb segment region",
- "musculature of body",
- "pectoral appendage",
+ "absent organism subdivision in the multicellular organism",
+ "multicellular organism",
+ "regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "manus morphology phenotype",
+ "material anatomical entity phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "paired limb/fin",
+ "metacarpus region",
+ "Hypoplasia of the radius",
+ "absent material anatomical entity in the metacarpus region",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "aplasia or hypoplasia of carpal bone",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "cranial nerve phenotype",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "mesoderm-derived structure phenotype",
+ "decreased length of bone of appendage girdle complex",
"bone element",
- "skin of face",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "organism subdivision phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "regulation of biological process",
+ "facial nerve phenotype",
+ "digit 1 phenotype",
+ "vessel",
+ "lateral structure",
+ "autopod bone",
"mesoderm-derived structure",
- "upper urinary tract phenotype",
- "excretory system",
- "paired limb/fin segment",
- "cardiac chamber",
- "Growth abnormality",
- "skeletal system phenotype",
- "limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "decreased length of anatomical entity",
- "Abnormal skeletal morphology",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormal digit morphology",
"thoracic segment organ",
- "Renal agenesis",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "nucleate cell",
- "zeugopodial skeleton",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "cardiac septum",
- "heart plus pericardium",
- "non-connected functional system",
- "viscus phenotype",
- "segment of autopod",
- "primary circulatory organ phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "dorsal region element phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "absent trunk region element in the multicellular organism",
- "regulation of cellular metabolic process",
- "Abnormal cardiovascular system morphology",
- "cardiac atrium phenotype",
- "Absent thumb",
- "cardiovascular system morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "anatomical structure morphology in the heart phenotype",
- "cardiovascular system phenotype",
- "granulocytopoietic cell",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "cervical vertebra",
- "paired limb/fin segment phenotype",
- "compound organ",
- "subdivision of organism along main body axis",
- "decreased size of the forelimb bone",
- "main body axis",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "material anatomical entity morphology in the heart phenotype",
- "neck phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "structure with developmental contribution from neural crest",
- "absent anatomical structure in the limb",
- "Abnormality of the ocular adnexa",
- "orbital region phenotype",
- "Neoplasm of the central nervous system",
- "organ part phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "opening of the anatomical entity",
- "cardiac atrium morphology phenotype",
- "Decreased body weight",
- "thoracic segment organ phenotype",
- "biological_process",
- "cardiac chamber phenotype",
- "trunk phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
+ "absent forelimb long bone",
+ "organ system subdivision",
+ "metacarpus skeleton",
+ "nerve of head region phenotype",
+ "musculature",
"regional part of brain",
- "digit phenotype",
- "anus phenotype",
- "autopodial extension phenotype",
- "decreased size of the ectoderm-derived structure",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "blood vasculature",
+ "limb endochondral element phenotype",
+ "skeletal muscle organ, vertebrate",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "taxon specific phenotype",
+ "absent manual digit",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "head or neck skin",
- "digit 1 phenotype",
- "number of cell phenotype",
- "limb bone",
- "camera-type eye phenotype",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "absent anatomical entity in the skeletal system",
+ "Abnormal cellular physiology",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "absent bone of free limb or fin",
+ "articulation",
+ "Abnormality of facial musculature",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Abnormal skeletal morphology",
+ "aplastic phalanx of manus",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "incomplete closing of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone of appendage girdle complex phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
"manual digit 1 or 5",
- "decreased length of digit 1",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
+ "paired limb/fin segment phenotype",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent long bone",
+ "anatomical entity",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "pectoral appendage skeleton",
+ "absent proximal mesopodial endochondral element",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
"manus",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "eukaryotic cell",
- "integument",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "anatomical entity atresia",
- "autopod region",
- "myeloid cell",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "Short digit",
- "autopod region morphology phenotype",
- "interventricular septum",
- "skull",
- "Neoplasm of the nervous system",
- "Short thumb",
- "Abnormality of the hand",
"Abnormality of limbs",
- "incomplete closing of the interatrial septum",
- "aplasia or hypoplasia of manual digit 1",
- "size of eyeball of camera-type eye phenotype",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "Acute myeloid leukemia",
- "anus",
- "Ventricular septal defect",
- "decreased length of autopodial extension",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
+ "muscle structure phenotype",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "arm bone",
+ "Abnormal joint morphology",
+ "body proper",
+ "absent limb endochondral element in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "multicellular organism morphology phenotype",
+ "absent forelimb bone in the metacarpus region",
+ "absent multicellular anatomical structure in the limb",
+ "regulation of cellular process",
+ "localised trunk region element",
+ "coronary vessel",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "craniocervical region morphology phenotype",
+ "Abnormality of the skeletal system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "system",
+ "regulation of gene expression phenotype",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "absent forelimb long bone in the metacarpus region",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent limb bone in the metacarpus region",
"absent organism subdivision",
- "Ectopic kidney",
- "abdominal segment of trunk",
- "cervical vertebra phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
+ "absent endochondral element in the metacarpus region",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "blood vessel phenotype",
+ "decreased length of mesoderm-derived structure",
+ "negative regulation of macromolecule metabolic process",
"abdominal segment element",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "eyeball of camera-type eye",
+ "absent autopodial extension",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "digit 1 plus metapodial segment",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "absent mesoderm-derived structure",
+ "absent metacarpal bone",
+ "absent anatomical entity",
+ "process",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "embryonic cardiovascular system",
+ "organism subdivision",
+ "craniocervical region musculature",
+ "regional part of brain phenotype",
+ "digit 1 or 5 phenotype",
+ "obsolete cell",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "programmed DNA elimination",
+ "multi-limb segment region",
+ "Facial palsy",
+ "digit",
+ "anatomical entity length phenotype",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "metacarpal bone of digit 1 morphology phenotype",
+ "anatomical system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "radius bone morphology phenotype",
+ "absent radius endochondral element in the forelimb",
+ "renal system morphology phenotype",
+ "metacarpal bone phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "lateral structure phenotype",
+ "negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormality of the kidney",
+ "trunk",
+ "Abnormality of the genitourinary system",
+ "forebrain",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "circulatory system",
+ "subdivision of organism along main body axis",
+ "renal system",
+ "Morphological central nervous system abnormality",
+ "Abnormality of the urinary system",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "biological_process",
"genitourinary system phenotype",
- "decreased size of the sense organ",
- "biogenic amine secreting cell",
- "interatrial septum morphology phenotype",
- "cavitated compound organ phenotype",
- "neck bone",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
+ "absent multicellular anatomical structure in the metacarpus region",
+ "manual digitopodium region",
+ "upper urinary tract",
+ "absent bone of free limb or fin in the metacarpus region",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "multi organ part structure phenotype",
+ "heart",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the head",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "Growth abnormality",
+ "cardiovascular system morphology phenotype",
+ "axial skeletal system",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "telencephalon phenotype",
+ "cellular organisms",
+ "Microcephaly",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "manus bone phenotype",
+ "Abnormal morphology of the radius",
+ "craniocervical region",
+ "forelimb skeleton",
+ "head morphology phenotype",
+ "regional part of nervous system phenotype",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "telencephalon",
+ "structure with developmental contribution from neural crest",
+ "decreased length of limb bone",
+ "ectoderm-derived structure",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "organ phenotype",
+ "absent bone of appendage girdle complex",
+ "skull morphology phenotype",
+ "Abnormal 1st metacarpal morphology",
+ "Abnormal brain morphology",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "autopod endochondral element",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "central nervous system",
+ "absent organ in the forelimb",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "localised anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "incomplete closing of the anatomical conduit",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "aplastic forelimb zeugopod bone",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "Limb undergrowth",
+ "radius endochondral element",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
+ "decreased size of the material anatomical entity",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "decreased size of the bone of free limb or fin",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "decreased length of anatomical structure",
"renal/urinary system phenotype",
- "appendicular skeleton",
- "Abnormal eye morphology",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
- "tube phenotype",
- "Leukemia",
- "localised abdomen element",
- "head phenotype",
- "anatomical entity",
- "primary circulatory organ",
- "localised organ",
- "incomplete closing of the anatomical entity",
- "kidney phenotype",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "absent radius bone",
+ "axial skeleton plus cranial skeleton",
+ "decreased size of the limb bone",
+ "absent short bone",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "nervous system",
+ "forelimb zeugopod bone",
+ "decreased length of multicellular anatomical structure",
"kidney",
- "abdominal segment element phenotype",
- "localised anatomical entity",
- "Abnormal localization of kidney",
- "genitourinary system",
- "simple eye",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "Urinary tract neoplasm",
- "decreased length of forelimb endochondral element",
- "Renal neoplasm",
- "vertebral column phenotype",
- "Embryonal neoplasm",
- "pectoral appendage skeleton",
- "Nephroblastoma",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "increased length of the head or neck skin",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent digit",
- "bone of dorsum",
- "aplastic anatomical entity",
- "neck",
- "Abnormality of the orbital region",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "digit",
- "head",
- "visual system phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "eye",
- "face phenotype",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "craniocervical region",
- "disconnected anatomical group",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "absent limb long bone",
+ "decreased size of the forelimb bone",
+ "Abnormal peripheral nervous system morphology",
+ "Abnormal upper limb bone morphology",
+ "Abnormal blood vessel morphology",
+ "decreased size of the arm bone",
"decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "eye phenotype",
- "increased length of the non-material anatomical boundary",
- "sensory system",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "skin of body",
- "number of platelet phenotype",
- "Abnormality of globe size",
- "material anatomical entity atresia",
- "trunk or cervical vertebra phenotype",
- "Abnormality of the eye",
- "vertebra phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "visual system",
- "decreased size of the manual digit",
- "continuant",
+ "number of anatomical enitites of type bone element phenotype",
+ "Abnormal forearm bone morphology",
+ "absent autopod endochondral element in the metacarpus region",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "bone of pectoral complex morphology phenotype",
+ "organ",
+ "decreased size of the anatomical structure",
"Abnormality of the face",
- "decreased size of the eyeball of camera-type eye",
- "immaterial entity",
- "entire sense organ system",
- "sense organ",
- "Acute leukemia",
- "Abnormal cellular immune system morphology",
- "Hematological neoplasm",
- "interventricular septum morphology phenotype",
- "immune system",
- "Cafe-au-lait spot",
- "neck bone phenotype",
- "hematopoietic precursor cell",
- "material entity",
- "leukocyte",
- "digit 1",
- "progenitor cell",
- "anatomical collection phenotype",
- "Abnormal immune system morphology",
- "leukocyte morphology phenotype",
- "craniofacial/craniocervical phenotype",
- "Decreased anatomical entity mass",
"decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "immune system morphology phenotype",
- "cell phenotype",
- "hematopoietic cell",
- "decreased size of the digit",
- "motile cell",
- "precursor cell",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "Abnormal cellular phenotype",
- "multicellular organism mass phenotype",
- "absent anatomical entity in the forelimb",
- "Abnormality of body weight",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "multicellular anatomical structure mass phenotype",
- "anatomical entity mass phenotype",
- "decreased material anatomical entity mass",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
+ "decreased size of the endochondral element",
+ "absent forelimb zeugopod bone",
+ "decreased length of forelimb endochondral element",
+ "metapodium region",
+ "Aplasia/hypoplasia involving forearm bones",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "absent arm bone in the forelimb",
+ "decreased length of endochondral bone",
+ "absent forelimb bone in the forelimb",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "peripheral nervous system morphology phenotype",
+ "Aplasia involving bones of the upper limbs",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "absent bone of pectoral complex in the limb",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "absent material anatomical entity in the skeletal system",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb endochondral element in the forelimb",
+ "number of anatomical enitites of type organ phenotype",
+ "radiale",
+ "anatomical entity physiology phenotype",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "Abnormal proximal phalanx morphology of the hand",
+ "absent limb bone in the forelimb",
+ "absent skeletal element in the limb",
+ "absent anatomical structure in the skeletal system",
+ "Patent ductus arteriosus",
+ "absent bone element",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "absent forelimb bone",
+ "absent manual digitopodium bone",
+ "absent organ",
+ "Absent radius",
+ "radiale phenotype",
+ "Absent forearm bone",
+ "Aplasia of the phalanges of the hand",
+ "subdivision of head",
+ "appendage girdle complex",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "absent bone element in the forelimb",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "absent limb endochondral element",
+ "facial muscle phenotype",
+ "systemic artery morphology phenotype",
+ "absent organ in the limb",
+ "absent endochondral element",
+ "absent endochondral bone in the forelimb",
+ "skeleton of manual digitopodium",
+ "localised organ",
+ "primary circulatory organ",
+ "absent endochondral bone",
+ "autopod region phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "absent radius bone in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "Short long bone",
+ "absent arm bone",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "absent bone of appendage girdle complex in the forelimb",
+ "absent skeletal element in the forelimb",
+ "arm bone phenotype",
+ "delayed growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"growth",
- "Neoplasm of the genitourinary tract",
- "decreased multicellular anatomical structure mass",
- "anatomical structure mass phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "body proper",
- "material anatomical entity mass phenotype",
- "Short forearm",
- "growth phenotype"
+ "growth phenotype",
+ "vasculature phenotype",
+ "decreased length of forelimb bone",
+ "anatomical structure morphology in the heart phenotype",
+ "anatomical entity morphology in the heart phenotype",
+ "Abnormal vascular morphology",
+ "absent digitopodium bone in the metacarpus region",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "incomplete closing of the blood vessel",
+ "absent bone of free limb or fin in the forelimb",
+ "artery",
+ "localised kidney",
+ "absent anatomical structure",
+ "conceptus",
+ "thoracic segment blood vessel"
],
- "has_phenotype_count": 25,
+ "has_phenotype_count": 11,
"highlight": null,
"score": null
}
diff --git a/frontend/fixtures/histopheno.json b/frontend/fixtures/histopheno.json
index e0860a339..30ed418f9 100644
--- a/frontend/fixtures/histopheno.json
+++ b/frontend/fixtures/histopheno.json
@@ -3,22 +3,22 @@
"items": [
{
"label": "musculature",
- "count": 2057,
+ "count": 2068,
"id": "UPHENO:0002816"
},
{
"label": "nervous_system",
- "count": 1113,
+ "count": 1126,
"id": "UPHENO:0004523"
},
{
"label": "head_neck",
- "count": 595,
+ "count": 597,
"id": "UPHENO:0002764"
},
{
"label": "skeletal_system",
- "count": 508,
+ "count": 509,
"id": "UPHENO:0002964"
},
{
@@ -28,12 +28,12 @@
},
{
"label": "metabolism_homeostasis",
- "count": 225,
+ "count": 228,
"id": "HP:0001939"
},
{
"label": "blood",
- "count": 183,
+ "count": 185,
"id": "UPHENO:0004459"
},
{
@@ -43,12 +43,12 @@
},
{
"label": "respiratory",
- "count": 157,
+ "count": 158,
"id": "UPHENO:0004536"
},
{
"label": "digestive_system",
- "count": 153,
+ "count": 154,
"id": "UPHENO:0002833"
},
{
@@ -73,7 +73,7 @@
},
{
"label": "ear",
- "count": 26,
+ "count": 28,
"id": "HP:0000598"
},
{
diff --git a/frontend/fixtures/mappings.json b/frontend/fixtures/mappings.json
index 4d01200d3..780bdee60 100644
--- a/frontend/fixtures/mappings.json
+++ b/frontend/fixtures/mappings.json
@@ -10,7 +10,7 @@
"object_id": "DOID:9884",
"object_label": "muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "ce156a1f-3e0f-4ffa-939f-14f63a0c16fb"
+ "id": "4f2e79ec-aeeb-4040-b382-ef6269bf2e65"
},
{
"subject_id": "MONDO:0020121",
@@ -19,7 +19,7 @@
"object_id": "ICD10CM:G71.0",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "6cc20a75-671a-4495-9c2f-10278696cf96"
+ "id": "63c3a2fa-4183-46ec-a931-84029dccd9c0"
},
{
"subject_id": "MONDO:0020121",
@@ -28,7 +28,7 @@
"object_id": "MEDGEN:44527",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "dbccfe32-a6aa-44a1-8b01-122c4415b2d1"
+ "id": "f6d14347-cb93-467d-9748-2b72e07cfd53"
},
{
"subject_id": "MONDO:0020121",
@@ -37,7 +37,7 @@
"object_id": "NCIT:C84910",
"object_label": "Muscular Dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "044c7473-5200-46b0-9882-ab151ddb7375"
+ "id": "3d4a3827-d4fc-42e5-afed-7e33a6cfa8ac"
},
{
"subject_id": "MONDO:0020121",
@@ -46,7 +46,7 @@
"object_id": "Orphanet:98473",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "898cbadf-be13-40db-8691-25d61ee4c1da"
+ "id": "9e915435-7914-4115-a06a-65f0052c087b"
},
{
"subject_id": "MONDO:0020121",
@@ -55,7 +55,7 @@
"object_id": "SCTID:73297009",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "da0a14f4-8938-43f2-85b8-c2c4f3c34d25"
+ "id": "0dd46d38-566d-411d-9969-f72477c4979d"
},
{
"subject_id": "MONDO:0020121",
@@ -64,7 +64,7 @@
"object_id": "UMLS:C0026850",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "2fd2bfe8-92de-442c-90d1-ea1b6bad89c4"
+ "id": "a3dfb55d-83e8-4c81-a08d-ca9a856adf3a"
},
{
"subject_id": "MONDO:0020121",
@@ -73,7 +73,7 @@
"object_id": "icd11.foundation:1464662404",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "528e3222-47ef-4753-8322-e7c7534ee984"
+ "id": "633a180e-cd8f-46e9-9501-f86b04efba22"
},
{
"subject_id": "MONDO:0020121",
@@ -82,7 +82,7 @@
"object_id": "MESH:D009136",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "b202ada7-9025-4f54-af8a-e99c008e51cf"
+ "id": "3a648314-ad03-4942-a741-7c181f1e7e5e"
}
]
}
diff --git a/frontend/fixtures/node.json b/frontend/fixtures/node.json
index 771879754..6651cddd1 100644
--- a/frontend/fixtures/node.json
+++ b/frontend/fixtures/node.json
@@ -140,17 +140,17 @@
"association_counts": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4115,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation"
},
{
"label": "Causal Gene",
- "count": 125,
+ "count": 126,
"category": "biolink:CausalGeneToDiseaseAssociation"
},
{
"label": "Correlated Gene",
- "count": 150,
+ "count": 151,
"category": "biolink:CorrelatedGeneToDiseaseAssociation"
},
{
@@ -160,7 +160,7 @@
},
{
"label": "Disease Model",
- "count": 238,
+ "count": 237,
"category": "biolink:GenotypeToDiseaseAssociation"
}
],
@@ -411,9 +411,9 @@
"has_phenotype_count": null
},
{
- "id": "MONDO:0018949",
+ "id": "MONDO:0019950",
"category": "biolink:Disease",
- "name": "distal myopathy",
+ "name": "congenital muscular dystrophy",
"full_name": null,
"deprecated": null,
"description": null,
@@ -433,9 +433,9 @@
"has_phenotype_count": null
},
{
- "id": "MONDO:0019950",
+ "id": "MONDO:0018949",
"category": "biolink:Disease",
- "name": "congenital muscular dystrophy",
+ "name": "distal myopathy",
"full_name": null,
"deprecated": null,
"description": null,
diff --git a/frontend/fixtures/phenotype-explorer-compare.json b/frontend/fixtures/phenotype-explorer-compare.json
index d03eecc00..1b8f5d773 100644
--- a/frontend/fixtures/phenotype-explorer-compare.json
+++ b/frontend/fixtures/phenotype-explorer-compare.json
@@ -77,8 +77,8 @@
"HP:0004325": {
"match_source": "HP:0004325",
"match_source_label": "Decreased body weight",
- "match_target": "MP:0010771",
- "match_target_label": "integument phenotype",
+ "match_target": "MP:0002169",
+ "match_target_label": "no abnormal phenotype detected",
"score": 1.5518735174643892,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -86,7 +86,7 @@
"subject_id": "HP:0004325",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0010771",
+ "object_id": "MP:0002169",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0001003",
@@ -95,10 +95,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 1.5518735174643892,
- "jaccard_similarity": 0.24,
+ "jaccard_similarity": 0.23076923076923078,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 0.6102865263066631
+ "phenodigm_score": 0.5984351743308522
},
"score_metric": "ancestor_information_content"
}
diff --git a/frontend/fixtures/phenotype-explorer-multi-compare.json b/frontend/fixtures/phenotype-explorer-multi-compare.json
index 4d5f63e28..5b315f4d4 100644
--- a/frontend/fixtures/phenotype-explorer-multi-compare.json
+++ b/frontend/fixtures/phenotype-explorer-multi-compare.json
@@ -22,36 +22,38 @@
"has_phenotype_closure_label": null,
"has_phenotype_count": null
},
- "score": 8.608834726850041,
+ "score": 8.60883472685004,
"similarity": {
"subject_termset": {
"HP:0002020": {
"id": "HP:0002020",
"label": "Gastroesophageal reflux"
},
- "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" },
- "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" },
"HP:0001533": { "id": "HP:0001533", "label": "Slender build" },
- "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" },
+ "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" },
"HP:0004944": {
"id": "HP:0004944",
"label": "Dilatation of the cerebral artery"
},
- "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }
+ "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" },
+ "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" },
+ "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }
},
"object_termset": {
+ "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" },
+ "MP:0011960": {
+ "id": "MP:0011960",
+ "label": "abnormal eye anterior chamber depth"
+ },
"MP:0011965": {
"id": "MP:0011965",
"label": "decreased total retina thickness"
},
+ "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" },
"MP:0008489": {
"id": "MP:0008489",
"label": "slow postnatal weight gain"
},
- "MP:0011962": {
- "id": "MP:0011962",
- "label": "increased cornea thickness"
- },
"MP:0003731": {
"id": "MP:0003731",
"label": "abnormal retina outer nuclear layer morphology"
@@ -60,19 +62,17 @@
"id": "MP:0003291",
"label": "interstinal hyperperistalsis"
},
- "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" },
- "MP:0011960": {
- "id": "MP:0011960",
- "label": "abnormal eye anterior chamber depth"
- },
- "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" }
+ "MP:0011962": {
+ "id": "MP:0011962",
+ "label": "increased cornea thickness"
+ }
},
"subject_best_matches": {
"HP:0001533": {
"match_source": "HP:0001533",
"match_source_label": "Slender build",
- "match_target": "MP:0001262",
- "match_target_label": "decreased body weight",
+ "match_target": "MP:0008489",
+ "match_target_label": "slow postnatal weight gain",
"score": 13.667892510789482,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -80,27 +80,27 @@
"subject_id": "HP:0001533",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0001262",
+ "object_id": "MP:0008489",
"object_label": null,
"object_source": null,
- "ancestor_id": "UPHENO:0082794",
- "ancestor_label": "Decreased multicellular organism mass",
+ "ancestor_id": "UPHENO:0054299",
+ "ancestor_label": "decreased multicellular organism mass",
"ancestor_source": null,
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 13.667892510789482,
- "jaccard_similarity": 0.40384615384615385,
+ "jaccard_similarity": 0.38333333333333336,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 2.34940967514501
+ "phenodigm_score": 2.2889645684900053
},
"score_metric": "ancestor_information_content"
},
"HP:0001763": {
"match_source": "HP:0001763",
"match_source_label": "Pes planus",
- "match_target": "MP:0011962",
- "match_target_label": "increased cornea thickness",
+ "match_target": "MP:0002834",
+ "match_target_label": "decreased heart weight",
"score": 3.066606173373863,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -108,7 +108,7 @@
"subject_id": "HP:0001763",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0011962",
+ "object_id": "MP:0002834",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0015280",
@@ -117,10 +117,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 3.066606173373863,
- "jaccard_similarity": 0.16049382716049382,
+ "jaccard_similarity": 0.203125,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 0.7015492578278222
+ "phenodigm_score": 0.7892429150563
},
"score_metric": "ancestor_information_content"
},
@@ -211,8 +211,8 @@
"HP:0010749": {
"match_source": "HP:0010749",
"match_source_label": "Blepharochalasis",
- "match_target": "MP:0011960",
- "match_target_label": "abnormal eye anterior chamber depth",
+ "match_target": "MP:0003731",
+ "match_target_label": "abnormal retina outer nuclear layer morphology",
"score": 6.6792078240173165,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -220,7 +220,7 @@
"subject_id": "HP:0010749",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0011960",
+ "object_id": "MP:0003731",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0087924",
@@ -229,10 +229,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 6.6792078240173165,
- "jaccard_similarity": 0.26865671641791045,
+ "jaccard_similarity": 0.23076923076923078,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.3395574053669028
+ "phenodigm_score": 1.2415134520802842
},
"score_metric": "ancestor_information_content"
},
@@ -309,8 +309,8 @@
"object_id": "HP:0001533",
"object_label": null,
"object_source": null,
- "ancestor_id": "UPHENO:0054261",
- "ancestor_label": "decreased anatomical entity mass",
+ "ancestor_id": "UPHENO:0082761",
+ "ancestor_label": "Decreased anatomical entity mass",
"ancestor_source": null,
"object_information_content": null,
"subject_information_content": null,
@@ -325,8 +325,8 @@
"MP:0003291": {
"match_source": "MP:0003291",
"match_source_label": "interstinal hyperperistalsis",
- "match_target": "HP:0002020",
- "match_target_label": "Gastroesophageal reflux",
+ "match_target": "HP:0012450",
+ "match_target_label": "Chronic constipation",
"score": 9.97713534604573,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -334,7 +334,7 @@
"subject_id": "MP:0003291",
"subject_label": null,
"subject_source": null,
- "object_id": "HP:0002020",
+ "object_id": "HP:0012450",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0002443",
@@ -343,10 +343,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 9.97713534604573,
- "jaccard_similarity": 0.3684210526315789,
+ "jaccard_similarity": 0.4117647058823529,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.9172341292700534
+ "phenodigm_score": 2.026877450985369
},
"score_metric": "ancestor_information_content"
},
@@ -393,8 +393,8 @@
"object_id": "HP:0001533",
"object_label": null,
"object_source": null,
- "ancestor_id": "UPHENO:0082794",
- "ancestor_label": "Decreased multicellular organism mass",
+ "ancestor_id": "UPHENO:0054299",
+ "ancestor_label": "decreased multicellular organism mass",
"ancestor_source": null,
"object_information_content": null,
"subject_information_content": null,
@@ -491,7 +491,7 @@
"score_metric": "ancestor_information_content"
}
},
- "average_score": 8.608834726850041,
+ "average_score": 8.60883472685004,
"best_score": 13.667892510789482,
"metric": "AncestorInformationContent"
}
@@ -522,54 +522,54 @@
"score": 7.343905449061465,
"similarity": {
"subject_termset": {
- "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" },
- "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" },
- "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" },
"HP:0002020": {
"id": "HP:0002020",
"label": "Gastroesophageal reflux"
},
"HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" },
"HP:0001533": { "id": "HP:0001533", "label": "Slender build" },
+ "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" },
"HP:0004944": {
"id": "HP:0004944",
"label": "Dilatation of the cerebral artery"
- }
+ },
+ "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" },
+ "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" }
},
"object_termset": {
- "MP:0003026": {
- "id": "MP:0003026",
- "label": "decreased vasoconstriction"
+ "MP:0006264": {
+ "id": "MP:0006264",
+ "label": "decreased systemic arterial systolic blood pressure"
+ },
+ "MP:0000230": {
+ "id": "MP:0000230",
+ "label": "abnormal systemic arterial blood pressure"
},
"MP:0004022": {
"id": "MP:0004022",
"label": "abnormal cone electrophysiology"
},
- "MP:0006264": {
- "id": "MP:0006264",
- "label": "decreased systemic arterial systolic blood pressure"
+ "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" },
+ "MP:0003070": {
+ "id": "MP:0003070",
+ "label": "increased vascular permeability"
},
- "MP:0004021": {
- "id": "MP:0004021",
- "label": "abnormal rod electrophysiology"
+ "MP:0003026": {
+ "id": "MP:0003026",
+ "label": "decreased vasoconstriction"
},
"MP:0009862": {
"id": "MP:0009862",
"label": "abnormal aorta elastic tissue morphology"
},
- "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" },
- "MP:0003070": {
- "id": "MP:0003070",
- "label": "increased vascular permeability"
+ "MP:0004021": {
+ "id": "MP:0004021",
+ "label": "abnormal rod electrophysiology"
},
"MP:0000272": {
"id": "MP:0000272",
"label": "abnormal aorta morphology"
},
- "MP:0000230": {
- "id": "MP:0000230",
- "label": "abnormal systemic arterial blood pressure"
- },
"MP:0000233": {
"id": "MP:0000233",
"label": "abnormal blood flow velocity"
@@ -635,8 +635,8 @@
"HP:0002020": {
"match_source": "HP:0002020",
"match_source_label": "Gastroesophageal reflux",
- "match_target": "MP:0004021",
- "match_target_label": "abnormal rod electrophysiology",
+ "match_target": "MP:0000230",
+ "match_target_label": "abnormal systemic arterial blood pressure",
"score": 5.132448071645384,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -644,7 +644,7 @@
"subject_id": "HP:0002020",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0004021",
+ "object_id": "MP:0000230",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0002332",
@@ -653,18 +653,18 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 5.132448071645384,
- "jaccard_similarity": 0.32432432432432434,
+ "jaccard_similarity": 0.35294117647058826,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.2901851622794578
+ "phenodigm_score": 1.3459020248817237
},
"score_metric": "ancestor_information_content"
},
"HP:0002616": {
"match_source": "HP:0002616",
"match_source_label": "Aortic root aneurysm",
- "match_target": "MP:0009862",
- "match_target_label": "abnormal aorta elastic tissue morphology",
+ "match_target": "MP:0000272",
+ "match_target_label": "abnormal aorta morphology",
"score": 9.580429669539143,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -672,7 +672,7 @@
"subject_id": "HP:0002616",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0009862",
+ "object_id": "MP:0000272",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0076809",
@@ -681,18 +681,18 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 9.580429669539143,
- "jaccard_similarity": 0.32075471698113206,
+ "jaccard_similarity": 0.36363636363636365,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.7529883077792243
+ "phenodigm_score": 1.8664920592129888
},
"score_metric": "ancestor_information_content"
},
"HP:0004944": {
"match_source": "HP:0004944",
"match_source_label": "Dilatation of the cerebral artery",
- "match_target": "MP:0000272",
- "match_target_label": "abnormal aorta morphology",
+ "match_target": "MP:0009862",
+ "match_target_label": "abnormal aorta elastic tissue morphology",
"score": 9.101342047182207,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -700,7 +700,7 @@
"subject_id": "HP:0004944",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0000272",
+ "object_id": "MP:0009862",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0087334",
@@ -709,10 +709,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 9.101342047182207,
- "jaccard_similarity": 0.2807017543859649,
+ "jaccard_similarity": 0.25757575757575757,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.5983624995321914
+ "phenodigm_score": 1.5311058332979641
},
"score_metric": "ancestor_information_content"
},
@@ -747,8 +747,8 @@
"HP:0012450": {
"match_source": "HP:0012450",
"match_source_label": "Chronic constipation",
- "match_target": "MP:0003070",
- "match_target_label": "increased vascular permeability",
+ "match_target": "MP:0004021",
+ "match_target_label": "abnormal rod electrophysiology",
"score": 5.132448071645384,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -756,7 +756,7 @@
"subject_id": "HP:0012450",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0003070",
+ "object_id": "MP:0004021",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0002332",
@@ -765,10 +765,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 5.132448071645384,
- "jaccard_similarity": 0.2926829268292683,
+ "jaccard_similarity": 0.36363636363636365,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.2256344982940082
+ "phenodigm_score": 1.3661422888285077
},
"score_metric": "ancestor_information_content"
}
@@ -777,8 +777,8 @@
"MP:0000230": {
"match_source": "MP:0000230",
"match_source_label": "abnormal systemic arterial blood pressure",
- "match_target": "HP:0002616",
- "match_target_label": "Aortic root aneurysm",
+ "match_target": "HP:0004944",
+ "match_target_label": "Dilatation of the cerebral artery",
"score": 7.3467487024345575,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -786,7 +786,7 @@
"subject_id": "MP:0000230",
"subject_label": null,
"subject_source": null,
- "object_id": "HP:0002616",
+ "object_id": "HP:0004944",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0080362",
@@ -795,18 +795,18 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 7.3467487024345575,
- "jaccard_similarity": 0.2558139534883721,
+ "jaccard_similarity": 0.19642857142857142,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.3709124081630277
+ "phenodigm_score": 1.2012956972635551
},
"score_metric": "ancestor_information_content"
},
"MP:0000233": {
"match_source": "MP:0000233",
"match_source_label": "abnormal blood flow velocity",
- "match_target": "HP:0004944",
- "match_target_label": "Dilatation of the cerebral artery",
+ "match_target": "HP:0002616",
+ "match_target_label": "Aortic root aneurysm",
"score": 7.3467487024345575,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -814,7 +814,7 @@
"subject_id": "MP:0000233",
"subject_label": null,
"subject_source": null,
- "object_id": "HP:0004944",
+ "object_id": "HP:0002616",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0080362",
@@ -823,10 +823,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 7.3467487024345575,
- "jaccard_similarity": 0.18333333333333332,
+ "jaccard_similarity": 0.23404255319148937,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.160561902174834
+ "phenodigm_score": 1.311278698055469
},
"score_metric": "ancestor_information_content"
},
@@ -1001,8 +1001,8 @@
"MP:0006264": {
"match_source": "MP:0006264",
"match_source_label": "decreased systemic arterial systolic blood pressure",
- "match_target": "HP:0004944",
- "match_target_label": "Dilatation of the cerebral artery",
+ "match_target": "HP:0002616",
+ "match_target_label": "Aortic root aneurysm",
"score": 7.3467487024345575,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -1010,7 +1010,7 @@
"subject_id": "MP:0006264",
"subject_label": null,
"subject_source": null,
- "object_id": "HP:0004944",
+ "object_id": "HP:0002616",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0080362",
@@ -1019,10 +1019,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 7.3467487024345575,
- "jaccard_similarity": 0.1896551724137931,
+ "jaccard_similarity": 0.24444444444444444,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.1804020043362502
+ "phenodigm_score": 1.340101453263729
},
"score_metric": "ancestor_information_content"
},
diff --git a/frontend/fixtures/phenotype-explorer-search.json b/frontend/fixtures/phenotype-explorer-search.json
index b6735348f..de8b0faff 100644
--- a/frontend/fixtures/phenotype-explorer-search.json
+++ b/frontend/fixtures/phenotype-explorer-search.json
@@ -31,62 +31,62 @@
"has_phenotype": ["ZP:0018569"],
"has_phenotype_label": ["myeloid cell development absent, abnormal"],
"has_phenotype_closure": [
- "GO:0030097",
+ "ZP:0018569",
"GO:0030154",
- "GO:0048468",
- "UPHENO:0034081",
"GO:0030099",
- "BFO:0000003",
- "PATO:0000001",
- "BFO:0000002",
- "BFO:0000015",
"UPHENO:0001003",
+ "GO:0030097",
+ "GO:0009987",
+ "GO:0048468",
"GO:0032502",
- "BFO:0000020",
- "GO:0061515",
+ "UPHENO:0001002",
+ "BFO:0000015",
+ "UPHENO:0034024",
+ "UPHENO:0034073",
+ "PATO:0000001",
"BFO:0000001",
+ "GO:0048856",
+ "GO:0061515",
"ZP:0000000",
- "UPHENO:0034073",
- "UPHENO:0034024",
- "ZP:0018569",
"GO:0048869",
"ZP:0014956",
- "UPHENO:0001002",
- "GO:0009987",
- "UPHENO:0001001",
"GO:0008150",
- "UPHENO:0078513",
"ZP:0131284",
- "GO:0048856"
+ "UPHENO:0078513",
+ "UPHENO:0034081",
+ "BFO:0000002",
+ "BFO:0000003",
+ "UPHENO:0001001",
+ "BFO:0000020"
],
"has_phenotype_closure_label": [
+ "absent cellular process",
+ "process",
+ "myeloid cell development absent, abnormal",
+ "occurrent",
"absent myeloid cell development",
+ "developmental process",
+ "cellular process",
+ "hemopoiesis quality, abnormal",
+ "biological_process",
+ "continuant",
+ "myeloid cell development",
+ "entity",
+ "hemopoiesis",
+ "taxon specific phenotype",
"cellular developmental process",
"specifically dependent continuant",
- "myeloid cell development absent, abnormal",
+ "phenotypic effect",
+ "myeloid cell differentiation",
"absent developmental process",
- "developmental process",
- "quality",
+ "cell development",
+ "biological_process quality, abnormal",
"Zebrafish Phenotype",
+ "quality",
"anatomical structure development",
- "occurrent",
- "biological_process quality, abnormal",
- "phenotype",
- "phenotypic effect",
- "process",
- "absent biological_process",
- "hemopoiesis",
- "cellular process",
- "cell development",
- "continuant",
"cell differentiation",
- "myeloid cell development",
- "myeloid cell differentiation",
- "absent cellular process",
- "hemopoiesis quality, abnormal",
- "entity",
- "biological_process",
- "taxon specific phenotype"
+ "absent biological_process",
+ "phenotype"
],
"has_phenotype_count": 1,
"type": ["SO:0001217"]
@@ -100,8 +100,8 @@
}
},
"object_termset": {
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
},
"subject_best_matches": {
"ZP:0018569": {
@@ -227,80 +227,80 @@
"myeloid cell development absent, abnormal"
],
"has_phenotype_closure": [
- "GO:0030099",
- "GO:0061515",
"UPHENO:0078513",
- "ZP:0018569",
- "GO:0030097",
- "GO:0048568",
- "ZP:0000000",
+ "GO:0061515",
+ "UPHENO:0001003",
"UPHENO:0078511",
- "BFO:0000001",
"BFO:0000020",
- "GO:0009790",
+ "ZP:0018569",
"UPHENO:0001001",
- "GO:0032501",
- "UPHENO:0034073",
- "ZP:0018568",
+ "GO:0009790",
"GO:0008150",
+ "ZP:0131284",
+ "GO:0048856",
"GO:0060215",
- "UPHENO:0034024",
- "UPHENO:0001002",
"GO:0007275",
- "ZP:0014956",
- "GO:0009987",
- "GO:0048869",
- "GO:0032502",
- "UPHENO:0001003",
- "GO:0048513",
+ "ZP:0000000",
+ "BFO:0000001",
+ "UPHENO:0034073",
+ "ZP:0018568",
"PATO:0000001",
- "GO:0048856",
- "ZP:0131284",
- "BFO:0000015",
- "BFO:0000003",
- "UPHENO:0034081",
"GO:0035162",
+ "UPHENO:0034081",
+ "BFO:0000015",
+ "UPHENO:0034024",
+ "GO:0030099",
+ "GO:0048869",
"BFO:0000002",
+ "ZP:0014956",
+ "GO:0048568",
+ "UPHENO:0001002",
+ "BFO:0000003",
+ "GO:0032502",
+ "GO:0048513",
+ "GO:0032501",
+ "GO:0030097",
"GO:0048468",
+ "GO:0009987",
"GO:0030154"
],
"has_phenotype_closure_label": [
"absent myeloid cell development",
"myeloid cell development",
- "continuant",
- "cell differentiation",
- "hemopoiesis quality, abnormal",
- "absent primitive hemopoiesis",
- "multicellular organismal process",
"myeloid cell differentiation",
- "embryonic hemopoiesis",
- "absent developmental process",
- "primitive hemopoiesis",
- "cell development",
- "animal organ development",
- "absent cellular process",
- "cellular process",
- "hemopoiesis",
- "entity",
- "process",
+ "cellular developmental process",
+ "absent biological_process",
"embryo development",
- "phenotypic effect",
- "phenotype",
+ "absent cellular process",
+ "Zebrafish Phenotype",
+ "embryonic organ development",
"biological_process quality, abnormal",
+ "cell development",
+ "absent developmental process",
+ "multicellular organism development",
+ "process",
"occurrent",
- "anatomical structure development",
+ "phenotypic effect",
"specifically dependent continuant",
- "taxon specific phenotype",
- "myeloid cell development absent, abnormal",
- "Zebrafish Phenotype",
- "quality",
- "developmental process",
- "absent biological_process",
+ "hemopoiesis",
+ "embryonic hemopoiesis",
+ "animal organ development",
+ "entity",
+ "absent primitive hemopoiesis",
+ "cell differentiation",
+ "anatomical structure development",
"primitive hemopoiesis absent, abnormal",
+ "multicellular organismal process",
+ "continuant",
"biological_process",
- "cellular developmental process",
- "embryonic organ development",
- "multicellular organism development"
+ "phenotype",
+ "quality",
+ "taxon specific phenotype",
+ "hemopoiesis quality, abnormal",
+ "cellular process",
+ "developmental process",
+ "myeloid cell development absent, abnormal",
+ "primitive hemopoiesis"
],
"has_phenotype_count": 2,
"type": ["SO:0001217"]
@@ -308,13 +308,13 @@
"score": 7.011754466426716,
"similarity": {
"subject_termset": {
- "ZP:0018569": {
- "id": "ZP:0018569",
- "label": "myeloid cell development absent, abnormal"
- },
"ZP:0018568": {
"id": "ZP:0018568",
"label": "primitive hemopoiesis absent, abnormal"
+ },
+ "ZP:0018569": {
+ "id": "ZP:0018569",
+ "label": "myeloid cell development absent, abnormal"
}
},
"object_termset": {
@@ -411,8 +411,8 @@
"HP:0012378": {
"match_source": "HP:0012378",
"match_source_label": "Fatigue",
- "match_target": "ZP:0018569",
- "match_target_label": "myeloid cell development absent, abnormal",
+ "match_target": "ZP:0018568",
+ "match_target_label": "primitive hemopoiesis absent, abnormal",
"score": 1.6752927740139332,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -420,7 +420,7 @@
"subject_id": "HP:0012378",
"subject_label": null,
"subject_source": null,
- "object_id": "ZP:0018569",
+ "object_id": "ZP:0018568",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0001005",
@@ -471,80 +471,80 @@
"primitive hemopoiesis absent, abnormal"
],
"has_phenotype_closure": [
- "GO:0009790",
- "ZP:0018568",
+ "GO:0060215",
"GO:0048513",
+ "GO:0009790",
"UPHENO:0078511",
- "GO:0032501",
- "GO:0048856",
- "ZP:0131284",
+ "GO:0035162",
+ "BFO:0000020",
+ "BFO:0000002",
"UPHENO:0078513",
"GO:0008150",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "GO:0007275",
- "ZP:0014956",
- "GO:0009987",
- "GO:0048869",
- "ZP:0018569",
- "UPHENO:0034024",
- "GO:0060215",
- "UPHENO:0034073",
"GO:0048568",
+ "ZP:0014956",
+ "GO:0061515",
+ "ZP:0131284",
+ "GO:0048856",
"ZP:0000000",
"BFO:0000001",
- "GO:0061515",
- "BFO:0000020",
- "GO:0032502",
- "UPHENO:0001003",
- "BFO:0000015",
"PATO:0000001",
+ "UPHENO:0034073",
+ "ZP:0018568",
+ "UPHENO:0034024",
+ "UPHENO:0034081",
+ "BFO:0000015",
+ "UPHENO:0001002",
"BFO:0000003",
+ "GO:0032502",
+ "GO:0032501",
+ "GO:0030097",
+ "UPHENO:0001003",
+ "GO:0048869",
"GO:0030099",
- "UPHENO:0034081",
- "GO:0035162",
- "BFO:0000002",
"GO:0048468",
+ "GO:0009987",
"GO:0030154",
- "GO:0030097"
+ "UPHENO:0001001",
+ "ZP:0018569",
+ "GO:0007275"
],
"has_phenotype_closure_label": [
+ "multicellular organismal process",
+ "embryonic hemopoiesis",
"multicellular organism development",
+ "absent biological_process",
+ "embryo development",
"absent primitive hemopoiesis",
- "multicellular organismal process",
- "animal organ development",
- "taxon specific phenotype",
- "biological_process",
- "entity",
- "hemopoiesis quality, abnormal",
- "myeloid cell development",
"cell differentiation",
- "continuant",
- "primitive hemopoiesis",
- "cell development",
- "absent cellular process",
- "cellular process",
- "hemopoiesis",
"primitive hemopoiesis absent, abnormal",
- "absent biological_process",
- "process",
+ "anatomical structure development",
"phenotype",
+ "quality",
+ "embryonic organ development",
"biological_process quality, abnormal",
- "occurrent",
- "anatomical structure development",
- "developmental process",
+ "cell development",
"absent developmental process",
"myeloid cell differentiation",
- "embryonic hemopoiesis",
- "Zebrafish Phenotype",
- "quality",
- "myeloid cell development absent, abnormal",
+ "phenotypic effect",
"specifically dependent continuant",
- "embryonic organ development",
"cellular developmental process",
+ "hemopoiesis",
+ "entity",
+ "myeloid cell development",
+ "animal organ development",
+ "continuant",
+ "biological_process",
+ "taxon specific phenotype",
+ "hemopoiesis quality, abnormal",
+ "cellular process",
+ "developmental process",
"absent myeloid cell development",
- "phenotypic effect",
- "embryo development"
+ "occurrent",
+ "primitive hemopoiesis",
+ "myeloid cell development absent, abnormal",
+ "process",
+ "Zebrafish Phenotype",
+ "absent cellular process"
],
"has_phenotype_count": 2,
"type": ["SO:0001217"]
@@ -552,18 +552,18 @@
"score": 7.011754466426716,
"similarity": {
"subject_termset": {
- "ZP:0018568": {
- "id": "ZP:0018568",
- "label": "primitive hemopoiesis absent, abnormal"
- },
"ZP:0018569": {
"id": "ZP:0018569",
"label": "myeloid cell development absent, abnormal"
+ },
+ "ZP:0018568": {
+ "id": "ZP:0018568",
+ "label": "primitive hemopoiesis absent, abnormal"
}
},
"object_termset": {
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
},
"subject_best_matches": {
"ZP:0018568": {
@@ -722,80 +722,80 @@
"myeloid cell development absent, abnormal"
],
"has_phenotype_closure": [
- "GO:0030099",
- "GO:0061515",
"UPHENO:0078513",
- "ZP:0018569",
- "GO:0030097",
- "GO:0048568",
- "ZP:0000000",
+ "GO:0061515",
+ "UPHENO:0001003",
"UPHENO:0078511",
- "BFO:0000001",
"BFO:0000020",
- "GO:0009790",
+ "ZP:0018569",
"UPHENO:0001001",
- "GO:0032501",
- "UPHENO:0034073",
- "ZP:0018568",
+ "GO:0009790",
"GO:0008150",
+ "ZP:0131284",
+ "GO:0048856",
"GO:0060215",
- "UPHENO:0034024",
- "UPHENO:0001002",
"GO:0007275",
- "ZP:0014956",
- "GO:0009987",
- "GO:0048869",
- "GO:0032502",
- "UPHENO:0001003",
- "GO:0048513",
+ "ZP:0000000",
+ "BFO:0000001",
+ "UPHENO:0034073",
+ "ZP:0018568",
"PATO:0000001",
- "GO:0048856",
- "ZP:0131284",
- "BFO:0000015",
- "BFO:0000003",
- "UPHENO:0034081",
"GO:0035162",
+ "UPHENO:0034081",
+ "BFO:0000015",
+ "UPHENO:0034024",
+ "GO:0030099",
+ "GO:0048869",
"BFO:0000002",
+ "ZP:0014956",
+ "GO:0048568",
+ "UPHENO:0001002",
+ "BFO:0000003",
+ "GO:0032502",
+ "GO:0048513",
+ "GO:0032501",
+ "GO:0030097",
"GO:0048468",
+ "GO:0009987",
"GO:0030154"
],
"has_phenotype_closure_label": [
"absent myeloid cell development",
"myeloid cell development",
- "continuant",
- "cell differentiation",
- "hemopoiesis quality, abnormal",
- "absent primitive hemopoiesis",
- "multicellular organismal process",
"myeloid cell differentiation",
- "embryonic hemopoiesis",
- "absent developmental process",
- "primitive hemopoiesis",
- "cell development",
- "animal organ development",
- "absent cellular process",
- "cellular process",
- "hemopoiesis",
- "entity",
- "process",
+ "cellular developmental process",
+ "absent biological_process",
"embryo development",
- "phenotypic effect",
- "phenotype",
+ "absent cellular process",
+ "Zebrafish Phenotype",
+ "embryonic organ development",
"biological_process quality, abnormal",
+ "cell development",
+ "absent developmental process",
+ "multicellular organism development",
+ "process",
"occurrent",
- "anatomical structure development",
+ "phenotypic effect",
"specifically dependent continuant",
- "taxon specific phenotype",
- "myeloid cell development absent, abnormal",
- "Zebrafish Phenotype",
- "quality",
- "developmental process",
- "absent biological_process",
+ "hemopoiesis",
+ "embryonic hemopoiesis",
+ "animal organ development",
+ "entity",
+ "absent primitive hemopoiesis",
+ "cell differentiation",
+ "anatomical structure development",
"primitive hemopoiesis absent, abnormal",
+ "multicellular organismal process",
+ "continuant",
"biological_process",
- "cellular developmental process",
- "embryonic organ development",
- "multicellular organism development"
+ "phenotype",
+ "quality",
+ "taxon specific phenotype",
+ "hemopoiesis quality, abnormal",
+ "cellular process",
+ "developmental process",
+ "myeloid cell development absent, abnormal",
+ "primitive hemopoiesis"
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@@ -803,18 +803,18 @@
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- "label": "myeloid cell development absent, abnormal"
- },
"ZP:0018568": {
"id": "ZP:0018568",
"label": "primitive hemopoiesis absent, abnormal"
+ },
+ "ZP:0018569": {
+ "id": "ZP:0018569",
+ "label": "myeloid cell development absent, abnormal"
}
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- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
},
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@@ -878,8 +878,8 @@
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"match_source_label": "Apnea",
- "match_target": "ZP:0018568",
- "match_target_label": "primitive hemopoiesis absent, abnormal",
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@@ -887,7 +887,7 @@
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@@ -906,8 +906,8 @@
"HP:0012378": {
"match_source": "HP:0012378",
"match_source_label": "Fatigue",
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- "match_target_label": "primitive hemopoiesis absent, abnormal",
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@@ -915,7 +915,7 @@
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@@ -967,86 +967,86 @@
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"namespace": "ZFIN",
- "has_phenotype": ["ZP:0018568", "ZP:0018569"],
+ "has_phenotype": ["ZP:0018569", "ZP:0018568"],
"has_phenotype_label": [
- "primitive hemopoiesis absent, abnormal",
- "myeloid cell development absent, abnormal"
+ "myeloid cell development absent, abnormal",
+ "primitive hemopoiesis absent, abnormal"
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- "primitive hemopoiesis absent, abnormal",
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"cellular developmental process",
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+ "entity",
+ "myeloid cell development",
+ "animal organ development",
+ "continuant",
+ "biological_process",
+ "taxon specific phenotype",
+ "hemopoiesis quality, abnormal",
+ "cellular process",
+ "developmental process",
+ "absent myeloid cell development",
+ "occurrent",
+ "primitive hemopoiesis",
+ "myeloid cell development absent, abnormal",
+ "process",
+ "Zebrafish Phenotype",
+ "absent cellular process"
],
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@@ -1054,13 +1054,13 @@
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- "label": "primitive hemopoiesis absent, abnormal"
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"label": "myeloid cell development absent, abnormal"
+ },
+ "ZP:0018568": {
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+ "label": "primitive hemopoiesis absent, abnormal"
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@@ -1157,8 +1157,8 @@
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- "match_target_label": "primitive hemopoiesis absent, abnormal",
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@@ -1166,7 +1166,7 @@
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@@ -1211,84 +1211,84 @@
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+ "anatomical structure",
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@@ -1296,13 +1296,13 @@
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@@ -1408,7 +1408,7 @@
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@@ -1447,70 +1447,70 @@
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"namespace": "ZFIN",
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+ "has_phenotype": ["ZP:0015039", "ZP:0001841"],
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+ "visual behavior absent, abnormal",
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+ "response to abiotic stimulus",
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+ "UBERON:0005423",
+ "UPHENO:0002531",
+ "BFO:0000020",
+ "PATO:0000001",
"UBERON:0004921",
- "UPHENO:0003025",
- "UPHENO:0002568",
- "UPHENO:0002949",
- "UBERON:0000481",
- "NCBITaxon:33208",
- "UPHENO:0002988",
+ "UPHENO:0001002",
+ "ZP:0107307",
+ "UPHENO:0002525",
"UBERON:0009145",
- "UPHENO:0002844",
- "UBERON:0004111",
+ "NCBITaxon:131567",
+ "UBERON:0000025",
+ "UPHENO:0003021",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ "BFO:0000040",
"UBERON:0000153",
- "UBERON:0013701",
- "NCBITaxon:6072",
- "UPHENO:0002764",
- "UPHENO:0002531",
- "UBERON:0005423"
+ "NCBITaxon:33154",
+ "NCBITaxon:33208",
+ "UBERON:0000465",
+ "UBERON:0013702",
+ "UPHENO:0002536",
+ "UBERON:0007811",
+ "UPHENO:0002902",
+ "UPHENO:0001003",
+ "UPHENO:0003446",
+ "UBERON:0000064",
+ "UBERON:0000033",
+ "UBERON:0001007",
+ "ZP:0000395"
],
"has_phenotype_closure_label": [
- "pharyngeal arch non-functional, abnormal",
- "digestive system",
- "cellular organisms",
- "organ phenotype",
- "Opisthokonta",
"pharyngeal arch",
+ "subdivision of tube",
+ "zone of organ",
+ "pharyngeal arch system",
+ "phenotypic effect",
"pharyngeal arch phenotype",
+ "anatomical entity",
"multi-tissue structure quality, abnormal",
- "organ part phenotype",
- "specifically dependent continuant",
- "structure with developmental contribution from neural crest",
- "multi organ part structure phenotype",
- "main body axis",
- "subdivision of organism along main body axis",
- "anterior region of body",
- "taxon specific phenotype",
- "digestive tract",
- "embryonic head",
- "craniocervical region",
- "multicellular anatomical structure phenotype",
- "anatomical system",
"phenotype",
- "developing anatomical structure",
- "Eumetazoa",
- "phenotypic effect",
- "multicellular organism",
+ "embryo",
+ "taxon specific phenotype",
+ "multi organ part structure",
"pharyngeal arch physical object quality, abnormal",
+ "quality",
+ "root",
+ "independent continuant",
+ "zebrafish anatomical entity quality, abnormal",
+ "entity",
+ "specifically dependent continuant",
"subdivision of digestive tract",
+ "anatomical conduit",
+ "anatomical structure quality, abnormal",
+ "material anatomical entity phenotype",
+ "material anatomical entity",
+ "Zebrafish Phenotype",
+ "Eukaryota",
+ "anterior region of body",
+ "anatomical structure",
"protuberance",
"organism subdivision",
- "subdivision of tube",
- "material entity",
- "continuant",
- "anatomical conduit",
- "organ",
+ "embryonic head",
+ "pharyngeal region of foregut",
"head",
- "structure with developmental contribution from neural crest phenotype",
- "tube",
- "subdivision of digestive tract phenotype",
- "developing anatomical structure phenotype",
- "anatomical entity",
+ "multicellular organism",
"multi-tissue structure phenotype",
- "zebrafish anatomical entity quality, abnormal",
- "anatomical system phenotype",
- "subdivision of organism along main body axis phenotype",
- "tube phenotype",
- "entity",
+ "developing anatomical structure",
+ "Eumetazoa",
+ "structure with developmental contribution from neural crest phenotype",
+ "Opisthokonta",
+ "cellular organisms",
+ "pharyngeal arch non-functional, abnormal",
+ "organ part phenotype",
+ "body proper",
"foregut",
- "digestive system phenotype",
- "pharyngeal region of foregut",
- "anatomical structure quality, abnormal",
- "multi organ part structure",
+ "craniocervical region",
+ "pharyngeal arch quality, abnormal",
+ "Metazoa",
"multi-tissue structure",
- "organism subdivision phenotype",
- "body proper",
- "anatomical entity phenotype",
- "Eukaryota",
- "protuberance phenotype",
- "Zebrafish Phenotype",
- "zone of organ",
- "anatomical structure",
- "head phenotype",
- "quality",
- "multicellular organism phenotype",
- "multicellular anatomical structure",
+ "tube",
"zone of organ phenotype",
- "material anatomical entity",
- "anatomical conduit phenotype",
- "material anatomical entity phenotype",
- "craniocervical region phenotype",
- "subdivision of tube phenotype",
- "Metazoa",
- "embryo",
- "foregut phenotype",
+ "continuant",
+ "anatomical structure phenotype",
+ "anatomical system",
+ "organ",
"organism",
- "pharyngeal arch quality, abnormal",
+ "digestive system",
+ "multicellular anatomical structure phenotype",
+ "structure with developmental contribution from neural crest",
+ "multicellular anatomical structure",
+ "protuberance phenotype",
+ "anatomical entity phenotype",
+ "digestive tract",
+ "material entity",
"organ part",
- "anatomical structure phenotype",
- "pharyngeal arch system",
- "embryo phenotype",
- "root",
- "independent continuant"
+ "subdivision of organism along main body axis",
+ "main body axis"
],
"has_phenotype_count": 1,
"type": ["SO:0001217"]
@@ -1857,8 +1825,8 @@
}
},
"object_termset": {
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
},
"subject_best_matches": {
"ZP:0005756": {
@@ -1980,58 +1948,58 @@
"has_phenotype": ["ZP:0001432"],
"has_phenotype_label": ["whole organism morphology, abnormal"],
"has_phenotype_closure": [
- "UPHENO:0002530",
- "UBERON:0001062",
- "BFO:0000040",
- "ZP:0013613",
- "ZP:0000000",
"ZP:0107311",
- "UPHENO:0001002",
+ "ZP:0000000",
"ZP:0001432",
+ "BFO:0000040",
+ "ZP:0013613",
"ZP:0100009",
- "PATO:0000001",
- "BFO:0000002",
- "UPHENO:0002949",
- "UPHENO:0001003",
- "BFO:0000004",
- "UBERON:0000465",
+ "UPHENO:0001002",
+ "UPHENO:0002536",
+ "UPHENO:0002530",
+ "UBERON:0001062",
"UPHENO:0001001",
- "UBERON:0010000",
- "UBERON:0000061",
+ "UBERON:0000468",
+ "UPHENO:0001003",
+ "UPHENO:0002949",
"BFO:0000020",
- "BFO:0000001",
- "UPHENO:0002536",
"ZP:0107301",
+ "UPHENO:0002568",
+ "UBERON:0010000",
+ "BFO:0000004",
+ "BFO:0000002",
+ "UBERON:0000061",
"UPHENO:0002525",
- "UBERON:0000468",
- "UPHENO:0002568"
+ "PATO:0000001",
+ "BFO:0000001",
+ "UBERON:0000465"
],
"has_phenotype_closure_label": [
- "phenotypic effect",
+ "phenotype",
+ "material entity",
"multicellular anatomical structure",
+ "material anatomical entity",
+ "entity",
+ "whole organism physical object quality, abnormal",
+ "zebrafish anatomical entity quality, abnormal",
+ "whole organism morphology, abnormal",
+ "taxon specific phenotype",
+ "multicellular anatomical structure phenotype",
+ "quality",
+ "anatomical entity",
+ "material anatomical entity phenotype",
"anatomical structure quality, abnormal",
"anatomical structure phenotype",
- "quality",
- "Zebrafish Phenotype",
"anatomical entity phenotype",
- "taxon specific phenotype",
- "anatomical structure",
- "whole organism physical object quality, abnormal",
- "multicellular anatomical structure phenotype",
+ "specifically dependent continuant",
+ "phenotypic effect",
"multicellular organism",
"independent continuant",
- "continuant",
- "phenotype",
"multicellular organism phenotype",
- "whole organism morphology, abnormal",
- "zebrafish anatomical entity quality, abnormal",
- "specifically dependent continuant",
- "anatomical entity",
+ "anatomical structure",
+ "continuant",
"whole organism quality, abnormal",
- "material entity",
- "material anatomical entity",
- "material anatomical entity phenotype",
- "entity"
+ "Zebrafish Phenotype"
],
"has_phenotype_count": 1,
"type": ["SO:0001217"]
@@ -2045,8 +2013,8 @@
}
},
"object_termset": {
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
},
"subject_best_matches": {
"ZP:0001432": {
@@ -2168,58 +2136,58 @@
"has_phenotype": ["ZP:0001432"],
"has_phenotype_label": ["whole organism morphology, abnormal"],
"has_phenotype_closure": [
- "UPHENO:0002530",
- "UBERON:0001062",
- "BFO:0000040",
- "ZP:0013613",
- "ZP:0000000",
"ZP:0107311",
- "UPHENO:0001002",
+ "ZP:0000000",
"ZP:0001432",
+ "BFO:0000040",
+ "ZP:0013613",
"ZP:0100009",
- "PATO:0000001",
- "BFO:0000002",
- "UPHENO:0002949",
- "UPHENO:0001003",
- "BFO:0000004",
- "UBERON:0000465",
+ "UPHENO:0001002",
+ "UPHENO:0002536",
+ "UPHENO:0002530",
+ "UBERON:0001062",
"UPHENO:0001001",
- "UBERON:0010000",
- "UBERON:0000061",
+ "UBERON:0000468",
+ "UPHENO:0001003",
+ "UPHENO:0002949",
"BFO:0000020",
- "BFO:0000001",
- "UPHENO:0002536",
"ZP:0107301",
+ "UPHENO:0002568",
+ "UBERON:0010000",
+ "BFO:0000004",
+ "BFO:0000002",
+ "UBERON:0000061",
"UPHENO:0002525",
- "UBERON:0000468",
- "UPHENO:0002568"
+ "PATO:0000001",
+ "BFO:0000001",
+ "UBERON:0000465"
],
"has_phenotype_closure_label": [
- "phenotypic effect",
+ "phenotype",
+ "material entity",
"multicellular anatomical structure",
+ "material anatomical entity",
+ "entity",
+ "whole organism physical object quality, abnormal",
+ "zebrafish anatomical entity quality, abnormal",
+ "whole organism morphology, abnormal",
+ "taxon specific phenotype",
+ "multicellular anatomical structure phenotype",
+ "quality",
+ "anatomical entity",
+ "material anatomical entity phenotype",
"anatomical structure quality, abnormal",
"anatomical structure phenotype",
- "quality",
- "Zebrafish Phenotype",
"anatomical entity phenotype",
- "taxon specific phenotype",
- "anatomical structure",
- "whole organism physical object quality, abnormal",
- "multicellular anatomical structure phenotype",
+ "specifically dependent continuant",
+ "phenotypic effect",
"multicellular organism",
"independent continuant",
- "continuant",
- "phenotype",
"multicellular organism phenotype",
- "whole organism morphology, abnormal",
- "zebrafish anatomical entity quality, abnormal",
- "specifically dependent continuant",
- "anatomical entity",
+ "anatomical structure",
+ "continuant",
"whole organism quality, abnormal",
- "material entity",
- "material anatomical entity",
- "material anatomical entity phenotype",
- "entity"
+ "Zebrafish Phenotype"
],
"has_phenotype_count": 1,
"type": ["SO:0001217"]
@@ -2233,8 +2201,8 @@
}
},
"object_termset": {
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
},
"subject_best_matches": {
"ZP:0001432": {
diff --git a/frontend/fixtures/search.json b/frontend/fixtures/search.json
index b326eb99c..9d99f7441 100644
--- a/frontend/fixtures/search.json
+++ b/frontend/fixtures/search.json
@@ -45,35 +45,48 @@
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0100867",
- "HP:0100760",
+ "HP:0000047",
+ "HP:0002575",
+ "HP:0000483",
+ "HP:0000238",
+ "HP:0001249",
+ "HP:0001000",
"HP:0100587",
- "HP:0100542",
"HP:0100026",
"HP:0040071",
+ "HP:0006824",
+ "HP:0005344",
+ "HP:0002414",
+ "HP:0000582",
+ "HP:0000518",
+ "HP:0000508",
+ "HP:0000252",
+ "HP:0010469",
+ "HP:0000377",
+ "HP:0002119",
+ "HP:0001392",
+ "HP:0000864",
+ "HP:0000316",
+ "HP:0000027",
+ "HP:0002863",
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100542",
"HP:0012639",
"HP:0012041",
- "HP:0010469",
"HP:0010293",
"HP:0008678",
- "HP:0000377",
"HP:0008053",
"HP:0007565",
- "HP:0006824",
"HP:0006265",
"HP:0006101",
- "HP:0005344",
"HP:0004349",
"HP:0004209",
"HP:0003022",
- "HP:0002863",
"HP:0002827",
"HP:0002823",
- "HP:0002575",
- "HP:0002414",
"HP:0002251",
"HP:0002245",
- "HP:0002119",
"HP:0002023",
"HP:0002007",
"HP:0001824",
@@ -90,22 +103,16 @@
"HP:0001537",
"HP:0001511",
"HP:0001510",
- "HP:0001392",
"HP:0001347",
"HP:0001199",
- "HP:0000864",
"HP:0000813",
"HP:0000639",
- "HP:0000582",
"HP:0000568",
"HP:0000520",
- "HP:0000518",
- "HP:0000508",
"HP:0000505",
"HP:0000504",
"HP:0000492",
"HP:0000486",
- "HP:0000483",
"HP:0000478",
"HP:0000453",
"HP:0000365",
@@ -113,20 +120,16 @@
"HP:0000347",
"HP:0000340",
"HP:0000324",
- "HP:0000316",
"HP:0000286",
"HP:0000268",
- "HP:0000238",
"HP:0000218",
"HP:0000175",
"HP:0000135",
"HP:0000130",
"HP:0000083",
"HP:0000072",
- "HP:0000047",
"HP:0000035",
"HP:0000028",
- "HP:0000027",
"HP:0000010",
"HP:0012745",
"HP:0012210",
@@ -135,8 +138,6 @@
"HP:0002650",
"HP:0001671",
"HP:0001263",
- "HP:0001249",
- "HP:0000252",
"HP:0000079",
"HP:0007400",
"HP:0006501",
@@ -149,39 +150,51 @@
"HP:0001873",
"HP:0001871",
"HP:0001172",
- "HP:0001053",
- "HP:0001000"
+ "HP:0001053"
],
"has_phenotype_label": [
- "Duodenal stenosis",
- "Clubbing of toes",
+ "Hypospadias",
+ "Tracheoesophageal fistula",
+ "Astigmatism",
+ "Hydrocephalus",
+ "Intellectual disability",
+ "Abnormality of skin pigmentation",
"Abnormal preputium morphology",
- "Abnormal localization of kidney",
"Arteriovenous malformation",
"Abnormal morphology of ulna",
+ "Cranial nerve paralysis",
+ "Abnormal carotid artery morphology",
+ "Spina bifida",
+ "Upslanted palpebral fissure",
+ "Cataract",
+ "Ptosis",
+ "Microcephaly",
+ "Absent testis",
+ "Abnormal pinna morphology",
+ "Ventriculomegaly",
+ "Abnormality of the liver",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Hypertelorism",
+ "Azoospermia",
+ "Myelodysplasia",
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal localization of kidney",
"Abnormal nervous system morphology",
"Decreased fertility in males",
- "Absent testis",
"Aplasia/Hypoplasia of the uvula",
"Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
"Aplasia/Hypoplasia of the iris",
"Multiple cafe-au-lait spots",
- "Cranial nerve paralysis",
"Aplasia/Hypoplasia of fingers",
"Finger syndactyly",
- "Abnormal carotid artery morphology",
"Reduced bone mineral density",
"Clinodactyly of the 5th finger",
"Hypoplasia of the ulna",
- "Myelodysplasia",
"Hip dislocation",
"Abnormal femur morphology",
- "Tracheoesophageal fistula",
- "Spina bifida",
"Aganglionic megacolon",
"Meckel diverticulum",
- "Ventriculomegaly",
"Anal atresia",
"Frontal bossing",
"Weight loss",
@@ -198,22 +211,16 @@
"Umbilical hernia",
"Intrauterine growth retardation",
"Growth delay",
- "Abnormality of the liver",
"Hyperreflexia",
"Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
"Bicornuate uterus",
"Nystagmus",
- "Upslanted palpebral fissure",
"Microphthalmia",
"Proptosis",
- "Cataract",
- "Ptosis",
"Visual impairment",
"Abnormality of vision",
"Abnormal eyelid morphology",
"Strabismus",
- "Astigmatism",
"Abnormality of the eye",
"Choanal atresia",
"Hearing impairment",
@@ -221,20 +228,16 @@
"Micrognathia",
"Sloping forehead",
"Facial asymmetry",
- "Hypertelorism",
"Epicanthus",
"Dolichocephaly",
- "Hydrocephalus",
"High palate",
"Cleft palate",
"Hypogonadism",
"Abnormality of the uterus",
"Renal insufficiency",
"Hydroureter",
- "Hypospadias",
"Abnormal testis morphology",
"Cryptorchidism",
- "Azoospermia",
"Recurrent urinary tract infections",
"Short palpebral fissure",
"Abnormal renal morphology",
@@ -243,8 +246,6 @@
"Scoliosis",
"Abnormal cardiac septum morphology",
"Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
"Abnormality of the urinary system",
"Irregular hyperpigmentation",
"Aplasia/Hypoplasia of the radius",
@@ -257,16815 +258,17249 @@
"Thrombocytopenia",
"Abnormality of blood and blood-forming tissues",
"Abnormal thumb morphology",
- "Hypopigmented skin patches",
- "Abnormality of skin pigmentation"
+ "Hypopigmented skin patches"
],
"has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
- "UPHENO:0077889",
+ "HP:0001010",
+ "HP:0001873",
+ "UPHENO:0080010",
+ "CL:0000457",
"UPHENO:0077373",
- "UPHENO:0077391",
- "HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
+ "CL:0000233",
+ "CL:0000458",
+ "UPHENO:0085344",
+ "HP:0011875",
+ "UPHENO:0086173",
+ "HP:0011893",
"CL:0000738",
+ "UPHENO:0088166",
+ "UPHENO:0035160",
+ "UPHENO:0088319",
+ "UPHENO:0076675",
+ "UBERON:0000179",
"CL:0000255",
- "HP:0001881",
- "UPHENO:0063722",
+ "CL:0000219",
+ "UBERON:0000178",
+ "UPHENO:0077348",
"UPHENO:0085410",
- "UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
+ "UPHENO:0049904",
+ "GO:0008152",
"HP:0003220",
- "HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
"HP:0000002",
+ "UPHENO:0080351",
"UPHENO:0075159",
- "HP:0004322",
- "GO:0034101",
+ "HP:0010972",
+ "GO:0030099",
+ "GO:0030097",
+ "CL:0000988",
+ "GO:0048872",
+ "GO:0042592",
+ "GO:0002376",
+ "GO:0009987",
"HP:0001877",
- "HP:0001903",
- "GO:0030218",
+ "CL:0000232",
+ "HP:0005522",
+ "GO:0048871",
+ "GO:0048869",
+ "UPHENO:0088170",
"CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
"CL:0001035",
- "GO:0042592",
+ "GO:0030218",
+ "UPHENO:0088162",
"HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
- "UPHENO:0080187",
- "HP:0002818",
"UBERON:0015001",
- "UPHENO:0087510",
- "UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
- "HP:0001249",
+ "UPHENO:0080187",
+ "HP:0002650",
"HP:0200005",
- "UPHENO:0075944",
"UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
+ "UPHENO:0069119",
"UPHENO:0046755",
+ "UPHENO:0075198",
"UPHENO:0069562",
- "UBERON:0002405",
+ "HP:0000010",
+ "UPHENO:0002263",
"UPHENO:0002948",
- "UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
- "UPHENO:0052965",
- "UPHENO:0086172",
- "UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
- "UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
- "UPHENO:0078452",
- "UPHENO:0053563",
"UPHENO:0053561",
- "UPHENO:0053571",
+ "CL:0000329",
+ "UPHENO:0053632",
+ "UPHENO:0002940",
+ "UPHENO:0053647",
+ "UPHENO:0053644",
"UPHENO:0053572",
- "UPHENO:0075933",
- "UBERON:0010418",
- "UBERON:0001333",
+ "HP:0000028",
+ "UPHENO:0053559",
"UBERON:0000056",
- "UBERON:0036295",
- "UPHENO:0002806",
- "UBERON:0006555",
"UPHENO:0002636",
- "UPHENO:0076780",
+ "UBERON:0036295",
"HP:0000072",
+ "UBERON:0006555",
+ "UPHENO:0003101",
+ "HP:0025633",
+ "UPHENO:0002859",
"UPHENO:0002426",
- "HP:0011277",
"UPHENO:0002377",
+ "UPHENO:0002427",
+ "UPHENO:0002442",
+ "UPHENO:0002411",
"HP:0012211",
+ "UPHENO:0002422",
+ "HP:0000135",
"UPHENO:0003056",
- "HP:0002719",
+ "UPHENO:0002381",
"UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
- "HP:5201015",
- "HP:0000202",
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],
"has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
"decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
+ "Hypopigmentation of the skin",
"Abnormal platelet morphology",
- "biogenic amine secreting cell",
"Thrombocytopenia",
- "Hypopigmented skin patches",
+ "Abnormal platelet count",
+ "decreased number of platelet",
+ "number of platelet phenotype",
"serotonin secreting cell",
- "decreased number of material anatomical entity in the multicellular organism",
- "decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
- "nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
"Abnormal immune system morphology",
- "number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
- "Abnormal leukocyte morphology",
- "homeostatic process phenotype",
- "metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
- "Short stature",
+ "Abnormal cellular immune system morphology",
+ "decreased number of hematopoietic cell",
+ "leukocyte",
+ "decreased number of anatomical structure in the multicellular organism",
+ "decreased number of leukocyte in the blood",
+ "decreased number of anatomical structure",
+ "Leukopenia",
+ "nucleate cell",
+ "motile cell",
+ "decreased number of anatomical entity in the blood",
+ "Abnormality of chromosome stability",
+ "Abnormal cellular physiology",
"decreased height of the multicellular organism",
- "multicellular organism height phenotype",
"decreased size of the multicellular organism",
- "Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
- "blood cell phenotype",
- "bone cell",
+ "size of multicellular organism phenotype",
+ "cellular developmental process",
+ "decreased number of anatomical entity in the multicellular organism",
+ "blood cell",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "Abnormal bone marrow cell morphology",
+ "Sideroblastic anemia",
+ "homeostatic process",
+ "immune system process",
+ "cellular process",
+ "erythrocyte differentiation",
+ "Abnormal erythroid lineage cell morphology",
+ "cell development",
+ "Abnormal myeloid cell morphology",
"Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
+ "hemopoiesis",
"erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
+ "homeostasis of number of cells",
+ "erythrocyte homeostasis",
+ "bone cell",
+ "aplasia or hypoplasia of radius bone",
"Abnormal morphology of the radius",
- "radius endochondral element",
"radius bone phenotype",
- "Abnormality of skull size",
- "cognition",
- "Scoliosis",
- "Almond-shaped palpebral fissure",
- "size of palpebral fissure phenotype",
+ "radius bone morphology phenotype",
+ "Neurodevelopmental delay",
+ "shape palpebral fissure",
+ "Abnormal shape of the palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "decreased size of the orifice",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
"decreased size of the palpebral fissure",
- "Recurrent infections",
- "immune system phenotype",
- "Recurrent urinary tract infections",
- "Abnormality of the immune system",
+ "decreased length of orifice",
+ "decreased length of anatomical conduit",
"immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
- "absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
- "absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
- "absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
- "male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
- "localised anatomical structure",
+ "Unusual infection",
+ "localised male reproductive organ",
+ "localised organ",
"Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
- "male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
- "urethra phenotype",
- "Abnormality of thrombocytes",
- "urethral opening",
+ "localised anatomical structure",
+ "ureter",
+ "excretory tube phenotype",
"Abnormal ureter morphology",
"Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
+ "Hypopigmented skin patches",
"Abnormality of the urinary system physiology",
+ "cavitated compound organ physiology phenotype",
"abdominal segment element physiology phenotype",
"kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
+ "Abnormal renal physiology",
+ "gonad physiology phenotype",
"decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cleft palate",
"incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
+ "Craniofacial cleft",
"incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
"increased size of the structure with developmental contribution from neural crest",
+ "anatomical entity height phenotype",
+ "increased height of the anatomical structure",
"High palate",
+ "increased height of the material anatomical entity",
"increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
+ "increased height of the anatomical entity",
+ "immune system morphology phenotype",
"increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
+ "increased height of the ectoderm-derived structure",
+ "increased size of the neural crest-derived structure",
+ "increased height of the multi-tissue structure",
+ "number of leukocyte phenotype",
+ "increased length of the ectoderm-derived structure",
+ "increased length of the organ part",
+ "increased length of the epicanthal fold",
"Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
+ "upper eyelid",
"skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
+ "head or neck skin",
+ "skin of face",
"zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
+ "increased size of the zone of organ",
+ "skin of head",
"asymmetry of anatomical entity phenotype",
+ "Abnormal leukocyte count",
"Facial asymmetry",
"asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
+ "Sloping forehead",
"forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
+ "sloped anatomical entity",
"lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
+ "dermal bone phenotype",
+ "increased height of the structure with developmental contribution from neural crest",
+ "intramembranous bone phenotype",
+ "bone element hypoplasia in face",
+ "secretory cell",
+ "bone of lower jaw phenotype",
+ "mandible morphology phenotype",
+ "mandible",
"dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
+ "facial bone hypoplasia",
+ "bone of lower jaw",
"anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
+ "skin of eyelid",
"Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
+ "mandible hypoplasia",
+ "sensory perception of sound",
"decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
+ "sloped forehead",
"sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "Hearing abnormality",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased system process",
+ "Hearing impairment",
+ "nose phenotype",
+ "naris",
+ "olfactory organ",
+ "compound organ physiology phenotype",
"posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
"naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
+ "posterior nasal aperture",
"Abnormal conjugate eye movement",
"Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
"visual perception",
- "Abnormality of vision",
+ "sensory perception of light stimulus",
"decreased qualitatively system process",
- "visual perception phenotype",
"decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
+ "sensory perception phenotype",
+ "decreased qualitatively nervous system process",
+ "Abnormality of globe size",
+ "sensory perception of light stimulus phenotype",
"size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
+ "decreased size of the ectoderm-derived structure",
+ "internal ear physiology phenotype",
"eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
+ "vestibulo-ocular reflex phenotype",
"Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
+ "Abnormality of eye movement",
+ "multi organ part structure physiology phenotype",
+ "Abnormal vestibular function",
+ "Aplasia/Hypoplasia of facial bones",
"bicornuate uterus",
- "female reproductive organ",
+ "female organism",
+ "internal female genitalia morphology phenotype",
+ "decreased functionality of the organ",
+ "oviduct",
"uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
+ "bicornuate anatomical entity",
+ "shape uterus",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the uterus",
+ "subdivision of oviduct phenotype",
+ "internal female genitalia",
+ "Abnormal finger phalanx morphology",
+ "Triphalangeal thumb",
+ "manual digitopodium bone",
+ "digit 1",
"manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
+ "decreased sensory perception",
"manual digit bone",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
"manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
+ "ureter morphology phenotype",
+ "skeleton of manual acropodium",
+ "skeleton of manual digitopodium",
+ "Abnormality of the immune system",
+ "manual digit phalanx endochondral element",
+ "facial bone phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "manus bone",
+ "excretory tube",
+ "manual digit 1 phalanx endochondral element",
"phalanx of manus",
"manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
"neuromuscular process",
+ "kinesthetic behavior",
"voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
+ "voluntary movement behavior phenotype",
+ "system process phenotype",
+ "reflex phenotype",
+ "increased response to stimulus",
+ "Recurrent urinary tract infections",
+ "involuntary movement behavior",
"response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
+ "reflex",
+ "increased qualitatively response to stimulus",
+ "Global developmental delay",
+ "reflexive behavior",
+ "behavior phenotype",
+ "Hyperreflexia",
+ "multicellular organismal movement phenotype",
"decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
+ "decreased qualitatively multicellular organismal process",
"anatomical structure development phenotype",
- "decreased qualitatively biological_process",
+ "multicellular organismal process phenotype",
"Growth delay",
- "Intrauterine growth retardation",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
+ "delayed growth",
+ "embryo development rate phenotype",
+ "embryo development phenotype",
+ "Abnormality of vision",
+ "anatomical wall phenotype",
+ "Hernia",
"Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
+ "digit 1 digitopodial skeleton",
+ "tissue phenotype",
"herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
+ "connective tissue",
+ "erythrocyte morphology phenotype",
+ "umbilicus",
+ "abdominal wall phenotype",
"herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
+ "facial skeleton",
+ "abdominal viscera",
+ "incomplete closing of the organ part",
+ "embryo phenotype",
"organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
+ "Renal insufficiency",
"late embryo",
- "bone of jaw phenotype",
+ "Abnormality of prenatal development or birth",
+ "uterus phenotype",
"Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
+ "response to external stimulus",
+ "Abnormality of the amniotic fluid",
+ "embryonic development/birth phenotype",
"cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
+ "metabolic process",
+ "Abnormal cardiac septum morphology",
+ "interatrial septum",
"Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
+ "cardiac septum",
"increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
+ "incomplete closing of the interventricular septum",
+ "Abnormality of thumb phalanx",
"increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
+ "cardiac septum morphology phenotype",
+ "right cardiac chamber phenotype",
+ "cardiac septum phenotype",
+ "increased size of the lateral structure",
"size of cardiac ventricle phenotype",
+ "interventricular septum morphology phenotype",
+ "heart right ventricle morphology phenotype",
+ "cardiac ventricle phenotype",
"septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
+ "incomplete closing of the cardiac septum",
+ "cardiac chamber morphology in the heart phenotype",
+ "hypertrophic cardiac ventricle",
+ "cardiac chamber phenotype",
+ "septum",
+ "increased size of the cardiac chamber",
+ "incomplete closing of the septum",
+ "Intrauterine growth retardation",
"decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
"mesoderm-derived structure physiology phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "decreased nervous system process",
+ "decreased functionality of the organ component layer",
+ "Abnormality of the abdominal wall",
+ "organ component layer physiology phenotype",
+ "heart layer phenotype",
"layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
+ "Abnormal choanae morphology",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "Hypertrophic cardiomyopathy",
+ "Abnormal myocardium morphology",
+ "decreased multicellular organism development",
+ "heart layer",
+ "decreased functionality of the anatomical entity",
+ "decreased multicellular organismal process",
+ "incomplete closing of the trunk blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "systemic artery phenotype",
+ "blood vessel phenotype",
+ "nervous system process phenotype",
+ "incomplete closing of the coronary vessel",
+ "coronary vessel morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
"incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "aplasia or hypoplasia of mandible",
+ "trunk blood vessel",
"trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
"vasculature of organ",
"vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
"heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "sensory perception of sound phenotype",
+ "response to stimulus",
+ "ductus arteriosus",
+ "incomplete closing of the artery",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "myeloid cell",
+ "incomplete closing of the blood vessel",
+ "anatomical entity morphology in the heart phenotype",
+ "Patent ductus arteriosus",
+ "anatomical structure morphology in the heart phenotype",
+ "hematopoietic cell",
"semi-lunar valve",
- "outflow tract of ventricle",
+ "neuromuscular process phenotype",
+ "heart",
+ "aortic valve morphology phenotype",
+ "platelet phenotype",
+ "Abnormal heart morphology",
+ "Abnormal heart valve morphology",
"semi-lunar valve morphology phenotype",
"heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
+ "internal ear",
+ "heart left ventricle",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "outflow part of left ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "cardiac valve",
+ "bone of jaw",
"aortic system",
- "aorta phenotype",
- "mandible",
+ "aortic valve",
+ "thoracic cavity blood vessel",
+ "great vessel of heart",
+ "Abnormal aortic morphology",
"aorta morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "great vessel of heart morphology phenotype",
"aorta",
- "great vessel of heart",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "longitudinal arch of pes",
+ "Pes planus",
"flat anatomical entity",
+ "flattened anatomical entity",
"shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
+ "trunk region element physiology phenotype",
+ "Toe syndactyly",
"fused anatomical entity and pedal digit",
+ "incomplete closing of the anatomical wall",
+ "pedal digit phenotype",
"anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
+ "platelet",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
"growth",
- "anatomical entity mass phenotype",
+ "radius bone",
+ "growth phenotype",
"Weight loss",
- "developmental process rate phenotype",
+ "obsolete cell",
+ "material anatomical entity mass phenotype",
+ "Decreased body weight",
"Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "anatomical structure mass phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal calvaria morphology",
+ "frontal cortex morphology phenotype",
+ "neurocranium morphology phenotype",
+ "olfactory system morphology phenotype",
+ "cranium morphology phenotype",
+ "Puberty and gonadal disorders",
+ "central nervous system cell part cluster",
+ "hypertrophic multicellular anatomical structure",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "shape of frontal cortex phenotype",
+ "primary subdivision of skull",
+ "cranium",
+ "frontal cortex",
+ "gray matter",
+ "dermal bone",
+ "aplasia or hypoplasia of skull",
+ "frontal lobe",
+ "pallium",
+ "prominent forehead",
+ "brain gray matter phenotype",
+ "forehead",
+ "tetrapod frontal bone",
"neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
+ "gray matter of forebrain phenotype",
+ "decreased number of cell",
+ "gray matter phenotype",
+ "cortex of cerebral lobe",
+ "primary subdivision of cranial skeletal system",
+ "vault of skull",
+ "cardiovascular system physiology phenotype",
+ "prominent anatomical entity",
+ "neurocranium",
+ "bone of craniocervical region",
+ "cranial bone",
+ "intramembranous bone",
+ "membrane bone",
"heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
+ "gray matter of forebrain",
"anus",
- "membrane bone",
- "zeugopodial skeleton",
+ "closing of the multicellular anatomical structure",
+ "material anatomical entity atresia",
+ "jaw skeleton morphology phenotype",
+ "multicellular anatomical structure atresia",
+ "closing of the anatomical structure",
+ "anus morphology phenotype",
+ "bone marrow",
+ "anus atresia",
+ "anus phenotype",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "Abnormal ileum morphology",
+ "parasympathetic nervous system",
+ "large intestine morphology phenotype",
+ "autonomic nervous system",
+ "Abnormal peripheral nervous system ganglion morphology",
+ "Abnormal autonomic nervous system morphology",
+ "ganglion of peripheral nervous system",
+ "Abnormal large intestine morphology",
+ "interatrial septum morphology phenotype",
+ "Abnormality of the autonomic nervous system",
+ "haemolymphatic fluid",
+ "ganglion morphology phenotype",
+ "enteric nervous system",
+ "Aganglionic megacolon",
+ "enteric ganglion",
+ "Megacolon",
+ "lower digestive tract",
+ "Abnormal ganglion morphology",
+ "stylopod",
+ "late embryo phenotype",
+ "valve",
+ "Abnormal femur morphology",
+ "decreased qualitatively pigmentation",
+ "increased length of the head or neck skin",
"innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
+ "hip joint morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "protruding anatomical entity",
+ "Abnormal pelvic girdle bone morphology",
+ "pelvic region of trunk",
"hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
+ "appendage girdle region",
+ "girdle skeleton",
+ "trunk bone",
+ "Lower extremity joint dislocation",
+ "Abnormal hip bone morphology",
+ "skeletal joint morphology phenotype",
+ "heart layer morphology phenotype",
+ "hip dislocation",
+ "skeletal joint phenotype",
+ "synovial joint morphology phenotype",
+ "girdle bone/zone",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "Hip dislocation",
+ "outflow part of left ventricle morphology phenotype",
+ "vertebral column",
+ "tube closure phenotype",
+ "ileum",
+ "embryonic tissue",
+ "forehead phenotype",
+ "neural tube closure",
+ "dermatocranium",
+ "Abnormal axial skeleton morphology",
+ "Vertebral arch anomaly",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "decreased pigmentation in multicellular organism",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
"anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
+ "Abnormal ear physiology",
"ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
+ "Abnormality of the vasculature",
+ "incomplete closing of the anatomical entity",
+ "postcranial axial skeleton",
+ "localised multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis",
+ "tube formation",
"eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "tissue morphogenesis",
+ "incomplete closing of the vessel",
+ "presumptive structure",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "entire sense organ system",
+ "formed organ part",
+ "bony vertebral centrum",
+ "cranial neuron projection bundle",
+ "Clubbing",
+ "head bone",
+ "shape digit",
+ "peripheral nervous system morphology phenotype",
+ "Abnormal spinal cord morphology",
+ "nerve phenotype",
+ "developmental process",
+ "increased size of the heart right ventricle",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "abdominal segment bone",
+ "Cranial nerve paralysis",
+ "increased number of multicellular anatomical structure",
+ "Spinal dysraphism",
+ "Frontal bossing",
+ "nerve",
+ "esophagus morphology phenotype",
+ "cranial nerve",
+ "internal naris atresia",
+ "musculature of body",
+ "nerve of head region",
+ "phenotype",
+ "anatomical space",
+ "pelvic appendage",
+ "body part movement",
+ "cranial nerve phenotype",
+ "artery phenotype",
+ "autopodial extension",
+ "Abnormal cranial nerve physiology",
+ "appendage girdle complex",
"Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
+ "reproductive process",
+ "kidney phenotype",
+ "limb morphology phenotype",
+ "cognition",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
"nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
+ "decreased functionality of the myocardium",
+ "limb bone phenotype",
+ "face",
+ "multicellular anatomical structure mass phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "bone of pectoral complex morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "vertebral column phenotype",
+ "Hernia of the abdominal wall",
+ "autopodial extension phenotype",
+ "Abnormal forearm bone morphology",
+ "forelimb zeugopod morphology phenotype",
+ "limb skeleton subdivision",
+ "femur",
+ "skull",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "vault of skull phenotype",
+ "epithelium development",
+ "Atypical behavior",
+ "Abnormal upper limb bone morphology",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Abnormal peripheral nervous system morphology",
+ "arm bone phenotype",
+ "olfactory organ phenotype",
+ "multi-limb segment region phenotype",
+ "Nystagmus",
+ "esophagus",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "endochondral element phenotype",
+ "forelimb bone phenotype",
+ "bone element",
+ "decreased reproductive process",
"skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
+ "zeugopod",
+ "system development",
+ "pectoral appendage",
+ "deviation of manual digit 5 towards the middle",
+ "bony vertebral centrum morphology phenotype",
+ "Abnormality of the upper limb",
+ "reproductive system morphology phenotype",
+ "olfactory system",
+ "Neoplasm by anatomical site",
+ "limb",
+ "increased size of the material anatomical entity",
+ "respiratory system",
"hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
+ "Small intestinal stenosis",
+ "flat longitudinal arch of pes",
+ "neuron projection bundle phenotype",
+ "Abnormal morphology of ulna",
+ "multicellular organismal reproductive process",
+ "Abnormality of the musculoskeletal system",
+ "Microcephaly",
+ "pectoral appendage skeleton",
+ "alimentary part of gastrointestinal system phenotype",
+ "ulna endochondral element",
+ "localised gonad",
+ "paired limb/fin",
+ "incomplete closing of the skeletal element",
+ "absent sperm",
+ "subdivision of skeleton",
+ "shape of forehead phenotype",
"endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
+ "decreased number of anatomical entity",
+ "Abnormal forebrain morphology",
+ "Abnormal forearm morphology",
"vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "vertebral element",
+ "pelvic region element phenotype",
+ "viscus",
+ "reproductive organ phenotype",
+ "decreased size of the skeletal element",
+ "bone of free limb or fin",
+ "arch of centrum of vertebra phenotype",
+ "limb endochondral element",
+ "neural tube formation",
+ "neuron projection bundle",
+ "digestive system gland phenotype",
+ "increased length of the skin of eyelid",
"internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
+ "Abnormal appendicular skeleton morphology",
"paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
"Abnormal internal genitalia",
+ "localised testis",
+ "decreased qualitatively sensory perception of light stimulus",
+ "forelimb morphology phenotype",
+ "Myelodysplasia",
+ "Abnormal blood vessel morphology",
+ "parasympathetic ganglion",
+ "formed ectoderm-derived structure",
+ "decreased size of the arm bone",
+ "cardiovascular system phenotype",
+ "anatomical cluster phenotype",
+ "blood",
+ "Abnormal morphology of female internal genitalia",
+ "anatomical cluster",
+ "Functional abnormality of male internal genitalia",
+ "acropodium region",
+ "coronary vessel",
+ "cranial nerve physiology phenotype",
+ "ventricle of nervous system",
+ "paralysed anatomical entity",
+ "multi-limb segment region",
+ "blood vessel",
+ "compound organ",
+ "eye",
+ "venous system",
+ "outflow tract",
+ "germ cell",
+ "Abnormal long bone morphology",
+ "vasculature",
+ "upper urinary tract phenotype",
+ "Abnormal jaw morphology",
+ "Meckel diverticulum",
+ "irregular bone",
+ "organism",
+ "secondary palate",
+ "male reproductive organ morphology phenotype",
"skeleton of digitopodium",
- "anatomical entity atresia",
+ "myeloid cell homeostasis",
+ "glans penis",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "Abnormal preputium morphology",
+ "penis morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "mouth phenotype",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
+ "cornea morphology phenotype",
+ "leg bone",
+ "Abnormal skin morphology",
+ "multi-tissue structure phenotype",
+ "opaque anatomical entity",
+ "decreased anatomical structure mass",
+ "forelimb zeugopod bone phenotype",
+ "pigmentation",
+ "developing anatomical structure",
+ "skeleton of limb",
+ "Abnormality of skin pigmentation",
+ "female reproductive system",
+ "dermal skeleton",
+ "phenotypic effect",
+ "aplasia or hypoplasia of iris",
+ "pigmentation phenotype",
+ "heart left ventricle morphology phenotype",
"individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
+ "Umbilical hernia",
+ "Arteriovenous malformation",
+ "increased size of the multi-tissue structure",
+ "head bone morphology phenotype",
+ "Abnormal eye morphology",
+ "incomplete closing of the secondary palate",
+ "increased length of the material anatomical entity",
+ "subdivision of skeletal system phenotype",
+ "integument",
+ "Abnormal connection of the cardiac segments",
+ "leg phenotype",
+ "cardiac atrium",
+ "Abnormality of the integument",
+ "genitourinary system phenotype",
+ "Abnormality of the forehead",
"mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
+ "multicellular organismal process",
+ "bone of pelvic complex",
+ "system process",
+ "sensory perception",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "process",
+ "Abnormal shape of the frontal region",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "autopod endochondral element",
"shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
+ "mandible phenotype",
+ "autonomic ganglion",
+ "axial skeletal system",
+ "brain",
+ "ventricular system of central nervous system",
+ "neural crest-derived structure, curved phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "musculature phenotype",
+ "reproductive system physiology phenotype",
+ "myeloid cell differentiation",
+ "increased number of organ part",
+ "decreased biological_process in skin of body",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "eyeball of camera-type eye",
+ "decreased length of forelimb zeugopod bone",
+ "digit 1 plus metapodial segment",
+ "Abnormality of the anus",
+ "cerebrospinal fluid morphology phenotype",
+ "synovial joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "facial bone",
+ "increased number of brain ventricle",
+ "Recurrent infections",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "size of heart right ventricle phenotype",
+ "Abnormality of the urinary system",
+ "incomplete closing of the neural crest-derived structure",
+ "Abnormal cerebrospinal fluid morphology",
+ "external soft tissue zone",
+ "Abnormal mandible morphology",
+ "skeletal system phenotype",
+ "male gamete generation phenotype",
"digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
+ "head",
+ "internal genitalia phenotype",
"bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
+ "Abnormal esophagus morphology",
+ "increased number of anatomical structure in the cerebrospinal fluid",
"organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
+ "multicellular organismal-level homeostasis",
"chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
+ "anterior segment of eyeball",
+ "Abnormal morphology of the great vessels",
+ "pectoral complex",
+ "Abnormality of the peripheral nervous system",
+ "trunk region element",
+ "endoderm-derived structure",
+ "lateral structure",
"Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
+ "digestive system element",
+ "Abnormal digestive system morphology",
+ "Tracheoesophageal fistula",
+ "spinal cord morphology phenotype",
+ "Abnormal cardiac atrium morphology",
+ "Neoplasm",
+ "Abnormal intestine morphology",
+ "nervous system process",
+ "limb bone morphology phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "Abnormal gastrointestinal tract morphology",
+ "embryonic morphogenesis",
+ "phalanx of pes morphology phenotype",
+ "body proper",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "tunica fibrosa of eyeball",
+ "anatomical structure physiology phenotype",
+ "mesoderm-derived structure phenotype",
+ "appendage",
+ "Abnormal facial shape",
+ "location of anatomical entity phenotype",
+ "tube morphogenesis",
+ "camera-type eye morphology phenotype",
+ "brain gray matter",
+ "embryo development",
+ "Abnormal tracheobronchial morphology",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "size of brain ventricle phenotype",
+ "limb phenotype",
+ "Abnormal anterior eye segment morphology",
+ "organ subunit",
+ "absent sperm in the semen",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "connective tissue phenotype",
"increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
+ "digestive tract",
+ "face morphology phenotype",
+ "Abnormal external genitalia",
+ "arm phenotype",
+ "digestive system phenotype",
+ "Abnormal respiratory system physiology",
+ "reproductive structure physiology phenotype",
+ "Short stature",
+ "Abnormality of the vertebral column",
+ "reproductive organ physiology phenotype",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "male reproductive organ",
+ "sensory perception of mechanical stimulus phenotype",
+ "internal naris phenotype",
+ "disconnected anatomical group",
+ "cerebral cortex",
+ "tracheobronchial tree",
+ "decreased size of the forelimb bone",
+ "tube development",
+ "multicellular anatomical structure phenotype",
+ "Abnormal toe morphology",
+ "Anemia",
+ "morphological feature",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "Abnormality of the urethra",
+ "immaterial entity",
+ "Abnormal systemic arterial morphology",
+ "renal system",
"peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
+ "Abnormal anterior chamber morphology",
+ "zeugopodial skeleton",
+ "head morphology phenotype",
+ "forelimb skeleton",
+ "immune system",
+ "endocrine system",
+ "sense organ physiology phenotype",
+ "ear physiology phenotype",
+ "uterus morphology phenotype",
+ "Abnormal neural tube morphology",
+ "Abnormal enteric ganglion morphology",
+ "excretory system",
+ "craniocervical region morphology phenotype",
+ "tube",
+ "increased number of ventricle of nervous system",
+ "male reproductive system",
+ "forelimb endochondral element",
+ "physiologic nystagmus",
+ "hemolymphoid system",
+ "organ subunit phenotype",
+ "respiratory tract",
+ "amniotic fluid phenotype",
+ "respiratory tube",
+ "glans",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "developmental process phenotype",
+ "limb endochondral element phenotype",
+ "blood vasculature",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "increased reflex",
+ "long bone",
+ "material entity",
"cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
+ "number of sperm phenotype",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Slanting of the palpebral fissure",
+ "decreased length of limb bone",
+ "structure with developmental contribution from neural crest",
+ "intromittent organ phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "pelvic girdle bone/zone morphology phenotype",
+ "Neural tube defect",
+ "prepuce",
+ "decreased male gamete generation",
+ "organ system subdivision",
"Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
+ "skeletal system morphology phenotype",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "Abnormal peripheral nerve morphology by anatomical site",
+ "independent continuant",
+ "anatomical line between pupils",
+ "reproductive system",
+ "thoracic cavity element",
+ "skeleton",
+ "multicellular organism",
+ "Abnormality of the orbital region",
"decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
+ "roof of mouth",
+ "neural tube development",
+ "external genitalia",
+ "camera-type eye",
+ "decreased number of myeloid cell",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "forelimb zeugopod bone",
"head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
+ "vascular system morphology phenotype",
+ "Abnormal digit morphology",
+ "penis phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "Abnormal form of the vertebral bodies",
+ "upper urinary tract",
+ "right cardiac chamber",
+ "manual digitopodium region",
+ "gray matter of telencephalon",
+ "urethral meatus",
+ "dorsal region element",
+ "Abnormality of the cardiovascular system",
+ "central nervous system gray matter layer",
+ "pedal digit bone",
+ "increased length of the non-material anatomical boundary",
+ "chamber of eyeball",
+ "Clinodactyly",
+ "palatine uvula",
+ "reproductive structure phenotype",
+ "quality",
"central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
+ "anatomical collection phenotype",
+ "Abnormal toe phalanx morphology",
"arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "increased length of the skin of face",
+ "decreased size of the limb bone",
+ "central nervous system morphology phenotype",
+ "shape of external ear phenotype",
+ "anatomical conduit phenotype",
+ "skeleton of lower jaw",
+ "common carotid artery plus branches morphology phenotype",
+ "eyelid",
"endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
+ "Abnormality of the ear",
+ "decreased qualitatively developmental process involved in reproduction",
+ "Abnormal male urethral meatus morphology",
+ "reproductive structure",
+ "epithelial tube",
+ "decreased height of the anatomical entity",
+ "decreased developmental process involved in reproduction",
+ "Abnormality of the eye",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "anatomical system",
"upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
+ "sense organ phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "Abnormality of reproductive system physiology",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "pedal digit phalanx endochondral element",
+ "organ",
+ "pedal digit plus metapodial segment",
+ "Phenotypic abnormality",
+ "multicellular anatomical structure physiology phenotype",
+ "increased number of organ component layer",
+ "nervous system",
+ "anatomical projection phenotype",
+ "anatomical system physiology phenotype",
+ "Displacement of the urethral meatus",
+ "organ part physiology phenotype",
+ "skin of body morphology phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "brain ventricle phenotype",
+ "material anatomical entity",
+ "Abnormality of immune system physiology",
+ "localised anatomical entity",
+ "organ system subdivision phenotype",
"simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
+ "homeostatic process phenotype",
+ "behavior",
+ "abdomen element",
+ "protruding eyeball of camera-type eye",
+ "embryonic epithelial tube formation",
+ "respiratory airway",
+ "subdivision of trunk",
+ "multicellular organismal movement",
+ "fused anatomical entity and anatomical entity",
"neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
+ "male urethra",
+ "organ part",
+ "Decreased bone element mass density",
+ "material anatomical entity phenotype",
+ "Short palpebral fissure",
+ "umbilicus morphology phenotype",
+ "Abnormal skeletal morphology",
+ "increased pigmentation",
+ "Abnormality of the genital system",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "Abnormal ventriculoarterial connection",
"alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
+ "shape of continuant phenotype",
+ "deviation of digit towards the middle",
+ "lower urinary tract",
"Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
+ "jaw region",
+ "artery",
+ "telencephalon phenotype",
+ "curved anatomical entity",
+ "anatomical entity morphology phenotype",
+ "decreased length of long bone",
+ "subdivision of organism along appendicular axis",
+ "decreased length of endochondral element",
+ "Abnormal cell morphology",
+ "Abnormal palate morphology",
+ "articulation",
+ "cornea, curved phenotype",
+ "mesoderm-derived structure",
+ "autopod bone",
+ "system",
+ "anatomical structure, curved phenotype",
+ "brain morphology phenotype",
+ "subdivision of head",
+ "increased number of ectoderm-derived structure",
+ "musculoskeletal movement phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "transparent eye structure",
+ "dentary",
+ "behavior process phenotype",
+ "femur endochondral element",
+ "organ component layer phenotype",
+ "subdivision of tube",
+ "Abnormality of the inner ear",
+ "vertebra morphology phenotype",
+ "Decreased fertility in males",
+ "taxon specific phenotype",
+ "anatomical structure",
+ "subdivision of oviduct",
+ "limb bone",
+ "subdivision of digestive tract phenotype",
+ "cerebral cortex morphology phenotype",
+ "urethra phenotype",
+ "Abnormality of the lower urinary tract",
+ "Hypogonadism",
+ "urethral opening",
+ "arm bone",
+ "skeleton of pectoral complex",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "increased size of the zone of skin",
+ "cornea phenotype",
+ "formed chamber of eyeball",
+ "Decreased head circumference",
+ "anatomical entity",
+ "localised material anatomical entity",
+ "ear phenotype",
+ "musculoskeletal movement",
+ "decreased qualitatively biological_process",
+ "increased volume of anatomical entity",
+ "forelimb bone",
+ "Abnormal uvula morphology",
+ "endochondral element",
+ "anatomical entity hypoplasia",
+ "Intellectual disability",
+ "embryonic structure",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "proximo-distal subdivision of respiratory tract",
+ "Abnormal penis morphology",
+ "appendage phenotype",
+ "Hypoplastic facial bones",
+ "organism subdivision phenotype",
+ "arm",
+ "forelimb zeugopod skeleton",
+ "male reproductive organ phenotype",
+ "ocular surface region",
+ "thoracic segment of trunk",
+ "bone of jaw phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
"tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
"pes bone",
+ "renal pelvis/ureter",
+ "male urethral meatus",
+ "primary neural tube formation",
+ "Abnormality of the respiratory system",
+ "segment of autopod",
+ "ductus arteriosus morphology phenotype",
+ "increased pigmentation in skin of body",
+ "cranial neuron projection bundle phenotype",
+ "Abnormal male reproductive system physiology",
+ "reproductive organ",
+ "Abnormality of the digestive system",
+ "anatomical structure development",
+ "arterial blood vessel",
+ "decreased spermatogenesis",
+ "limb segment",
+ "external genitalia phenotype",
+ "nervous system cell part layer",
+ "aplasia or hypoplasia of uvea",
+ "size of palpebral fissure phenotype",
+ "vestibulo-ocular reflex",
"neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
+ "Abnormality of refraction",
+ "digit 5",
+ "Abnormal curvature of the vertebral column",
+ "multi cell part structure phenotype",
+ "ureter phenotype",
+ "hematopoietic system",
+ "multicellular anatomical structure",
+ "reproductive system phenotype",
+ "hindlimb endochondral element",
+ "ventricular system of brain",
+ "innominate bone morphology phenotype",
+ "eye phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal vertebral morphology",
+ "Abnormal male external genitalia morphology",
+ "localised reproductive organ",
+ "glandular system",
+ "myocardium",
+ "external ear",
+ "decreased length of bone of appendage girdle complex",
+ "bone of appendage girdle complex",
+ "anatomical wall",
+ "closing of the material anatomical entity",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "sensory system",
+ "Scoliosis",
+ "multicellular anatomical structure, curved phenotype",
+ "Almond-shaped palpebral fissure",
+ "response to stimulus phenotype",
+ "Abdominal wall defect",
"material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere"
- ],
- "has_phenotype_count": 106,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:1011503",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, dog",
- "full_name": null,
- "deprecated": null,
- "description": "Fanconi syndrome that occurs in dog.",
- "xref": ["OMIA:000366-9615"],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": null,
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": 0,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0007600",
- "category": "biolink:Disease",
- "name": "primary Fanconi syndrome",
- "full_name": null,
- "deprecated": null,
- "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.",
- "xref": [
- "GARD:9118",
- "MEDGEN:341765",
- "NCIT:C123229",
- "Orphanet:3337",
- "UMLS:C1857395"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "FRTS1",
- "Fanconi renotubular syndrome 1",
- "primary Fanconi renotubular syndrome"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0002206",
- "HP:0001943",
- "HP:0003774",
- "HP:0002150",
- "HP:0001944",
- "HP:0012622",
- "HP:0012606",
- "HP:0004912",
- "HP:0003537",
- "HP:0003234",
- "HP:0003081",
- "HP:0002900",
- "HP:0002749",
- "HP:0002659",
- "HP:0002653",
- "HP:0002148",
- "HP:0001824",
- "HP:0001324",
- "HP:0032943",
- "HP:0004918",
- "HP:0004910",
- "HP:0003646",
- "HP:0003149",
- "HP:0003126",
- "HP:0003076",
- "HP:0002909",
- "HP:0002049",
- "HP:0001510",
- "HP:0000117"
- ],
- "has_phenotype_label": [
- "Pulmonary fibrosis",
- "Hypoglycemia",
- "Stage 5 chronic kidney disease",
- "Hypercalciuria",
- "Dehydration",
- "Chronic kidney disease",
- "Renal sodium wasting",
- "Hypophosphatemic rickets",
- "Hypouricemia",
- "Decreased circulating carnitine concentration",
- "Increased urinary potassium",
- "Hypokalemia",
- "Osteomalacia",
- "Increased susceptibility to fractures",
- "Bone pain",
- "Hypophosphatemia",
- "Weight loss",
- "Muscle weakness",
- "Abnormal urine pH",
- "Hyperchloremic metabolic acidosis",
- "Bicarbonate-wasting renal tubular acidosis",
- "Bicarbonaturia",
- "Hyperuricosuria",
- "Low-molecular-weight proteinuria",
- "Glycosuria",
- "Generalized aminoaciduria",
- "Proximal renal tubular acidosis",
- "Growth delay",
- "Renal phosphate wasting"
- ],
- "has_phenotype_closure": [
- "HP:0000117",
- "UPHENO:0000541",
- "UPHENO:0051739",
- "HP:0040156",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "HP:0012072",
- "UPHENO:0046286",
- "CHEBI:33839",
- "HP:0020129",
- "CHEBI:15841",
- "HP:0000093",
- "HP:0003126",
- "HP:0001992",
- "CHEBI:33256",
- "CHEBI:37622",
- "UPHENO:0051608",
- "UPHENO:0068024",
- "UPHENO:0051714",
- "CHEBI:17544",
- "UPHENO:0051619",
- "CHEBI:35604",
- "UPHENO:0024906",
- "CHEBI:16541",
- "UPHENO:0004791",
- "UPHENO:0003430",
- "UBERON:0000479",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066964",
- "UBERON:0009773",
- "UBERON:0007684",
- "UPHENO:0066927",
- "UPHENO:0066913",
- "UPHENO:0002564",
- "UPHENO:0066951",
- "UBERON:0006555",
- "UPHENO:0003381",
- "UPHENO:0005201",
- "UBERON:0004819",
- "UPHENO:0066946",
- "HP:0004910",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0000483",
- "UPHENO:0003941",
- "HP:0004360",
- "HP:0001942",
- "HP:0001941",
- "UPHENO:0003047",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0001824",
- "UPHENO:0010799",
- "HP:0001995",
- "UPHENO:0010795",
- "GO:0040007",
- "UPHENO:0054315",
- "HP:0002653",
- "CHEBI:36914",
- "CHEBI:36915",
- "HP:0010930",
- "HP:0002900",
- "UPHENO:0089756",
- "UPHENO:0068296",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0003081",
- "CHEBI:33674",
- "CHEBI:22563",
- "UPHENO:0005285",
- "GO:0043227",
- "UPHENO:0089739",
- "UPHENO:0084541",
- "HP:0010966",
- "HP:0002909",
- "CHEBI:36586",
- "CHEBI:18059",
- "UPHENO:0082794",
- "CHEBI:64709",
- "HP:0003287",
- "CHEBI:17126",
- "GO:0005737",
- "GO:0043226",
- "HP:0003234",
- "UPHENO:0034319",
- "UPHENO:0084537",
- "CHEBI:33608",
- "CHEBI:25696",
- "CHEBI:24651",
- "CHEBI:33273",
- "CHEBI:25741",
- "HP:0011279",
- "GO:0043231",
- "UPHENO:0051979",
- "CHEBI:24835",
- "GO:0110165",
- "CHEBI:35284",
- "UPHENO:0046337",
- "UPHENO:0082761",
- "HP:0012531",
- "CHEBI:36587",
- "HP:0012610",
- "CHEBI:51151",
- "CHEBI:35406",
- "GO:0005575",
- "HP:0004359",
- "CHEBI:24833",
- "UPHENO:0051881",
- "CHEBI:26469",
- "HP:0002749",
- "CHEBI:35281",
- "CHEBI:35366",
- "CHEBI:33575",
- "UPHENO:0089745",
- "HP:0002157",
- "UPHENO:0010850",
- "HP:0011843",
- "CHEBI:35605",
- "HP:0004364",
- "UBERON:0001630",
- "HP:0025142",
- "CHEBI:33672",
- "CHEBI:24532",
- "CHEBI:33659",
- "HP:0010932",
- "CHEBI:25810",
- "UPHENO:0068251",
- "UPHENO:0046383",
- "HP:6000531",
- "UPHENO:0051736",
- "CHEBI:72695",
- "CHEBI:35875",
- "UPHENO:0068442",
- "CHEBI:33655",
- "CHEBI:33636",
- "UPHENO:0068064",
- "CHEBI:33832",
- "CHEBI:27171",
- "CHEBI:33833",
- "CHEBI:38101",
- "UPHENO:0010808",
- "UPHENO:0066781",
- "HP:0002049",
- "CHEBI:24867",
- "CHEBI:37577",
- "UPHENO:0002964",
- "CHEBI:33635",
- "HP:0033127",
- "HP:0025354",
- "HP:0003330",
- "UBERON:0001434",
- "HP:0011849",
- "HP:0004912",
- "UPHENO:0004459",
- "UPHENO:0050433",
- "UPHENO:0002554",
- "UPHENO:0066921",
- "CHEBI:33304",
- "UPHENO:0066739",
- "CHEBI:33582",
- "HP:0001510",
- "UBERON:0002390",
- "UPHENO:0081440",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "BFO:0000040",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002210",
- "UPHENO:0002783",
- "UPHENO:0002530",
- "CHEBI:27226",
- "HP:0000118",
- "CHEBI:18282",
- "UBERON:0000061",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0005177",
- "CHEBI:26082",
- "UBERON:0000062",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0088582",
- "CHEBI:36358",
- "HP:0011280",
- "UPHENO:0002269",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "UBERON:0000916",
- "UPHENO:0004536",
- "UPHENO:0089764",
- "UBERON:0004122",
- "GO:0042592",
- "CHEBI:27369",
- "UPHENO:0002679",
- "HP:0004918",
- "UPHENO:0049874",
- "UPHENO:0002734",
- "UBERON:0000468",
- "UPHENO:0002816",
- "UPHENO:0068565",
- "CHEBI:25699",
- "CHEBI:33241",
- "UPHENO:0002385",
- "GO:0008152",
- "UPHENO:0082544",
- "CHEBI:22860",
- "UPHENO:0002427",
- "GO:0050878",
- "UPHENO:0084542",
- "CL:0000000",
- "HP:0002748",
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- ],
- "has_phenotype_closure_label": [
- "Abnormal urine phosphate concentration",
- "Renal phosphate wasting",
- "delayed biological_process",
- "Growth delay",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "increased level of carboxylic acid in urine",
- "Glycosuria",
- "increased level of monosaccharide in urine",
- "primary amide",
- "organic amino compound",
- "Proximal renal tubular acidosis",
- "polypeptide",
- "Hyperuricosuria",
- "macromolecule",
- "increased level of purines",
- "Abnormal urinary organic compound level",
- "urine organic anion level phenotype",
- "hydrogencarbonate level phenotype",
- "decreased functionality of the material anatomical entity",
- "decreased functionality of the anatomical structure",
- "Renal tubular acidosis",
- "epithelial tube phenotype",
- "excretory tube physiology phenotype",
- "tissue phenotype",
- "tube physiology phenotype",
- "Bicarbonate-wasting renal tubular acidosis",
- "anatomical conduit physiology phenotype",
- "decreased functionality of the tissue",
- "renal tubule",
- "decreased functionality of the multicellular anatomical structure",
- "anatomical entity dysfunction in independent continuant",
- "nephron tubule phenotype",
- "Renal tubular dysfunction",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "excretory tube",
- "kidney epithelium",
- "tissue",
- "excretory tube phenotype",
- "epithelium phenotype",
- "decreased functionality of the kidney epithelium",
- "Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Abnormal urine pH",
- "muscle structure",
- "protein polypeptide chain",
- "muscle organ physiology phenotype",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Aciduria",
- "muscle organ phenotype",
- "Muscle weakness",
- "Decreased body weight",
- "material anatomical entity mass phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "Growth abnormality",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "hydrogencarbonate",
- "multicellular anatomical structure mass phenotype",
- "multicellular organism mass phenotype",
- "Pain",
- "Constitutional symptom",
- "musculoskeletal system physiology phenotype",
- "Abnormal musculoskeletal physiology",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "Osteomalacia",
- "cation",
- "blood potassium atom level phenotype",
- "blood cation level phenotype",
- "blood monovalent inorganic cation level phenotype",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "Generalized aminoaciduria",
- "Abnormal blood potassium concentration",
- "monovalent inorganic cation",
- "potassium atom level phenotype",
- "potassium atom",
- "urine glucose level phenotype",
- "Decreased anatomical entity mass",
- "Abnormality of mitochondrial metabolism",
- "polyatomic ion",
- "fatty acid level phenotype",
- "carnitine",
- "amino acid",
- "Abnormal circulating carnitine concentration",
- "Abnormality of the mitochondrion",
- "cell phenotype",
- "carbonyl compound",
- "urine phosphate level phenotype",
- "zwitterion",
- "organic acid",
- "blood carboxylic acid level phenotype",
- "epithelium",
- "Abnormal circulating monocarboxylic acid concentration",
- "decreased level of amino-acid betaine",
- "cytoplasm",
- "amino-acid betaine level phenotype",
- "monocarboxylic acid",
- "cellular_component",
- "amino-acid betaine",
- "Abnormal circulating fatty-acid concentration",
- "Abnormal circulating lipid concentration",
- "onium betaine",
- "fatty acid",
- "carboxylic acid",
- "fatty acid anion",
- "hydrogen molecular entity",
- "Abnormal cellular phenotype",
- "organic anion",
- "Abnormal circulating carboxylic acid concentration",
- "polyatomic anion",
- "oxide",
- "intracellular membrane-bounded organelle",
- "obsolete cell",
- "dipolar compound",
- "carboxylic acid anion",
- "Abnormality of body weight",
- "oxoacid",
- "increased level of hydrogencarbonate in urine",
- "carbon oxoacid",
- "oxoanion",
- "cellular anatomical entity",
- "Weight loss",
- "cellular_component phenotype",
- "Bone pain",
- "uric acid",
- "increased level of nitrogen molecular entity in blood",
- "nephron epithelium phenotype",
- "oxopurine",
- "hydroxides",
- "purines",
- "decreased level of purines",
- "heteropolycyclic compound",
- "heterobicyclic compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "nucleobase",
- "imidazopyrimidine",
- "Low-molecular-weight proteinuria",
- "intracellular anatomical structure",
- "organonitrogen heterocyclic compound",
- "urine hydrogencarbonate level phenotype",
- "decreased muscle organ strength",
- "organic heterobicyclic compound",
- "cyclic compound",
- "decreased functionality of the epithelium",
- "Decreased multicellular organism mass",
- "organic molecule",
- "Hyperchloremic metabolic acidosis",
- "quaternary nitrogen compound",
- "polycyclic compound",
- "aromatic compound",
- "decreased anatomical structure mass",
- "heterocyclic compound",
- "nitrogen molecular entity",
- "musculature",
- "musculature of body",
- "decreased level of phosphate in blood",
- "Abnormal urine carboxylic acid level",
- "blood carnitine level phenotype",
- "Reduced bone mineral density",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "bone element mass density phenotype",
- "musculoskeletal system phenotype",
- "monoatomic ion",
- "monoatomic entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "Abnormality of bone mineral density",
- "Hypouricemia",
- "musculoskeletal system",
- "anatomical entity mass density phenotype",
- "phosphoric acid derivative",
- "Abnormal circulating nucleobase concentration",
- "monosaccharide",
- "haemolymphatic fluid",
- "nephron tubule",
- "blood nucleobase level phenotype",
- "heteroarene",
- "organism substance",
- "occurrent",
- "decreased functionality of the epithelial tube",
- "Abnormal circulating fatty-acid anion concentration",
- "blood oxygen molecular entity level phenotype",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "process",
- "glucose homeostasis phenotype",
- "musculature of body phenotype",
- "Abnormality of blood and blood-forming tissues",
- "epithelium physiology phenotype",
- "abdominal segment of trunk",
- "excreta",
- "chemical entity",
- "molecular entity",
- "lung morphology phenotype",
- "organic ion",
- "kidney physiology phenotype",
- "organic molecular entity",
- "Pulmonary fibrosis",
- "main group molecular entity",
- "blood carbohydrate level phenotype",
- "anatomical collection phenotype",
- "mitochondrion phenotype",
- "blood chemical entity level phenotype",
- "heteroorganic entity",
- "increased level of potassium atom in urine",
- "trunk phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "lateral structure phenotype",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "endoderm-derived structure",
- "inorganic molecular entity",
- "metabolic process",
- "urine potassium atom level phenotype",
- "anatomical system",
- "Abnormal glucose homeostasis",
- "Abnormality of urine calcium concentration",
- "tube",
- "anatomical entity physiology phenotype",
- "carboxamide",
- "compound organ",
- "organic heteropolycyclic compound",
- "trunk region element",
- "quality",
- "Abnormal cellular physiology",
- "subdivision of trunk phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of organism along main body axis",
- "anatomical entity morphology in the respiratory system phenotype",
- "renal tubule phenotype",
- "organ",
- "aldose",
- "epithelial tube physiology phenotype",
- "ion",
- "nephron",
- "cell",
- "material anatomical entity phenotype",
- "decreased level of uric acid in blood",
- "Abnormal circulating organic compound concentration",
- "Abnormal muscle physiology",
- "blood organic molecular entity level phenotype",
- "carbon group molecular entity",
- "regulation of body fluid levels phenotype",
- "Abnormality of the musculoskeletal system",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "Abnormal lung morphology",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "blood monoatomic ion level phenotype",
- "material anatomical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "skeletal system",
- "carbohydrate",
- "blood fatty acid anion level phenotype",
- "subdivision of organism along main body axis phenotype",
- "Hypophosphatemia",
- "tube phenotype",
- "genitourinary system phenotype",
- "increased level of protein polypeptide chain in urine",
- "Increased urinary potassium",
- "Abnormal urine potassium concentration",
- "organic oxo compound",
- "Abnormality of metabolism/homeostasis",
- "organism subdivision phenotype",
- "increased level of chemical entity in blood",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "bicyclic compound",
- "renal system physiology phenotype",
- "Abnormal respiratory system physiology",
- "urine chemical entity level phenotype",
- "organ phenotype",
- "ossification",
- "Abnormal respiratory system morphology",
- "Abnormality of the respiratory system",
- "peptide",
- "Acidosis",
- "phenotype",
- "thoracic segment organ",
- "biological_process",
- "thoracic segment organ phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "Abnormal bone ossification",
- "homeostatic process",
- "carbohydrate homeostasis phenotype",
- "respiratory system phenotype",
- "carbon oxoanion",
- "anatomical conduit",
- "acid bodily fluid level phenotype",
- "lung fibrosis",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "haemolymphatic fluid phenotype",
- "urine uric acid level phenotype",
- "thoracic cavity element phenotype",
- "anatomical structure",
- "anion",
- "organ physiology phenotype",
- "nephron epithelium",
- "lipid",
- "homeostatic process phenotype",
- "organism subdivision",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "oxoacid derivative",
- "respiration organ",
- "thoracic cavity element",
- "proximo-distal subdivision of respiratory tract",
- "subdivision of tube",
- "anatomical conduit phenotype",
- "viscus",
- "organ system subdivision",
- "decreased functionality of the anatomical entity",
- "organic cyclic compound",
- "organ part phenotype",
- "molecule",
- "hematopoietic system phenotype",
- "trunk",
- "s-block element atom",
- "multicellular anatomical structure phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "cavitated compound organ physiology phenotype",
- "pair of lungs",
- "atom",
- "anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "Abnormal circulating nitrogen compound concentration",
- "viscus phenotype",
- "organ part",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "carbohydrates and carbohydrate derivatives",
- "alkaline earth metal atom",
- "subdivision of tube phenotype",
- "upper urinary tract phenotype",
- "specifically dependent continuant",
- "Abnormal pulmonary interstitial morphology",
- "inorganic cation",
- "urine sodium atom level phenotype",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "taxon specific phenotype",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "entity",
- "body proper",
- "respiration organ phenotype",
- "independent continuant",
- "organism substance phenotype",
- "regulation of body fluid levels",
- "multicellular organism",
- "lateral structure",
- "Hypoglycemia",
- "lower respiratory tract",
- "heteroatomic molecular entity",
- "All",
- "bodily fluid",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "respiratory system",
- "respiratory airway",
- "respiratory system physiology phenotype",
- "anatomical system phenotype",
- "organooxygen compound",
- "glucose homeostasis",
- "biological regulation",
- "bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "Abnormal circulating metabolite concentration",
- "multicellular organism chemical entity level phenotype",
- "increased level of uric acid in urine",
- "decreased functionality of the excretory tube",
- "carbohydrate homeostasis",
- "abdomen element phenotype",
- "decreased functionality of the anatomical conduit",
- "hexose",
- "blood glucose level phenotype",
- "Abnormal circulating carbohydrate concentration",
- "Abnormal renal physiology",
- "Abnormal urine sodium concentration",
- "chemical homeostasis phenotype",
- "uriniferous tubule",
- "abdomen",
- "kidney",
- "Abnormal blood glucose concentration",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "thoracic segment of trunk",
- "chemical homeostasis",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "epithelial tube",
- "blood lipid level phenotype",
- "blood fatty acid level phenotype",
- "Abnormality of the upper urinary tract",
- "abdominal segment element physiology phenotype",
- "amino acid derivative",
- "phosphorus oxoacids and derivatives",
- "aldohexose",
- "mitochondrion",
- "compound organ physiology phenotype",
- "calcium atom level phenotype",
- "organic heterocyclic compound",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "Chronic kidney disease",
- "monocarboxylic acid anion",
- "abdominal segment element",
- "cavitated compound organ",
- "material entity",
- "abdomen element",
- "renal system phenotype",
- "tissue physiology phenotype",
- "cavitated compound organ phenotype",
- "renal system",
- "growth",
- "inorganic ion",
- "Hypophosphatemic rickets",
- "lateral structure physiology phenotype",
- "decreased level of chemical entity in blood",
- "Decreased circulating carnitine concentration",
- "intracellular organelle",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element physiology phenotype",
- "Renal insufficiency",
- "decreased anatomical entity strength",
- "glucose",
- "sodium atom level phenotype",
- "renal/urinary system phenotype",
- "Renal sodium wasting",
- "trunk region element physiology phenotype",
- "Abnormal skeletal morphology",
- "regulation of biological quality phenotype",
- "decreased role blood level",
- "kidney phenotype",
- "anatomical entity",
- "upper urinary tract",
- "calcium atom",
- "decreased level of carnitine in blood",
- "lung phenotype",
- "Dehydration",
- "abdominal segment element phenotype",
- "amino acid derivative level phenotype",
- "phosphate",
- "blood monocarboxylic acid level phenotype",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormality of the kidney",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
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- "ammonium betaine",
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- "polyatomic entity",
- "organic aromatic compound",
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- "blood uric acid level phenotype",
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- "membrane-bounded organelle",
- "blood phosphate level phenotype",
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- "skeletal system phenotype"
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- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome"
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- },
- {
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- "category": "biolink:Disease",
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- "symbol": null,
- "synonym": ["Fanconi-like syndrome"],
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- "HP:0001876",
- "HP:0005939",
- "HP:0002783",
- "HP:0007606"
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- },
- {
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- "category": "biolink:Disease",
- "name": "Fanconi syndrome, horse",
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- {
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- "in_taxon_label": null,
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- "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
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- },
- {
- "id": "MONDO:1011502",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, cattle",
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- "description": "Fanconi syndrome that occurs in cattle.",
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- },
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- "UMLS:C3150652"
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- "in_taxon_label": null,
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- "synonym": [
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- "SLC34A1 Fanconi syndrome"
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- "HP:0031415",
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- "HP:0004322",
- "HP:0002653",
- "HP:0012213",
- "HP:0002150",
- "HP:0000083"
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- "High serum calcitriol",
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- "Glycosuria",
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- "Renal insufficiency"
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- ],
- "has_phenotype_closure_label": [
- "Renal insufficiency",
- "Hypercalciuria",
- "increased level of calcium atom in urine",
- "s-block element atom",
- "urine calcium atom level phenotype",
- "calcium atom",
- "atom",
- "calcium atom level phenotype",
- "Abnormality of urine calcium concentration",
- "Abnormal glomerular filtration rate",
- "Decreased glomerular filtration rate",
- "Bone pain",
- "Pain",
- "Constitutional symptom",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "growth phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "decreased size of the multicellular organism",
- "blood protein polypeptide chain level phenotype",
- "blood organic amino compound level phenotype",
- "non-connected functional system",
- "increased level of chemical entity in blood serum",
- "protein level phenotype",
- "Abnormal circulating hormone concentration",
- "Hyperproteinemia",
- "Abnormal circulating organic compound concentration",
- "increased level of parathyroid hormone in blood",
- "Abnormal circulating protein concentration",
- "role blood serum level phenotype",
- "Abnormal circulating organic amino compound concentration",
- "increased blood serum role level",
- "Abnormal circulating nitrogen compound concentration",
- "blood serum chemical entity level phenotype",
- "increased blood serum base level",
- "endocrine system",
- "blood serum",
- "glandular system",
- "protein-containing molecular entity",
- "Acute phase response",
- "amino acid chain",
- "disconnected anatomical group",
- "blood plasma chemical entity level phenotype",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormality of the endocrine system",
- "Abnormal urinary organic compound level",
- "increased level of monosaccharide in urine",
- "alkaline earth metal atom",
- "carbohydrates and carbohydrate derivatives",
- "biomacromolecule",
- "macromolecule",
- "polypeptide",
- "protein polypeptide chain",
- "metabolic process phenotype",
- "small molecule metabolic process phenotype",
- "small molecule metabolic process",
- "hormone blood level phenotype",
- "size of multicellular organism phenotype",
- "increased level of chemical entity in blood plasma",
- "steroid metabolic process",
- "fat-soluble vitamin metabolic process",
- "increased bodily fluid role level",
- "D3 vitamins",
- "increased level of lipid in blood",
- "organic hydroxy compound metabolic process phenotype",
- "organic polycyclic compound",
- "polyol",
- "hydroxy steroid",
- "increased level of chemical entity in bodily fluid",
- "increased blood role level",
- "primary amide",
- "vitamin D level phenotype",
- "increased level of chemical entity in blood",
- "lipid metabolic process",
- "vitamin D metabolic process",
- "increased level of lipid",
- "glucose",
- "seco-steroid",
- "vitamin D",
- "hydroxycalciol",
- "vitamin D metabolic process phenotype",
- "hydroxy seco-steroid",
- "cyclic compound",
- "increased level of nitrogen molecular entity in blood",
- "Abnormal metabolism",
- "increased level of vitamin D",
- "blood organic molecular entity level phenotype",
- "polycyclic compound",
- "increased level of chemical entity",
- "Aciduria",
- "increased level of parathyroid hormone in blood serum",
- "Abnormal urine pH",
- "role urine level phenotype",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "organ phenotype",
- "renal system",
- "renal system physiology phenotype",
- "renal system phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "excretory tube",
- "multicellular anatomical structure physiology phenotype",
- "blood plasma",
- "genitourinary system phenotype",
- "tube phenotype",
- "organic hydroxy compound metabolic process",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "mesoderm-derived structure phenotype",
- "Abnormality of vitamin metabolism",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "kidney phenotype",
- "kidney",
- "amino acid",
- "blood lipid level phenotype",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "primary metabolic process phenotype",
- "trunk phenotype",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "tissue",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "decreased functionality of the kidney epithelium",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "decreased level of phosphate in blood",
- "Abnormality of vitamin D metabolism",
- "metabolic process",
- "excretory tube physiology phenotype",
- "Abnormal circulating calcium-phosphate regulating hormone concentration",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "nephron phenotype",
- "organic hydroxy compound",
- "nitrogen molecular entity",
- "Abnormal urine amino acid level",
- "vitamin metabolic process phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "occurrent",
- "nephron tubule",
- "organism substance",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "phosphate",
- "blood parathyroid hormone level phenotype",
- "abdominal segment element phenotype",
- "molecular entity",
- "multicellular organism",
- "process",
- "epithelium",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "Recurrent fractures",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "increased level of protein",
- "Abnormality of the genitourinary system",
- "Generalized aminoaciduria",
- "compound organ physiology phenotype",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "organic oxo compound",
- "decreased level of chemical entity",
- "main group molecular entity",
- "abdomen element",
- "material entity",
- "subdivision of organism along main body axis",
- "homeostatic process",
- "Abnormal bone ossification",
- "primary metabolic process",
- "anatomical structure",
- "organ physiology phenotype",
- "elemental molecular entity",
- "carbon oxoacid",
- "Abnormality of blood and blood-forming tissues",
- "organism substance phenotype",
- "endocrine system phenotype",
- "information biomacromolecule",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organ part",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "multicellular organism chemical entity level phenotype",
- "increased level of calcitriol in blood",
- "cavitated compound organ physiology phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "growth",
- "lateral structure physiology phenotype",
- "decreased level of chemical entity in blood",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "haemolymphatic fluid phenotype",
- "peptide",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "lipid metabolic process phenotype",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "blood oxygen molecular entity level phenotype",
- "decreased functionality of the epithelial tube",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "increased level of protein in blood",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "vitamin metabolic process",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "specifically dependent continuant",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "biological_process",
- "anatomical system",
- "quality",
- "Osteomalacia",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "steroid metabolic process phenotype",
- "material anatomical entity",
- "bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "Elevated circulating parathyroid hormone level",
- "Abnormal circulating metabolite concentration",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "parathyroid hormone",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "triol",
- "trunk region element physiology phenotype",
- "lipid",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "musculoskeletal system physiology phenotype",
- "anatomical entity physiology phenotype",
- "Proximal tubulopathy",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "main body axis",
- "musculature",
- "steroid",
- "organonitrogen compound",
- "metal atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "calcitriol",
- "urine chemical entity level phenotype",
- "carbonyl compound",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "organic cyclic compound",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "role bodily fluid level phenotype",
- "decreased functionality of the nephron epithelium",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "hydrogen molecular entity",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "trunk region element",
- "increased level of carboxylic acid in urine",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "abdominal segment of trunk",
- "excreta",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "increased level of amino acid in urine",
- "musculature of body phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal musculoskeletal physiology",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "carbohydrate",
- "skeletal system",
- "bone element phenotype",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "increased bodily fluid base level",
- "skeletal system morphology phenotype",
- "Abnormal skeletal morphology",
- "blood phenotype",
- "multicellular organismal process",
- "oxoacid",
- "ossification",
- "Renal phosphate wasting",
- "urine",
- "Abnormal urine phosphate concentration",
- "continuant",
- "Osteopenia",
- "organic molecular entity",
- "organic amino compound",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "hydroxides",
- "anatomical system phenotype",
- "organooxygen compound",
- "carboxylic acid",
- "increased level of organic acid in urine",
- "Abnormal blood ion concentration",
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- "amino acid level phenotype",
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- "organic acid",
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- "urine amino acid level phenotype",
- "polyatomic entity",
- "oxygen molecular entity",
- "Abnormal urine metabolite level"
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- "has_phenotype_count": 17,
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- },
- {
- "id": "MONDO:0014275",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 3",
- "full_name": null,
- "deprecated": null,
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
- "xref": [
- "DOID:0080759",
- "GARD:15991",
- "MEDGEN:816430",
- "OMIM:615605",
- "UMLS:C3810100"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "EHHADH Fanconi syndrome",
- "FRTS3",
- "Fanconi renotubular syndrome 3",
- "Fanconi renotubular syndrome type 3",
- "Fanconi syndrome caused by mutation in EHHADH"
- ],
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- "iri": null,
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- "HP:0003126"
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- "Rickets",
- "Bowing of the legs",
- "Glycosuria",
- "Renal insufficiency",
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- "Low-molecular-weight proteinuria"
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- ],
- "has_phenotype_closure_label": [
- "macromolecule",
- "Proteinuria",
- "polypeptide",
- "protein polypeptide chain",
- "Aciduria",
- "Abnormal urine pH",
- "Organic aciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "decreased size of the multicellular organism",
- "trunk phenotype",
- "Abnormality of the kidney",
- "organ physiology phenotype",
- "trunk region element",
- "subdivision of trunk phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element phenotype",
- "main body axis",
- "subdivision of organism along main body axis",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "Abnormality of the upper urinary tract",
- "cavitated compound organ",
- "abdominal segment element",
- "abdomen",
- "cavitated compound organ physiology phenotype",
- "compound organ physiology phenotype",
- "glucose",
- "role urine level phenotype",
- "hexose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "material anatomical entity, curved phenotype",
- "anatomical collection phenotype",
- "lateral structure phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "shape long bone",
- "limb skeleton subdivision phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "skeleton phenotype",
- "bone of appendage girdle complex phenotype",
- "lateral structure",
- "multi-limb segment region phenotype",
- "Abnormal limb bone morphology",
- "pelvic appendage phenotype",
- "posterior region of body",
- "organism subdivision phenotype",
- "long bone phenotype",
- "limb morphology phenotype",
- "shape anatomical entity",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "growth phenotype",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "Growth delay",
- "renal system phenotype",
- "renal system physiology phenotype",
- "creatinine",
- "urine chemical entity level phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "increased level of chemical entity in blood serum",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "increased level of creatinine in blood serum",
- "Abnormal circulating organic compound concentration",
- "role blood serum level phenotype",
- "Abnormality of blood and blood-forming tissues",
- "abdominal segment of trunk",
- "excreta",
- "anatomical entity mass density phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "imidazolidinone",
- "imidazolidines",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "increased urine role level",
- "Abnormal urinary electrolyte concentration",
- "independent continuant",
- "increased level of creatinine in blood",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "phenotypic effect",
- "system",
- "Abnormality of the genitourinary system",
- "quality",
- "heteromonocyclic compound",
- "Abnormal circulating nitrogen compound concentration",
- "phosphorus oxoacid derivative",
- "amide",
- "increased level of chemical entity in blood",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "blood chemical entity level phenotype",
- "bodily fluid",
- "All",
- "heteroatomic molecular entity",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "Renal insufficiency",
- "organ, curved phenotype",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "musculature",
- "limb endochondral element phenotype",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "blood creatinine level phenotype",
- "role bodily fluid level phenotype",
- "heteroorganic entity",
- "increased level of nitrogen molecular entity in blood",
- "subdivision of organism along appendicular axis",
- "lower limb segment, curved phenotype",
- "lateral structure physiology phenotype",
- "growth",
- "Abnormal circulating metabolite concentration",
- "limb",
- "genitourinary system",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "chemical entity",
- "subdivision of trunk",
- "organochalcogen compound",
- "increased blood role level",
- "multicellular organism",
- "nitrogen molecular entity",
- "endochondral element phenotype",
- "process",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "organic molecule",
- "increased blood serum role level",
- "Abnormality of limbs",
- "increased bodily fluid role level",
- "carbohydrates and carbohydrate derivatives",
- "limb bone",
- "organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "anatomical structure, curved phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "blood plasma chemical entity level phenotype",
- "compound organ",
- "carboxamide",
- "multi-limb segment region",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "haemolymphatic fluid phenotype",
- "size of multicellular organism phenotype",
- "limb bone morphology phenotype",
- "increased level of chemical entity in blood plasma",
- "organ system subdivision",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "paired limb/fin skeleton phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin segment",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "heterocyclic compound",
- "anatomical system",
- "zone of organ",
- "organic molecular entity",
- "body proper",
- "entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormality of the calf",
- "organism substance",
- "blood plasma",
- "genitourinary system phenotype",
- "Abnormality of bone mineral density",
- "lower limb segment",
- "peptide",
- "Acidosis",
- "hindlimb zeugopod phenotype",
- "phenotype",
- "leg",
- "cyclic amide",
- "Elevated circulating creatinine concentration",
- "subdivision of organism along appendicular axis, curved phenotype",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "monocyclic compound",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "blood organic molecular entity level phenotype",
- "lactam",
- "metabolic process",
- "hindlimb",
- "hemolymphoid system",
- "role blood level phenotype",
- "cyclic compound",
- "delayed biological_process",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system",
- "limb segment",
- "taxon specific phenotype",
- "Low-molecular-weight proteinuria",
- "organonitrogen heterocyclic compound",
- "primary amide",
- "blood oxygen molecular entity level phenotype",
- "Metabolic acidosis",
- "occurrent",
- "limb segment, curved phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Abnormality of urine homeostasis",
- "oxoacid derivative",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "homeostatic process phenotype",
- "organism subdivision",
- "kidney phenotype",
- "leg phenotype",
- "increased level of chemical entity",
- "biological_process",
- "trunk",
- "molecule",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "multicellular organism chemical entity level phenotype",
- "pelvic complex",
- "excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "decreased size of the multicellular anatomical structure",
- "hindlimb zeugopod",
- "anatomical entity phenotype",
- "phosphate",
- "urine",
- "renal system",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "appendage phenotype",
- "Abnormal urine phosphate concentration",
- "phosphoric acid derivative",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "anatomical entity physiology phenotype",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "appendage",
- "Abnormal circulating creatinine concentration",
- "urine phosphate level phenotype",
- "Abnormality of the urinary system physiology",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "multicellular anatomical structure",
- "Azotemia",
- "blood",
- "Hyperphosphaturia",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure physiology phenotype",
- "limb endochondral element",
- "Abnormality of the skeletal system",
- "diazolidine",
- "blood serum chemical entity level phenotype",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "organic heterocyclic compound",
- "Decreased anatomical entity mass density",
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- "ossification",
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- "paired limb/fin",
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- "hindlimb zeugopod morphology phenotype",
- "organic cyclic compound",
- "organism subdivision, curved phenotype",
- "endochondral bone phenotype",
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- "chalcogen molecular entity",
- "zone of bone organ",
- "bodily fluid phenotype",
- "pelvic appendage",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "skeletal element, curved phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "anatomical collection",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "blood serum",
- "endochondral element",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "paired limb/fin phenotype",
- "curved hindlimb zeugopod",
- "long bone",
- "limb segment phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "long bone morphology phenotype",
- "paired limb/fin skeleton"
- ],
- "has_phenotype_count": 11,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0024525",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
- "full_name": null,
- "deprecated": null,
- "description": null,
- "xref": [
- "DOID:0080757",
- "MEDGEN:1635492",
- "OMIM:134600",
- "UMLS:C4551503"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
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- "HP:0003355",
- "HP:0004322",
- "HP:0003126",
- "HP:0001324"
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- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
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- "Elevated circulating alkaline phosphatase concentration",
- "Renal insufficiency",
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- "Short stature",
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- "Muscle weakness"
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- ],
- "has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
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- },
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- "has_phenotype_closure_label": [
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- "disconnected anatomical group",
- "organ physiology phenotype",
- "Stage 5 chronic kidney disease",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Chronic kidney disease",
- "cavitated compound organ physiology phenotype",
- "Tubulointerstitial fibrosis",
- "renal system morphology phenotype",
- "epithelial tube phenotype",
- "Abnormal renal insterstitial morphology",
- "Abnormal tubulointerstitial morphology",
- "renal tubule",
- "kidney morphology phenotype",
- "nephron morphology phenotype",
- "epithelium",
- "Renal fibrosis",
- "abdomen element phenotype",
- "cavitated compound organ phenotype",
- "Abnormal renal morphology",
- "Abnormal nephron morphology",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "Abnormal cardiovascular system physiology",
- "excretory tube",
- "cavitated compound organ",
- "abdominal segment element",
- "uriniferous tubule",
- "abdomen",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "tissue",
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- "carbonyl compound",
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- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "organic molecule",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Non-small cell lung carcinoma",
- "Neoplasm",
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- "cell and tissue damage process",
- "tissue specific degenerative process",
- "pathological phenotype observation",
- "glucose",
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- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "abdominal segment of trunk",
- "excreta",
- "role urine level phenotype",
- "genitourinary system",
- "blood vessel",
- "macromolecule",
- "Abnormality of the urinary system physiology",
- "heteroorganic entity",
- "organonitrogen compound",
- "renal system",
- "urine",
- "circulatory system phenotype",
- "renal system physiology phenotype",
- "renal system phenotype",
- "primary amide",
- "polypeptide",
- "genitourinary system phenotype",
- "Abnormality of urine homeostasis",
- "increased urine role level",
- "organic molecular entity",
- "anatomical cluster phenotype",
- "nitrogen molecular entity",
- "protein polypeptide chain",
- "Abnormal DLCO",
- "Decreased DLCO",
- "tissue phenotype",
- "Abnormality on pulmonary function testing",
- "Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Hyperchloremic metabolic acidosis",
- "Abnormality of the genitourinary system",
- "system",
- "material anatomical entity, curved phenotype",
- "skeletal joint morphology phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "articular system",
- "appendicular skeleton phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "bone of appendage girdle complex phenotype",
- "cardiovascular system",
- "limb bone morphology phenotype",
- "multi organ part structure phenotype",
- "skeletal joint phenotype",
- "Abnormal limb bone morphology",
- "nephron epithelium phenotype",
- "pelvic appendage phenotype",
- "appendage",
- "Abnormal renal tubule morphology",
- "posterior region of body",
- "long bone phenotype",
- "renal tubule phenotype",
- "organ",
- "knee",
- "increased level of chemical entity",
- "respiratory system morphology phenotype",
- "ion",
- "organochalcogen compound",
- "subdivision of trunk",
- "Abnormal systemic blood pressure",
- "main body axis",
- "musculature",
- "organism subdivision phenotype",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "anatomical entity physiology phenotype",
- "tube",
- "proximo-distal subdivision of respiratory tract",
- "thoracic cavity element",
- "Abnormal pulmonary interstitial morphology",
- "limb endochondral element phenotype",
- "limb skeleton subdivision phenotype",
- "lower respiratory tract",
- "pnictogen molecular entity",
- "Abnormality of lower limb joint",
- "anatomical entity morphology in the respiratory system phenotype",
- "subdivision of organism along main body axis",
- "main group molecular entity",
- "abdomen element",
- "material entity",
- "Abnormality of the kidney",
- "hindlimb joint phenotype",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "skeleton",
- "organ phenotype",
- "abdominal segment element phenotype",
- "lung phenotype",
- "pair of lungs",
- "anatomical collection",
- "viscus phenotype",
- "thoracic cavity element phenotype",
- "haemolymphatic fluid phenotype",
- "respiration organ",
- "phosphoric acid derivative",
- "subdivision of tube",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "anatomical conduit",
- "oxoacid derivative",
- "kidney phenotype",
- "leg phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "multi-limb segment region phenotype",
- "decreased level of phosphate in blood",
- "metabolic process",
- "hindlimb",
- "skeletal system phenotype",
- "monoatomic entity",
- "blood chemical entity level phenotype",
- "anatomical collection phenotype",
- "occurrent",
- "limb segment, curved phenotype",
- "nephron tubule",
- "organism substance",
- "appendage phenotype",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "limb morphology phenotype",
- "lung morphology phenotype",
- "phosphate",
- "molecular entity",
- "lateral structure",
- "bone element mass density phenotype",
- "multicellular organism",
- "process",
- "subdivision of organism along main body axis phenotype",
- "vasculature",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "Hypophosphatemia",
- "organooxygen compound",
- "subdivision of organism along appendicular axis, curved phenotype",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "cardiovascular system phenotype",
- "respiratory system phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "respiration organ phenotype",
- "decreased level of chemical entity",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "nephron epithelium",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "organism subdivision",
- "homeostatic process phenotype",
- "limb endochondral element",
- "elemental molecular entity",
- "Abnormality of blood and blood-forming tissues",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "lower limb segment",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "endochondral bone phenotype",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "skeleton phenotype",
- "lung fibrosis",
- "continuant",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "Emphysema",
- "thoracic segment organ",
- "viscus",
- "organ system subdivision",
- "shape long bone",
- "decreased level of chemical entity in blood",
- "phosphate level phenotype",
- "monoatomic ion",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "cardiovascular system physiology phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "anatomical cluster",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "haemolymphatic fluid",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "thoracic segment of trunk",
- "shape anatomical entity",
- "Neoplasm of the lung",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "anatomical system",
- "zone of organ",
- "quality",
- "leg",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "carbohydrates and carbohydrate derivatives",
- "subdivision of tube phenotype",
- "limb bone",
- "organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "epithelium phenotype",
- "anatomical structure, curved phenotype",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Lung adenocarcinoma",
- "pelvic appendage",
- "bodily fluid phenotype",
- "Abnormality of limbs",
- "hemolymphoid system",
- "Renal insufficiency",
- "organ, curved phenotype",
- "Abnormal circulating metabolite concentration",
- "limb",
- "independent continuant",
- "entity",
- "body proper",
- "excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "hindlimb zeugopod",
- "Abnormality of the vasculature",
- "multicellular anatomical structure",
- "blood",
- "pelvic complex",
- "endoderm-derived structure",
- "anatomical entity phenotype",
- "Neoplasm of the respiratory system",
- "urine chemical entity level phenotype",
- "Abnormal respiratory system physiology",
- "multicellular organism chemical entity level phenotype",
- "trunk region element",
- "carboxamide",
- "compound organ",
- "respiratory system physiology phenotype",
- "respiratory system",
- "respiratory airway",
- "Abnormality of the respiratory system",
- "biological_process",
- "thoracic segment organ phenotype",
- "lateral structure phenotype",
- "paired limb/fin segment",
- "anatomical conduit phenotype",
- "articulation",
- "Pulmonary fibrosis",
- "subdivision of trunk phenotype",
- "hindlimb joint",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "Abnormality of the skeletal system",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "Decreased anatomical entity mass density",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormal bone structure",
- "skeletal system morphology phenotype",
- "excretory tube phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormality of the knee",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "Hypertension",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "lateral structure physiology phenotype",
- "Hypophosphatemic rickets",
- "anatomical entity mass density phenotype",
- "musculoskeletal system",
- "limb segment",
- "Abnormal respiratory system morphology",
- "ossification",
- "zeugopod phenotype",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "nephron",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organ part phenotype",
- "organism subdivision, curved phenotype",
- "multi organ part structure",
- "chalcogen molecular entity",
- "zone of bone organ",
- "compound organ physiology phenotype",
- "nephron tubule morphology phenotype",
- "articulation phenotype",
- "skeletal joint",
- "subdivision of organism along appendicular axis",
- "nephron tubule phenotype",
- "lower limb segment, curved phenotype",
- "organic oxo compound",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "long bone",
- "limb segment phenotype",
- "limb joint",
- "pathological process",
- "skeletal element, curved phenotype",
- "knee morphology phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "vasculature phenotype",
- "urine amino acid level phenotype",
- "Abnormal knee morphology",
- "blood vasculature",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "peptide",
- "Acidosis",
- "phenotype",
- "hindlimb zeugopod phenotype",
- "Genu valgum",
- "multi-limb segment region",
- "kidney epithelium morphology phenotype",
- "endochondral element",
- "paired limb/fin phenotype",
- "circulatory system",
- "Abnormal lung morphology",
- "curved hindlimb zeugopod",
- "Abnormal joint morphology",
- "kidney epithelium",
- "emphysema",
- "Abnormality of the calf",
- "knee phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "endochondral element phenotype",
- "long bone morphology phenotype",
- "endoderm-derived structure phenotype",
- "paired limb/fin skeleton",
- "kidney",
- "multicellular anatomical structure, curved phenotype"
- ],
- "has_phenotype_count": 14,
- "highlight": null,
- "score": null
- },
- {
- "id": "HP:0001994",
- "category": "biolink:PhenotypicFeature",
- "name": "Renal Fanconi syndrome",
- "full_name": null,
- "deprecated": null,
- "description": null,
- "xref": null,
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "De toni-fanconi-debre syndrome",
- "Renal tubular fanconi syndrome"
- ],
- "uri": null,
- "iri": null,
- "namespace": "HP",
- "has_phenotype": null,
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- "has_phenotype_count": 0,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0012186",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group I",
- "full_name": null,
- "deprecated": null,
- "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
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- "GARD:15448",
- "MEDGEN:323016",
- "MESH:C563802",
- "NCIT:C129026",
- "OMIM:609053",
- "UMLS:C1836861"
- ],
- "provided_by": "phenio_nodes",
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- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "FANCI",
- "Fanconi Anemia, complementation Group 1",
- "Fanconi Anemia, complementation group type 1",
- "Fanconi anaemia complementation group type I",
- "Fanconi anemia complementation group I",
- "Fanconi anemia complementation group type I",
- "Fanconi anemia, complementation group I"
- ],
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- "Anemia",
- "Ventricular septal defect",
- "Short 1st metacarpal",
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- "Hearing impairment",
- "Astigmatism",
- "Decreased body weight",
- "Absent septum pellucidum",
- "Bone marrow hypocellularity"
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- "UPHENO:0008686",
- "GO:0060255",
- "UBERON:0002417",
- "UPHENO:0026096",
- "UPHENO:0025546",
- "UPHENO:0009366",
- "UPHENO:0025509",
- "UPHENO:0008703",
- "UPHENO:0087501",
- "UPHENO:0002546",
- "UPHENO:0011492",
- "HP:0002011",
- "UPHENO:0025808",
- "HP:0001671",
- "UPHENO:0005029",
- "UPHENO:0025883",
- "CL:0000775",
- "UPHENO:0076805",
- "UPHENO:0026808",
- "UPHENO:0026239",
- "UPHENO:0082761",
- "UPHENO:0069272",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0084820",
- "UPHENO:0088186",
- "UPHENO:0005596",
- "UBERON:0000160",
- "UPHENO:0002764",
- "UPHENO:0076755",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UPHENO:0087334",
- "UPHENO:0026506",
- "HP:0003117",
- "UBERON:0002114",
- "UBERON:0015042",
- "UPHENO:0002988",
- "UBERON:0004111",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0076703",
- "UPHENO:0078089",
- "UPHENO:0081594",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0086173",
- "UBERON:0002285",
- "UPHENO:0002994",
- "UBERON:0012357",
- "UPHENO:0002652",
- "UBERON:0004921",
- "UPHENO:0053330",
- "UBERON:0000020",
- "GO:0030252",
- "UBERON:0001007",
- "UPHENO:0002303",
- "UPHENO:0031142",
- "UPHENO:0025587",
- "HP:0002247",
- "HP:0030962",
- "UPHENO:0002689",
- "UPHENO:0088020",
- "UPHENO:0002377",
- "UBERON:0005409",
- "UBERON:0003103",
- "UPHENO:0003952",
- "UPHENO:0074228",
- "UPHENO:0063558",
- "UPHENO:0001002",
- "UPHENO:0002239",
- "HP:0002973",
- "UPHENO:0063569",
- "HP:0002246",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "UBERON:0010230",
- "UPHENO:0069125",
- "UPHENO:0074229",
- "HP:0030048",
- "GO:0050877",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UPHENO:0063586",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0010740",
- "UPHENO:0003227",
- "UPHENO:0002945",
- "UBERON:0000025",
- "HP:0001098",
- "HP:0025461",
- "UPHENO:0046483",
- "HP:0006496",
- "UPHENO:0002751",
- "UPHENO:0046397",
- "UPHENO:0076720",
- "HP:0032251",
- "UPHENO:0081204",
- "UPHENO:0084763",
- "UPHENO:0046490",
- "UPHENO:0081313",
- "UPHENO:0046554",
- "HP:0000483",
- "UBERON:0019261",
- "UBERON:0002049",
- "UBERON:0005181",
- "UPHENO:0002544",
- "HP:0000085",
- "UPHENO:0004909",
- "UPHENO:0002880",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0002538",
- "HP:0006501",
- "CL:0000766",
- "UPHENO:0050034",
- "UPHENO:0046403",
- "HP:0012759",
- "UPHENO:0075933",
- "UPHENO:0068912",
- "UBERON:0015061",
- "GO:0010817",
- "HP:0009826",
- "HP:0025015",
- "UPHENO:0066905",
- "UPHENO:0003936",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0069328",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UPHENO:0026486",
- "UPHENO:0009209",
- "UBERON:0006058",
- "UPHENO:0074237",
- "UPHENO:0046552",
- "UPHENO:0081091",
- "UPHENO:0076718",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0026181",
- "UBERON:0005281",
- "UPHENO:0012274",
- "UPHENO:0087750",
- "UPHENO:0003095",
- "UPHENO:0003514",
- "UPHENO:0026146",
- "UPHENO:0002785",
- "HP:0000152",
- "UPHENO:0068838",
- "HP:0012145",
- "UPHENO:0046540",
- "UPHENO:0002467",
- "HP:0002817",
- "UPHENO:0003030",
- "UBERON:0004732",
- "UPHENO:0002562",
- "UPHENO:0046472",
- "UBERON:0008962",
- "UBERON:0004453",
- "UBERON:0015001",
- "HP:0100240",
- "UPHENO:0025135",
- "UPHENO:0068848",
- "UBERON:0006717",
- "UPHENO:0002593",
- "UPHENO:0002550",
- "HP:0011991",
- "UPHENO:0068898",
- "UPHENO:0002746",
- "UPHENO:0002954",
- "UBERON:0010712",
- "UBERON:0011249",
- "UPHENO:0011546",
- "UPHENO:0008707",
- "RO:0002577",
- "UBERON:0004765",
- "UPHENO:0002246",
- "UBERON:0010703",
- "HP:0010993",
- "UBERON:0002428",
- "UPHENO:0026095",
- "UPHENO:0002648",
- "UPHENO:0002719",
- "HP:0030680",
- "UPHENO:0087349",
- "UPHENO:0002870",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0005927",
- "UPHENO:0074310",
- "UBERON:0001981",
- "CL:0000000",
- "UPHENO:0002725",
- "UPHENO:0026010",
- "UBERON:0010538",
- "HP:0005773",
- "UBERON:0003221",
- "UPHENO:0002594",
- "HP:0009815",
- "UBERON:0002495",
- "HP:0005528",
- "UPHENO:0003065",
- "UPHENO:0002650",
- "UPHENO:0049894",
- "HP:0001167",
- "UBERON:0000026",
- "UPHENO:0002800",
- "UBERON:0003645",
- "HP:0005561",
- "UPHENO:0025166",
- "UBERON:0004120",
- "UBERON:0011584",
- "UPHENO:0052178",
- "HP:0003422",
- "HP:0040070",
- "UPHENO:0012312",
- "UBERON:0002405",
- "HP:0011017",
- "GO:0006810",
- "UPHENO:0046396",
- "UBERON:0004714",
- "HP:0000818",
- "HP:0006503",
- "UBERON:0003544",
- "UBERON:0013768",
- "UPHENO:0002969",
- "HP:0002715",
- "GO:0023052",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UPHENO:0009295",
- "UPHENO:0046741",
- "UPHENO:0087518",
- "UPHENO:0002211",
- "UBERON:0000060",
- "UPHENO:0002717",
- "UPHENO:0075944",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0075195",
- "UPHENO:0004523",
- "UPHENO:0046445",
- "UBERON:0006314",
- "UPHENO:0046594",
- "UBERON:0002390",
- "BFO:0000040",
- "UBERON:0000941",
- "UPHENO:0011544",
- "CL:0000255",
- "HP:0001172",
- "UPHENO:0011572",
+ "Abnormal involuntary eye movements",
+ "Abnormal tracheal morphology",
+ "cerebrospinal fluid",
+ "main body axis",
+ "tissue development",
+ "venous blood vessel",
+ "camera-type eye phenotype",
+ "physiologic nystagmus phenotype",
+ "increased size of the immaterial anatomical entity",
+ "manus",
+ "chemosensory system",
+ "organ physiology phenotype",
+ "Microphthalmia",
+ "absent anatomical entity in the multicellular organism",
+ "renal system phenotype",
+ "bone marrow cell",
+ "multicellular organism phenotype",
+ "upper limb segment",
+ "biological_process",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "camera-type eye physiology phenotype",
+ "blood vessel morphology phenotype",
+ "zone of skin morphology phenotype",
+ "ganglion",
+ "subdivision of head phenotype",
+ "Abnormality of the curvature of the cornea",
+ "cell",
+ "Abnormality of the mouth",
+ "Finger syndactyly",
+ "lower respiratory tract",
+ "visual system",
+ "uvea morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal system physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "Hypermelanotic macule",
+ "simple eye",
+ "Abnormality of the skeletal system",
+ "zone of organ phenotype",
+ "trachea",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Abnormal respiratory system morphology",
+ "Multiple cafe-au-lait spots",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal lens morphology",
+ "simple eye physiology phenotype",
+ "Anal atresia",
+ "anatomical conduit",
+ "Abnormality of the head",
+ "Abnormal enteric nervous system morphology",
+ "future central nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "fused pedal digit and pedal digit",
+ "ocular surface region morphology phenotype",
+ "decreased length of anatomical structure",
+ "cornea",
+ "abdominal wall",
+ "3-D shape anatomical entity",
+ "external male genitalia",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "orifice",
+ "shape cornea",
+ "multicellular organism development phenotype",
+ "Abnormal eye physiology",
+ "asymmetrically curved anatomical entity",
+ "Dolichocephaly",
+ "common carotid artery plus branches",
+ "drooping eyelid",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "decreased length of bone of pectoral complex",
+ "ventricle of nervous system phenotype",
+ "increased number of anatomical structure",
+ "delayed biological_process",
+ "systemic artery",
+ "organism substance",
+ "Abnormality of body height",
+ "decreased size of the mesoderm-derived structure",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "non-material anatomical boundary",
+ "Abnormality of head or neck",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "lower urinary tract phenotype",
+ "non-connected functional system",
+ "increased number of anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Clinodactyly of the 5th finger",
+ "sense organ",
+ "orbital region",
+ "hypertrophic heart right ventricle",
+ "vasculature phenotype",
+ "Abnormality of the endocrine system",
+ "forelimb",
+ "skeleton of pelvic complex",
+ "anterior segment of eyeball morphology phenotype",
+ "face phenotype",
+ "Abnormal frontal bone morphology",
+ "Abnormality of lower limb joint",
+ "curvature anatomical entity",
+ "increased number of material anatomical entity",
+ "skeletal system",
+ "hindlimb skeleton",
+ "protein-containing material entity",
+ "anatomical entity phenotype",
+ "gamete generation",
+ "organ part phenotype",
+ "male organism",
+ "fused pedal digit and anatomical entity",
+ "Irregular hyperpigmentation",
+ "lateral structure phenotype",
+ "pelvic girdle region",
+ "paired limb/fin segment",
+ "multicellular organism development",
+ "Ventriculomegaly",
+ "urethra",
+ "thoracic segment organ",
+ "Astigmatism",
+ "Abnormal carotid artery morphology",
+ "anterior region of body",
+ "Abnormal reproductive system morphology",
+ "lateral structure physiology phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "upper leg bone",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "asymmetrically curved cornea",
+ "decreased qualitatively reproductive process",
+ "dermal skeletal element phenotype",
+ "neural crest-derived structure",
+ "incomplete closing of the interatrial septum",
+ "epithelial tube formation",
+ "digestive system element phenotype",
+ "brain ventricle morphology phenotype",
+ "Abnormal umbilicus morphology",
+ "increased number of organ part in the cerebrospinal fluid",
+ "Abnormal joint morphology",
+ "transudate",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "multi cell part structure",
+ "vein",
+ "limb long bone morphology phenotype",
+ "bodily fluid",
+ "multi-tissue structure",
+ "facial skeleton morphology phenotype",
+ "limb long bone phenotype",
+ "All",
+ "Abnormal bone structure",
+ "naris phenotype",
+ "lens of camera-type eye morphology phenotype",
+ "nervous system phenotype",
+ "postcranial axial skeletal system",
+ "Clubbing of toes",
+ "arterial system",
+ "bone of pelvic complex morphology phenotype",
+ "kidney morphology phenotype",
+ "dorsum",
+ "nervous system development",
+ "tube formation phenotype",
+ "peripheral nervous system phenotype",
+ "tissue",
+ "cell differentiation",
+ "forelimb zeugopod bone morphology phenotype",
+ "brain ventricle",
+ "future nervous system",
+ "regional part of nervous system phenotype",
+ "Reduced bone mineral density",
+ "circulatory system",
+ "Spina bifida",
+ "embryo development ending in birth or egg hatching",
+ "epithelial tube morphogenesis",
+ "morphogenesis of an epithelium",
+ "appendicular skeleton",
+ "spinal cord",
+ "Abnormal facial skeleton morphology",
+ "multi organ part structure",
+ "increased length of the anatomical line between pupils",
+ "manual digit 1 phalanx",
+ "orifice phenotype",
+ "neocortex morphology phenotype",
+ "gamete",
+ "upper jaw region",
+ "palpebral fissure phenotype",
+ "Upslanted palpebral fissure",
+ "manual digit plus metapodial segment",
+ "Abnormal bone ossification",
+ "Abnormal testis morphology",
+ "deviation of anatomical entity towards the middle",
+ "Abnormal eyelid morphology",
+ "palpebral fissure",
+ "female reproductive organ",
+ "ocular adnexa",
+ "opaque lens of camera-type eye",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "lens of camera-type eye phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "transparent eye structure phenotype",
+ "Cataract",
+ "heart right ventricle",
+ "increased size of the anatomical entity",
+ "lens of camera-type eye",
+ "Atrial septal defect",
+ "drooping anatomical entity",
+ "eyelid phenotype",
+ "large intestine",
+ "Ptosis",
+ "Abnormal cornea morphology",
+ "gland",
+ "clavate digit",
+ "decreased size of the anatomical structure",
+ "shape eyelid",
+ "decreased qualitatively sensory perception",
+ "incomplete closing of the multicellular anatomical structure",
+ "Hydrocephalus",
+ "telencephalon morphology phenotype",
+ "hindlimb morphology phenotype",
+ "anatomical projection",
+ "number of hematopoietic cell phenotype",
+ "Eumetazoa",
+ "phalanx morphology phenotype",
+ "Eukaryota",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "forebrain morphology phenotype",
+ "root",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormality of the male genitalia",
+ "increased size of the organ part",
+ "cellular organisms",
+ "size of skull phenotype",
+ "increased length of the multicellular anatomical structure",
+ "Bicornuate uterus",
+ "regional part of brain phenotype",
+ "limb long bone",
+ "aplasia or hypoplasia of anatomical entity",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "size of anatomical entity phenotype",
+ "female reproductive system morphology phenotype",
+ "telencephalon",
+ "cranial skeletal system",
+ "nose",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "tube closure",
+ "ocular adnexa phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autonomic nervous system phenotype",
+ "Abnormality of the abdominal organs",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "Deviation of the 5th finger",
+ "regional part of brain",
+ "regional part of nervous system",
+ "interventricular septum",
+ "increased length of the anatomical line",
+ "ganglion of peripheral nervous system morphology phenotype",
+ "Abnormal midface morphology",
+ "Abnormal skull morphology",
+ "skull morphology phenotype",
+ "oral cavity",
+ "Abnormality of the ocular adnexa",
+ "Opisthokonta",
+ "testis",
+ "left cardiac chamber",
+ "Aplasia/Hypoplasia of the testes",
+ "Abnormality of the testis size",
+ "gonad",
+ "palatine uvula morphology phenotype",
+ "Decreased anatomical entity mass density",
+ "embryo",
+ "Absent testis",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "secondary palate morphology phenotype",
+ "decreased length of forelimb bone",
+ "long bone phenotype",
+ "Abnormality of the outer ear",
+ "number of myeloid cell phenotype",
+ "absent germ cell",
+ "ear morphology phenotype",
+ "bone element phenotype",
+ "male reproductive system phenotype",
+ "vestibulo-auditory system",
+ "anterior uvea",
+ "Abnormality of blood and blood-forming tissues",
+ "external ear phenotype",
+ "Abnormal cerebral cortex morphology",
+ "forebrain",
+ "increased qualitatively biological_process",
+ "increased size of the non-material anatomical boundary",
+ "incomplete closing of the organ",
+ "Abnormal pinna morphology",
+ "Abnormal ear morphology",
+ "ear",
+ "artery morphology phenotype",
+ "developmental process involved in reproduction phenotype",
+ "male reproductive organ physiology phenotype",
+ "internal male genitalia",
+ "anatomical entity morphology in the brain phenotype",
+ "incomplete closing of the ectoderm-derived structure",
+ "eyeball of camera-type eye phenotype",
+ "increased size of the anatomical structure",
+ "multi organ part structure phenotype",
+ "increased size of the ventricle of nervous system",
+ "epicanthal fold",
+ "hindlimb long bone",
+ "decreased length of multicellular anatomical structure",
+ "abdomen element phenotype",
+ "increased size of the organ component layer",
+ "Abnormal nasal morphology",
+ "internal male genitalia physiology phenotype",
+ "duodenum morphology phenotype",
+ "Abnormality of the nervous system",
+ "pedal digit digitopodial skeleton",
+ "paralysed cranial nerve",
+ "increased size of the ectoderm-derived structure",
+ "abdomen element physiology phenotype",
+ "increased length of the zone of organ",
+ "absent anatomical structure",
+ "trunk",
+ "manual digit 5 plus metapodial segment",
+ "female reproductive system phenotype",
+ "zone of organ",
+ "skull phenotype",
+ "increased size of the brain ventricle",
+ "increased size of the multicellular anatomical structure",
+ "visual perception phenotype",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "digestive system morphology phenotype",
+ "exocrine gland phenotype",
+ "Decreased fertility",
+ "Abnormality of the genitourinary system",
+ "exocrine system",
+ "decreased length of forelimb endochondral element",
+ "intromittent organ",
+ "respiratory system morphology phenotype",
+ "gland phenotype",
+ "Abnormality of the liver",
+ "fused anatomical entity and manual digit",
+ "incomplete closing of the roof of mouth",
+ "liver",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Visual impairment",
+ "ulna",
+ "deviation of manual digit towards the middle",
+ "abdomen",
+ "trunk region element phenotype",
+ "Conotruncal defect",
+ "digestive system gland",
+ "musculoskeletal system",
+ "abdominal segment element",
+ "gonad phenotype",
+ "internal ear phenotype",
+ "liver phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "gamete generation phenotype",
+ "subdivision of skeletal system",
+ "hepatobiliary system",
+ "male germ cell",
+ "Aplasia/Hypoplasia of the uvula",
+ "behavior process",
+ "cardiovascular system morphology phenotype",
+ "anterior chamber of eyeball",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "increased size of the right cardiac chamber",
+ "hypothalamus-pituitary axis phenotype",
+ "posterior nasal aperture phenotype",
+ "hypothalamus-pituitary axis",
+ "Abnormal reflex",
+ "hindlimb joint",
+ "anatomical line phenotype",
+ "penis",
+ "increased size of the anatomical line",
+ "tube phenotype",
+ "Hypertelorism",
+ "increased length of the anatomical entity",
+ "anatomical line",
+ "immaterial anatomical entity phenotype",
+ "non-material anatomical boundary phenotype",
+ "increased length of the immaterial anatomical entity",
+ "Decreased multicellular organism mass",
+ "Aplasia/Hypoplasia of the ulna",
+ "intestine",
+ "ectoderm-derived structure phenotype",
+ "immaterial anatomical entity",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "location of eyeball of camera-type eye phenotype",
+ "decreased size of the sense organ",
+ "vessel",
+ "spermatogenesis phenotype",
+ "anatomical entity atresia",
+ "Abnormal spermatogenesis",
+ "absent material anatomical entity in the multicellular organism",
+ "morphogenesis of embryonic epithelium",
+ "haploid cell",
+ "germ line cell",
+ "Cafe-au-lait spot",
+ "gamete phenotype",
+ "absent material anatomical entity",
+ "spermatogenesis",
+ "internal naris",
+ "sperm",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "decreased qualitatively developmental process",
+ "reproductive process phenotype",
+ "male gamete",
+ "prepuce of penis morphology phenotype",
+ "absent gamete",
+ "decreased sensory perception of mechanical stimulus",
+ "iris",
+ "integumental system",
+ "semen",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "decreased gamete generation",
+ "absent anatomical entity in the semen",
+ "subdivision of skeleton phenotype",
+ "male reproductive system physiology phenotype",
+ "conceptus",
+ "decreased multicellular organismal reproductive process",
+ "Abnormal cellular phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "absent anatomical entity",
+ "internal genitalia",
+ "skeleton of pes",
+ "pes morphology phenotype",
+ "organ part morphology in the heart phenotype",
+ "reproduction",
+ "closing of the anatomical conduit",
+ "developmental process rate phenotype",
+ "epithelium",
+ "autopodial skeleton",
+ "outflow tract of ventricle",
+ "increased size of the brain ventricle/choroid plexus",
+ "Abnormality of the skin",
+ "biological_process rate phenotype",
+ "Abnormality of the palpebral fissures",
+ "obsolete multicellular organism reproduction",
+ "decreased developmental process",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "multicellular organismal reproductive process phenotype",
+ "Abnormality of the nose",
+ "developmental process involved in reproduction",
+ "sexual reproduction",
+ "male gamete generation",
+ "fused anatomical entity and digit",
+ "hematopoietic system phenotype",
+ "small intestine morphology phenotype",
+ "small intestine",
+ "cavitated compound organ",
+ "Abnormal duodenum morphology",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "Abnormal foot morphology",
+ "Duodenal stenosis",
+ "testis phenotype",
+ "Abnormality of movement",
+ "intestine morphology phenotype",
+ "subdivision of tube phenotype",
+ "increased length of the skin of head",
+ "Azoospermia",
+ "Abnormal small intestine morphology",
+ "clavate anatomical entity",
+ "Hydroureter",
+ "membrane bone phenotype",
+ "Abnormal uterus morphology",
+ "myocardium phenotype",
+ "Abnormal oral morphology",
+ "Choanal atresia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "continuant",
+ "hindlimb",
+ "Functional abnormality of the inner ear",
+ "pedal digit",
+ "leg",
+ "neoplasm phenotype",
+ "phalanx of pes",
+ "cardiac valve morphology phenotype",
+ "orifice atresia",
+ "digitopodium bone",
+ "phalanx",
+ "Abnormality of the lower limb",
+ "jaw skeleton",
+ "exocrine gland",
+ "hindlimb bone",
+ "phalanx endochondral element",
+ "skeleton of pedal digitopodium",
+ "skeleton of pedal acropodium",
+ "vertebral centrum element",
+ "pelvic appendage skeleton",
+ "pes",
+ "segment of pes",
+ "voluntary movement behavior",
+ "Renal hypoplasia/aplasia",
+ "localised reproductive structure",
+ "digitopodium region",
+ "fused manual digit and manual digit",
+ "pedal digitopodium region",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "lower limb segment",
+ "increased length of the anatomical structure",
+ "pedal digitopodium bone",
+ "prepuce of penis",
+ "concave 3-D shape anatomical entity",
+ "digit morphology phenotype",
+ "pelvic complex",
+ "duodenum",
+ "formed organ subunit",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "joint of girdle morphology phenotype",
+ "Proptosis",
+ "hindlimb stylopod",
+ "lower limb segment phenotype",
+ "pelvic girdle skeleton",
+ "pedal digit morphology phenotype",
+ "posterior region of body",
+ "Abnormal lower limb bone morphology",
+ "incomplete closing of the arch of centrum of vertebra",
+ "renal/urinary system phenotype",
+ "Abnormality of the upper urinary tract",
+ "radius endochondral element",
+ "skin of face morphology phenotype",
+ "Abnormal renal morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal cardiovascular system morphology",
+ "Abnormal ocular adnexa morphology",
+ "cavitated compound organ phenotype",
+ "Abnormal localization of kidney",
+ "Ocular anterior segment dysgenesis",
+ "Abnormal anus morphology",
+ "compound organ phenotype",
+ "decreased functionality of the reproductive organ",
+ "Abnormality of the female genitalia",
+ "cardiac ventricle morphology phenotype",
+ "renal system morphology phenotype",
+ "male reproductive system morphology phenotype",
+ "orbital region phenotype",
+ "Abnormality of the kidney",
+ "neural tube closure phenotype",
+ "kidney",
+ "mouth",
+ "Aplasia/Hypoplasia of the iris",
+ "midface morphology phenotype",
+ "oral cavity morphology phenotype",
+ "morphological feature phenotype",
+ "myocardium morphology phenotype",
+ "incomplete closing of the anatomical structure",
+ "Abnormal oral cavity morphology",
+ "roof of mouth morphology phenotype",
+ "anatomical cavity",
+ "Abnormal aortic valve morphology",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "midface",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "soft palate",
+ "soft palate morphology phenotype",
+ "Abnormal soft palate morphology",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "malformed anatomical entity",
+ "subdivision of organism along main body axis",
+ "formed anterior chamber of eyeball",
+ "Abnormal hip joint morphology",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "fused digit and digit",
+ "decreased length of organ",
+ "formed multicellular anatomical structure",
+ "iris phenotype",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "formed anatomical structure",
+ "formed material anatomical entity",
+ "decreased length of mesoderm-derived structure",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "palatine uvula phenotype",
+ "Joint dislocation",
+ "Abnormal uvea morphology",
+ "Abnormality iris morphology",
+ "circulatory organ",
+ "uvea",
+ "anatomical collection",
+ "Macule",
+ "increased biological_process in skin of body",
+ "posterior nasal aperture atresia",
+ "cerebral hemisphere morphology phenotype",
+ "Hypospadias",
+ "fused manual digit and anatomical entity",
+ "decreased size of the multicellular anatomical structure",
+ "musculature",
+ "Localized skin lesion",
+ "Abnormal 5th finger morphology",
+ "Abnormal thumb morphology",
+ "aplasia or hypoplasia of ulna",
+ "Abnormal size of the palpebral fissures",
+ "autopod region phenotype",
+ "Finger clinodactyly",
+ "anatomical entity morphology in the manus phenotype",
+ "manual digit",
+ "skeleton phenotype",
+ "manus morphology phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "Abnormality of the hand",
+ "bone of hip region",
+ "external ear morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "amniotic fluid",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "neural crest-derived structure phenotype",
+ "manual digit morphology in the manus phenotype",
+ "decreased pigmentation in skin of body",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia involving the skeleton",
+ "fused digit and anatomical entity",
+ "anatomical entity mass density phenotype",
+ "pelvic girdle bone/zone",
+ "eye movement phenotype",
+ "respiratory system phenotype",
+ "Abnormality of bone mineral density",
+ "brain ventricle/choroid plexus phenotype",
+ "bone element mass density phenotype",
+ "biogenic amine secreting cell",
+ "ossification",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "deviation of anatomical entity",
+ "digit 1 or 5",
+ "cranial nerve related reflex",
+ "manual digit 5 morphology phenotype",
+ "manual digit 5",
+ "spatial pattern of anatomical entity phenotype",
+ "digit 1 or 5 phenotype",
+ "digit 5 plus metapodial segment",
+ "digestive system",
+ "decreased length of endochondral bone",
+ "Deviation of the hand or of fingers of the hand",
+ "appendicular skeletal system",
+ "deviation of manual digit 5",
+ "deviation of manual digit",
+ "decreased functionality of the organ part",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "ulna phenotype",
+ "increased height of the secondary palate",
+ "Tetralogy of Fallot",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "genitourinary system",
+ "Limb undergrowth",
+ "decreased size of the forelimb endochondral element",
+ "cardiac ventricle morphology in the heart phenotype",
+ "decreased size of the anatomical entity",
+ "Upper limb undergrowth",
+ "decreased length of material anatomical entity",
+ "decreased length of skeletal element",
+ "decreased size of the long bone",
+ "decreased size of the material anatomical entity",
+ "decreased size of the endochondral bone",
+ "Hematological neoplasm",
+ "decreased size of the organ",
+ "ulna hypoplasia",
+ "head bone phenotype",
+ "decreased size of the bone of pectoral complex",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "decreased size of the bone of free limb or fin",
+ "increased response to external stimulus",
+ "forelimb zeugopod bone hypoplasia",
+ "forelimb long bone phenotype",
+ "paired limb/fin skeleton",
+ "respiratory system physiology phenotype",
+ "Abnormal nervous system physiology",
+ "Hypoplasia of the ulna",
+ "decreased size of the bone element",
+ "Short forearm",
+ "decreased length of limb endochondral element",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased size of the bone of appendage girdle complex",
+ "increased length of the zone of skin",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Cardiomyopathy",
+ "flat bone",
+ "pelvic region element",
+ "Hyperpigmentation of the skin",
+ "limb joint",
+ "anatomical conduit atresia",
+ "joint of girdle",
+ "manus phenotype",
+ "hindlimb joint phenotype",
+ "zone of bone organ",
+ "skeletal joint",
+ "articulation phenotype",
+ "Micrognathia",
+ "anatomical entity dislocation",
+ "skeletal joint dislocation"
+ ],
+ "has_phenotype_count": 106,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:1011502",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, cattle",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Fanconi syndrome that occurs in cattle.",
+ "xref": ["OMIA:000366-9913"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": null,
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0001083",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
+ "xref": [
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
+ "adult Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0009217",
+ "category": "biolink:Disease",
+ "name": "Fanconi-like syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
+ "xref": [
+ "DOID:0090066",
+ "MEDGEN:56237",
+ "MESH:C536855",
+ "OMIM:227850",
+ "SCTID:236469003",
+ "UMLS:C0151638"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": ["Fanconi-like syndrome"],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0005939",
+ "HP:0002754",
+ "HP:0001876",
+ "HP:0002783",
+ "HP:0007606"
+ ],
+ "has_phenotype_label": [
+ "Multiple bilateral pneumothoraces",
+ "Osteomyelitis",
+ "Pancytopenia",
+ "Recurrent lower respiratory tract infections",
+ "Multiple cutaneous malignancies"
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:3000003",
+ "HP:0001574",
+ "UBERON:0004121",
+ "HP:0011793",
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+ "UPHENO:0086172",
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- "UPHENO:0026098",
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- "UBERON:0011216",
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- "UPHENO:0002643",
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- "UBERON:0004088",
- "UPHENO:0071310",
- "HP:0011282",
- "UPHENO:0071317",
- "UPHENO:0076810",
- "UPHENO:0063565",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0046684",
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+ "UPHENO:0087123",
+ "HP:0011842",
+ "UPHENO:0063794",
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+ "UBERON:0002193",
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+ "UPHENO:0011536",
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+ "UBERON:0003103",
+ "UPHENO:0076692",
+ "CL:0000081",
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- "UPHENO:0002600",
- "UPHENO:0009337",
- "HP:0001507",
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+ "UBERON:0004119",
+ "BFO:0000001",
+ "HP:0008069",
+ "UBERON:0001474",
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+ "UBERON:0000061",
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+ "UBERON:0000468",
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+ "UBERON:0015203",
+ "UBERON:0011676",
+ "UBERON:0000072",
+ "UPHENO:0002267",
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- "UPHENO:0002308",
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- "UPHENO:0081598",
- "UPHENO:0069335",
- "HP:0012130",
- "HP:0000924",
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+ "HP:0002795",
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+ "UBERON:0000077",
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+ "UBERON:0015212",
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+ "UBERON:0000064",
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+ "HP:0011843",
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+ "UBERON:0001434",
+ "UBERON:0002204",
+ "UBERON:0002390",
+ "GO:0006954"
+ ],
+ "has_phenotype_closure_label": [
+ "Multiple cutaneous malignancies",
+ "Neoplasm of the skin",
+ "integument phenotype",
+ "Neoplasm",
+ "skin of body phenotype",
+ "Neoplasm by anatomical site",
+ "Respiratory tract infection",
+ "Recurrent lower respiratory tract infections",
+ "Recurrent infections",
+ "Unusual infection",
+ "Abnormal immune system morphology",
+ "Abnormal platelet morphology",
+ "decreased number of hematopoietic cell",
+ "decreased number of cell",
+ "leukocyte",
+ "Pancytopenia",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal bone marrow cell morphology",
+ "number of platelet phenotype",
+ "number of myeloid cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormal myeloid cell morphology",
+ "secretory cell",
+ "Abnormal leukocyte count",
+ "cell phenotype",
+ "skeletal element",
+ "blood cell phenotype",
+ "cell",
+ "decreased number of anatomical structure",
+ "integumental system",
+ "immune system morphology phenotype",
+ "Abnormal skeletal morphology",
+ "number of hematopoietic cell phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "bone marrow cell",
+ "Abnormal cellular immune system morphology",
+ "erythrocyte",
+ "ectoderm-derived structure phenotype",
+ "hematopoietic system phenotype",
+ "platelet",
+ "Abnormal cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "serotonin secreting cell",
+ "hematopoietic cell",
+ "number of cell phenotype",
+ "bone marrow",
+ "decreased number of material anatomical entity",
+ "hemolymphoid system",
+ "bone cell",
+ "integument",
+ "eukaryotic cell",
+ "nucleate cell",
+ "anucleate cell",
+ "increased defense response in bone element",
+ "Abnormality of the respiratory system",
+ "oxygen accumulating cell",
+ "material anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "Abnormal respiratory system physiology",
+ "organism",
+ "Abnormality of thrombocytes",
+ "organ",
+ "anatomical system",
+ "tissue",
+ "continuant",
+ "thoracic segment of trunk",
+ "anatomical entity morphology phenotype",
+ "Abnormality of the integument",
+ "protein-containing material entity",
+ "multicellular organism",
+ "anatomical entity physiology phenotype",
+ "skin of body",
+ "skeletal system",
+ "Metazoa",
+ "trunk region element",
+ "blood cell",
+ "respiration organ",
+ "body proper",
+ "tube",
+ "Pneumothorax",
+ "increased response to stress in bone element",
+ "mesoderm-derived structure",
+ "decreased number of platelet",
+ "phenotypic effect",
+ "anatomical system physiology phenotype",
+ "neoplasm phenotype",
+ "Increased inflammatory response",
+ "decreased number of myeloid cell",
+ "thoracic cavity element",
+ "respiratory system morphology phenotype",
+ "anatomical entity",
+ "lateral structure",
+ "hematopoietic system",
+ "Abnormality of the skeletal system",
+ "cellular organisms",
+ "Opisthokonta",
+ "mixed endoderm/mesoderm-derived structure",
+ "ectoderm-derived structure",
+ "proximo-distal subdivision of respiratory tract",
+ "entity",
+ "disconnected anatomical group",
+ "Abnormal platelet count",
+ "material anatomical entity",
+ "compound organ",
+ "increased inflammatory response in bone element",
+ "organ phenotype",
+ "pleura morphology phenotype",
+ "pleural sac",
+ "increased qualitatively biological_process",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "anatomical entity phenotype",
+ "anatomical structure physiology phenotype",
+ "Eukaryota",
+ "Abnormality of the musculoskeletal system",
+ "serous membrane",
+ "multicellular organism morphology phenotype",
+ "respiratory system phenotype",
+ "material entity",
+ "multi-tissue structure",
+ "Abnormality of the immune system",
+ "phenotype",
+ "Abnormal pleura morphology",
+ "musculoskeletal system",
+ "quality",
+ "endoderm-derived structure",
+ "multicellular anatomical structure phenotype",
+ "defense response",
+ "Eumetazoa",
+ "material anatomical entity physiology phenotype",
+ "Multiple bilateral pneumothoraces",
+ "Recurrent respiratory infections",
+ "respiratory system",
+ "response to stress phenotype",
+ "subdivision of trunk",
+ "Abnormal respiratory system morphology",
+ "organ part",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "leukocyte morphology phenotype",
+ "serous sac",
+ "erythroid lineage cell",
+ "multicellular anatomical structure",
+ "taxon specific phenotype",
+ "anatomical collection",
+ "biological_process rate phenotype",
+ "thoracic segment organ",
+ "biogenic amine secreting cell",
+ "Abnormal musculoskeletal physiology",
+ "decreased number of anatomical entity",
+ "viscus",
+ "anatomical structure",
+ "musculoskeletal system phenotype",
+ "anatomical conduit",
+ "musculature",
+ "increased qualitatively response to stimulus",
+ "Thrombocytopenia",
+ "Abnormality of immune system physiology",
+ "trunk",
+ "myeloid cell",
+ "root",
+ "immune system",
+ "response to stress",
+ "organ system subdivision",
+ "All",
+ "Abnormal lung morphology",
+ "motile cell",
+ "independent continuant",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "respiratory tract",
+ "organism subdivision",
+ "main body axis",
+ "biological_process phenotype",
+ "anatomical structure phenotype",
+ "defense response phenotype",
+ "respiratory airway",
+ "lower respiratory tract",
+ "anatomical wall",
+ "subdivision of tube",
+ "non-connected functional system",
+ "increased qualitatively inflammatory response",
+ "respiratory system physiology phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "lung",
+ "increased inflammatory response",
+ "Abnormal inflammatory response",
+ "specifically dependent continuant",
+ "inflammatory response",
+ "increased response to stimulus in bone element",
+ "Osteomyelitis",
+ "biological_process",
+ "increased biological_process in bone element",
+ "skeletal system phenotype",
+ "inflammatory response phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "Abnormal leukocyte morphology",
+ "response to stimulus",
+ "platelet phenotype",
+ "increased response to stimulus",
+ "immune system physiology phenotype",
+ "occurrent",
+ "pleura",
+ "process",
+ "Abnormality of the skin",
+ "musculature of body",
+ "organ system subdivision phenotype",
+ "response to stimulus phenotype",
+ "increased biological_process",
+ "immune system phenotype",
+ "pair of lungs",
+ "musculoskeletal system physiology phenotype"
+ ],
+ "has_phenotype_count": 5,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0060779",
+ "category": "biolink:Disease",
+ "name": "acquired Fanconi syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Fanconi Syndrome caused by exposure to noxious agents.",
+ "xref": [
+ "MEDGEN:90966",
+ "NCIT:C78296",
+ "SCTID:236467001",
+ "UMLS:C0341702"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": ["acquired Fanconi syndrome"],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0060778",
+ "category": "biolink:Disease",
+ "name": "adult Fanconi syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
+ "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": ["HP:0003581"],
+ "has_phenotype_label": null,
+ "has_phenotype_closure": ["HP:0003581"],
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 1,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:1011504",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, horse",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Fanconi syndrome that occurs in horse.",
+ "xref": ["OMIA:000366-9796"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": null,
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0007600",
+ "category": "biolink:Disease",
+ "name": "primary Fanconi syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.",
+ "xref": [
+ "GARD:9118",
+ "MEDGEN:341765",
+ "NCIT:C123229",
+ "Orphanet:3337",
+ "UMLS:C1857395"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FRTS1",
+ "Fanconi renotubular syndrome 1",
+ "primary Fanconi renotubular syndrome"
+ ],
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+ "iri": null,
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+ "Osteomalacia",
+ "Renal phosphate wasting",
+ "Stage 5 chronic kidney disease",
+ "Hyperchloremic metabolic acidosis",
+ "Pulmonary fibrosis",
+ "Hypoglycemia",
+ "Hypercalciuria",
+ "Dehydration",
+ "Chronic kidney disease",
+ "Renal sodium wasting",
+ "Hypophosphatemic rickets",
+ "Hypouricemia",
+ "Decreased circulating carnitine concentration",
+ "Increased urinary potassium",
+ "Hypokalemia",
+ "Increased susceptibility to fractures",
+ "Bone pain",
+ "Hypophosphatemia",
+ "Weight loss",
+ "Muscle weakness",
+ "Abnormal urine pH",
+ "Bicarbonate-wasting renal tubular acidosis",
+ "Bicarbonaturia",
+ "Hyperuricosuria",
+ "Low-molecular-weight proteinuria",
+ "Glycosuria",
+ "Generalized aminoaciduria",
+ "Proximal renal tubular acidosis",
+ "Growth delay"
+ ],
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+ "CHEBI:33318",
+ "HP:0003111"
+ ],
+ "has_phenotype_closure_label": [
+ "Growth delay",
+ "delayed growth",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "amino acid",
+ "urine amino acid level phenotype",
+ "urine glucose level phenotype",
+ "macromolecule",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "organic amino compound",
+ "urine uric acid level phenotype",
+ "increased level of purines",
+ "Hyperuricosuria",
+ "urine hydrogencarbonate level phenotype",
+ "Abnormality of urine bicarbonate level",
+ "hydrogencarbonate level phenotype",
+ "increased level of hydrogencarbonate in urine",
+ "hydrogencarbonate",
+ "decreased functionality of the nephron epithelium",
+ "tissue physiology phenotype",
+ "increased level of uric acid in urine",
+ "nephron tubule phenotype",
+ "decreased functionality of the nephron tubule",
+ "decreased functionality of the epithelium",
+ "nephron",
+ "excretory tube",
+ "decreased functionality of the anatomical structure",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "decreased functionality of the tissue",
+ "decreased functionality of the renal tubule",
+ "Renal tubular acidosis",
+ "Renal tubular dysfunction",
+ "tube phenotype",
+ "decreased functionality of the tube",
+ "epithelium",
+ "decreased functionality of the material anatomical entity",
+ "renal tubule",
+ "decreased functionality of the multicellular anatomical structure",
+ "epithelial tube phenotype",
+ "uriniferous tubule",
+ "nephron epithelium",
+ "renal tubule phenotype",
+ "muscle structure phenotype",
+ "decreased anatomical entity strength",
+ "multicellular organism mass phenotype",
+ "multicellular anatomical structure mass phenotype",
+ "Weight loss",
+ "anatomical entity mass phenotype",
+ "Decreased body weight",
+ "decreased anatomical structure mass",
+ "multicellular organism phenotype",
+ "Abnormality of body weight",
+ "Decreased multicellular organism mass",
+ "tube physiology phenotype",
+ "Constitutional symptom",
+ "Pain",
+ "anatomical entity dysfunction in independent continuant",
+ "Abnormal musculoskeletal physiology",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "monovalent inorganic cation",
+ "Abnormal blood cation concentration",
+ "inorganic molecular entity",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
+ "urine potassium atom level phenotype",
+ "s-block molecular entity",
+ "intracellular organelle",
+ "membrane-bounded organelle",
+ "cellular_component phenotype",
+ "Abnormality of the mitochondrion",
+ "musculoskeletal system phenotype",
+ "Abnormal circulating fatty-acid concentration",
+ "blood monocarboxylic acid level phenotype",
+ "nephron tubule",
+ "hydrogen molecular entity",
+ "hydroxides",
+ "oxide",
+ "intracellular membrane-bounded organelle",
+ "Abnormal circulating carnitine concentration",
+ "muscle organ",
+ "Increased urinary potassium",
+ "dipolar compound",
+ "oxoanion",
+ "muscle organ physiology phenotype",
+ "Abnormal cellular phenotype",
+ "amino acid derivative level phenotype",
+ "Abnormal circulating carboxylic acid concentration",
+ "increased level of organic acid in urine",
+ "amino-acid betaine",
+ "monocarboxylic acid",
+ "cell",
+ "Abnormal blood potassium concentration",
+ "carbon oxoacid",
+ "monocarboxylic acid anion",
+ "carbonyl compound",
+ "zwitterion",
+ "blood fatty acid anion level phenotype",
+ "Decreased circulating carnitine concentration",
+ "amino acid derivative",
+ "nephron epithelium phenotype",
+ "quaternary nitrogen compound",
+ "polyatomic anion",
+ "fatty acid anion",
+ "carboxylic acid",
+ "muscle structure physiology phenotype",
+ "lipid level phenotype",
+ "Abnormality of mitochondrial metabolism",
+ "molecule",
+ "cation",
+ "decreased level of purines",
+ "blood nitrogen molecular entity level phenotype",
+ "increased level of chemical entity in blood",
+ "blood nucleobase level phenotype",
+ "Azotemia",
+ "cyclic compound",
+ "organic molecule",
+ "polycyclic compound",
+ "nitrogen molecular entity",
+ "aromatic compound",
+ "Abnormal circulating nitrogen compound concentration",
+ "blood uric acid level phenotype",
+ "decreased level of uric acid in blood",
+ "imidazopyrimidine",
+ "growth",
+ "heteropolycyclic compound",
+ "heterobicyclic compound",
+ "organic heterocyclic compound",
+ "increased level of nitrogen molecular entity in blood",
+ "decreased functionality of the excretory tube",
+ "organonitrogen heterocyclic compound",
+ "Hypouricemia",
+ "increased level of chemical entity in bodily fluid",
+ "monoatomic entity",
+ "monoatomic ion",
+ "decreased level of chemical entity in blood",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "Hypophosphatemic rickets",
+ "Abnormal urine carboxylic acid level",
+ "decreased level of chemical entity",
+ "ion",
+ "cavitated compound organ",
+ "skeletal element",
+ "Abnormal circulating lipid concentration",
+ "Phenotypic abnormality",
+ "organic heteropolycyclic compound",
+ "blood organic molecular entity level phenotype",
+ "trunk region element phenotype",
+ "mitochondrion phenotype",
+ "abdominal segment of trunk",
+ "trunk region element",
+ "amide",
+ "chemical entity level phenotype",
+ "decreased functionality of the anatomical conduit",
+ "Chronic kidney disease",
+ "muscle structure",
+ "lipid",
+ "material anatomical entity",
+ "Hypoglycemia",
+ "Abnormality of the kidney",
+ "cavitated compound organ physiology phenotype",
+ "organic molecular entity",
+ "abdomen element",
+ "abdominal segment element physiology phenotype",
+ "Abnormality of urinary uric acid level",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "main body axis",
+ "decreased level of carnitine in blood",
+ "Renal sodium wasting",
+ "intracellular anatomical structure",
+ "heteroatomic molecular entity",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "amino-acid betaine level phenotype",
+ "excretory system",
+ "abdomen element phenotype",
+ "p-block molecular entity",
+ "excretory tube physiology phenotype",
+ "homeostatic process",
+ "material anatomical entity mass phenotype",
+ "Abnormal respiratory system physiology",
+ "Abnormal muscle physiology",
+ "Increased susceptibility to fractures",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "renal system physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "decreased level of amino-acid betaine",
+ "multicellular organism morphology phenotype",
+ "trunk",
+ "chemical entity",
+ "phosphorus molecular entity",
+ "organic oxo compound",
+ "excreta",
+ "carboxylic acid anion",
+ "multicellular anatomical structure physiology phenotype",
+ "genitourinary system",
+ "atom",
+ "regulation of body fluid levels",
+ "Abnormality of the urinary system physiology",
+ "Abnormality of the respiratory system",
+ "respiration organ phenotype",
+ "uric acid",
+ "metal atom",
+ "organism substance",
+ "trunk region element physiology phenotype",
+ "homeostatic process phenotype",
+ "viscus",
+ "main group molecular entity",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "polyatomic entity",
+ "Abnormal blood ion concentration",
+ "taxon specific phenotype",
+ "aldohexose",
+ "tissue",
+ "anatomical system physiology phenotype",
+ "Bone pain",
+ "Abnormality of the upper urinary tract",
+ "phosphate level phenotype",
+ "Proteinuria",
+ "protein-containing material entity",
+ "thoracic segment organ phenotype",
+ "phosphate",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "musculoskeletal system physiology phenotype",
+ "Abnormal skeletal morphology",
+ "alkaline earth metal atom",
+ "skeletal system phenotype",
+ "protein polypeptide chain",
+ "Abnormal circulating nucleobase concentration",
+ "continuant",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "decreased role blood level",
+ "musculature",
+ "polypeptide",
+ "organic ion",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "musculature of body",
+ "organic cyclic compound",
+ "Hyperchloremic acidosis",
+ "Abnormal bone structure",
+ "entity",
+ "Decreased anatomical entity mass density",
+ "main group element atom",
+ "Abnormality of the musculoskeletal system",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "Hypokalemia",
+ "mitochondrion",
+ "anatomical structure phenotype",
+ "urine organic anion level phenotype",
+ "Abnormality of the genitourinary system",
+ "phosphoric acid derivative",
+ "quality",
+ "Reduced bone mineral density",
+ "Renal insufficiency",
+ "anatomical entity fibrosis",
+ "Abnormality of metabolism/homeostasis",
+ "polyatomic ion",
+ "Dehydration",
+ "heteroarene",
+ "anatomical system phenotype",
+ "kidney epithelium",
+ "obsolete cell",
+ "Abnormal blood phosphate concentration",
+ "compound organ",
+ "phosphorus oxoacids and derivatives",
+ "anion",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "lateral structure",
+ "purines",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "bone element",
+ "abdomen element physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "organonitrogen compound",
+ "anatomical entity phenotype",
+ "mesoderm-derived structure phenotype",
+ "increased level of calcium atom in urine",
+ "chemical homeostasis",
+ "organic anion",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "nucleobase",
+ "Abnormal urine phosphate concentration",
+ "Generalized aminoaciduria",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "heterocyclic compound",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "cavitated compound organ phenotype",
+ "cellular anatomical entity",
+ "blood carboxylic acid level phenotype",
+ "Renal phosphate wasting",
+ "Glycosuria",
+ "abdominal segment element",
+ "Abnormal bone ossification",
+ "increased level of potassium atom in urine",
+ "blood",
+ "kidney physiology phenotype",
+ "multicellular organismal process",
+ "Muscle weakness",
+ "organ part",
+ "multicellular anatomical structure",
+ "lung morphology phenotype",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "Decreased bone element mass density",
+ "decreased functionality of the epithelial tube",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "acid bodily fluid level phenotype",
+ "carbohydrate",
+ "biological_process",
+ "material entity",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "oxopurine",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "independent continuant",
+ "Proximal renal tubular acidosis",
+ "abdomen",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "lung fibrosis",
+ "material anatomical entity phenotype",
+ "calcium atom level phenotype",
+ "Bicarbonate-wasting renal tubular acidosis",
+ "cell phenotype",
+ "skeletal system morphology phenotype",
+ "decreased material anatomical entity mass",
+ "subdivision of organism along main body axis",
+ "ammonium betaine",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "musculature phenotype",
+ "regulation of body fluid levels phenotype",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "subdivision of trunk",
+ "growth phenotype",
+ "blood lipid level phenotype",
+ "Abnormal respiratory system morphology",
+ "organism subdivision",
+ "epithelium phenotype",
+ "organ system subdivision phenotype",
+ "respiratory tract",
+ "organelle",
+ "upper urinary tract phenotype",
+ "Acidosis",
+ "excretory tube phenotype",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "kidney",
+ "urine sodium atom level phenotype",
+ "Abnormal circulating carbohydrate concentration",
+ "aldose",
+ "glucose",
+ "bodily fluid",
+ "thoracic cavity element phenotype",
+ "Abnormal glucose homeostasis",
+ "onium betaine",
+ "Hyperchloremic metabolic acidosis",
+ "Metabolic acidosis",
+ "organic aromatic compound",
+ "Abnormality of acid-base homeostasis",
+ "fatty acid level phenotype",
+ "tube",
+ "process",
+ "urine calcium atom level phenotype",
+ "multicellular organism",
+ "hematopoietic system",
+ "thoracic cavity element",
+ "blood carnitine level phenotype",
+ "carnitine",
+ "cytoplasm",
+ "musculoskeletal system",
+ "respiratory system morphology phenotype",
+ "decreased multicellular anatomical structure mass",
+ "fatty acid",
+ "All",
+ "anatomical collection",
+ "thoracic segment organ",
+ "lower respiratory tract",
+ "lung phenotype",
+ "endoderm-derived structure",
+ "regulation of biological quality",
+ "pair of lungs",
+ "Bicarbonaturia",
+ "respiration organ",
+ "Abnormality of the musculature",
+ "thoracic segment of trunk",
+ "carbohydrates and carbohydrate derivatives",
+ "metabolic process",
+ "endoderm-derived structure phenotype",
+ "decreased muscle organ strength",
+ "cellular_component",
+ "bicyclic compound",
+ "biological regulation phenotype",
+ "respiratory system phenotype",
+ "Pulmonary fibrosis",
+ "carbon group molecular entity",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "tissue phenotype",
+ "Abnormal circulating organic compound concentration",
+ "epithelial tube",
+ "respiratory system",
+ "anatomical system",
+ "Abnormal lung morphology",
+ "haemolymphatic fluid",
+ "Abnormal pulmonary interstitial morphology",
+ "respiratory airway",
+ "subdivision of tube",
+ "monosaccharide",
+ "glucose homeostasis",
+ "carbon oxoanion",
+ "renal system phenotype",
+ "respiratory system physiology phenotype",
+ "potassium atom level phenotype",
+ "viscus phenotype",
+ "Rickets",
+ "hemolymphoid system",
+ "chemical homeostasis phenotype",
+ "carbohydrate homeostasis",
+ "blood carbohydrate level phenotype",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
+ "Abnormal circulating fatty-acid anion concentration",
+ "hematopoietic system phenotype",
+ "kidney phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "decreased functionality of the anatomical entity",
+ "lateral structure phenotype",
+ "role blood level phenotype",
+ "sodium atom",
+ "heteroorganic entity",
+ "organooxygen compound",
+ "Abnormal urinary electrolyte concentration",
+ "Stage 5 chronic kidney disease",
+ "mesoderm-derived structure",
+ "organic heterobicyclic compound",
+ "glucose homeostasis phenotype",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "Abnormality of the skeletal system",
+ "lung",
+ "Abnormality of fluid regulation",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "role bodily fluid level phenotype",
+ "hexose",
+ "epithelium physiology phenotype",
+ "blood glucose level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal blood glucose concentration",
+ "Abnormal circulating monocarboxylic acid concentration",
+ "Hypophosphatemia",
+ "role urine level phenotype",
+ "Decreased anatomical entity mass",
+ "s-block element atom",
+ "Hypercalciuria",
+ "inorganic cation",
+ "Abnormal cellular physiology",
+ "increased level of chemical entity",
+ "increased urine role level",
+ "decreased functionality of the kidney epithelium",
+ "calcium atom",
+ "Abnormality of urine calcium concentration",
+ "anatomical structure mass phenotype",
+ "increased level of chemical entity in urine",
+ "proximo-distal subdivision of respiratory tract",
+ "biological regulation",
+ "Abnormal urinary organic compound level",
+ "blood fatty acid level phenotype",
+ "regulation of biological quality phenotype",
+ "multicellular anatomical structure phenotype",
+ "Abnormal urine sodium concentration",
+ "sodium atom level phenotype",
+ "Abnormal urine potassium concentration",
+ "bone element mass density phenotype",
+ "carbohydrate homeostasis phenotype",
+ "alkali metal atom",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "blood phosphate level phenotype",
+ "primary amide",
+ "elemental molecular entity"
+ ],
+ "has_phenotype_count": 29,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:1011503",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, dog",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Fanconi syndrome that occurs in dog.",
+ "xref": ["OMIA:000366-9615"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": null,
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
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+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0030056",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 5",
+ "full_name": null,
+ "deprecated": null,
+ "description": null,
+ "xref": [
+ "DOID:0080761",
+ "GARD:16392",
+ "MEDGEN:1711127",
+ "OMIM:618913",
+ "UMLS:C5394473"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FANCONI RENOTUBULAR SYNDROME 5",
+ "FRTS5",
+ "Fanconi Renotubular Syndrome, Acadian Variant",
+ "Fanconi renotubular syndrome 5"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
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+ "Stage 5 chronic kidney disease",
+ "Hyperchloremic metabolic acidosis",
+ "Hypophosphatemia",
+ "Pulmonary fibrosis",
+ "Hypophosphatemic rickets",
+ "Genu valgum",
+ "Decreased DLCO",
+ "Proteinuria",
+ "Glycosuria",
+ "Emphysema",
+ "Lung adenocarcinoma",
+ "Aminoaciduria",
+ "Tubulointerstitial fibrosis",
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+ "UPHENO:0001001",
+ "UPHENO:3000004",
+ "UPHENO:0002427",
+ "HP:0003111",
+ "CHEBI:24431",
+ "UPHENO:0002246",
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+ "UPHENO:0004536",
+ "HP:0006487",
+ "HP:0012575",
+ "UPHENO:0002360",
+ "UBERON:0000026",
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- "UPHENO:0025882",
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+ "UBERON:0001285",
+ "UBERON:0013701",
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+ "UPHENO:0002976",
+ "CHEBI:37577",
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+ "UPHENO:0002643",
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+ "UPHENO:0076740",
+ "UPHENO:0076294",
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- "UBERON:0036295",
- "UPHENO:0002827",
- "UPHENO:0046455",
+ "UBERON:0011676",
+ "UBERON:0000072",
+ "UBERON:0000061",
+ "UBERON:0005177",
+ "UBERON:0005173",
+ "UPHENO:0031302",
+ "CHEBI:23367",
+ "UBERON:0003657",
+ "UPHENO:0002308",
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+ "UBERON:0001005",
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+ "UPHENO:0031271",
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+ "CHEBI:26082",
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+ "UBERON:0005181",
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+ "HP:0032180",
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+ "UBERON:0000170",
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+ "HP:0002981",
+ "UPHENO:0002411",
+ "UPHENO:0003084",
+ "UBERON:0004905",
+ "PATO:0000001",
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+ "UBERON:0001062",
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+ "UBERON:0010363",
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+ "UPHENO:0002536",
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+ "UBERON:0010712",
+ "UBERON:0002048",
+ "UBERON:0001558",
+ "UBERON:0000475",
+ "UPHENO:0087433",
+ "HP:0002206",
+ "UBERON:0001004",
+ "UPHENO:0086908",
+ "UBERON:0002204",
+ "UPHENO:0002754",
+ "HP:0012252",
+ "HP:0003076",
+ "UBERON:0013522",
+ "UBERON:0010538",
+ "UBERON:0000174",
+ "HP:0000924",
+ "HP:0003330",
+ "UPHENO:0041610",
+ "HP:0004348",
+ "UPHENO:0076703",
"UBERON:0011143",
- "UBERON:0000075",
- "HP:0000252",
- "UPHENO:0004704",
- "UPHENO:0081566",
- "UBERON:0000948",
- "UPHENO:0002901",
- "HP:0000356",
- "HP:0003974",
- "UPHENO:0002865"
- ],
- "has_phenotype_closure_label": [
- "number of anatomical enitites of type tissue phenotype",
- "tissue phenotype",
- "gray matter of forebrain",
- "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
- "cell layer phenotype",
- "absent septum pellucidum",
- "gray matter",
- "septum pellucidum phenotype",
- "absent anatomical structure in the brain ventricle/choroid plexus",
- "gray matter phenotype",
- "gray matter of telencephalon",
- "number of anatomical enitites of type lamina phenotype",
- "septum pellucidum",
- "absent material anatomical entity in the brain ventricle",
- "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
- "absent multicellular anatomical structure in the brain",
- "absent cell layer",
- "brain gray matter phenotype",
- "cell layer",
- "absent anatomical entity in the brain ventricle",
- "Abnormal septum pellucidum morphology",
- "absent multicellular anatomical structure in the brain ventricle",
- "decreased anatomical structure mass",
- "material anatomical entity mass phenotype",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "multicellular organism mass phenotype",
- "Decreased anatomical entity mass",
- "cornea phenotype",
- "neural crest-derived structure",
- "tunica fibrosa of eyeball",
- "ectoderm-derived structure, curved phenotype",
- "asymmetrically curved cornea",
- "Abnormal cornea morphology",
- "curved anatomical entity",
- "anatomical structure, asymmetrically curved phenotype",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "curvature anatomical entity",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "Abnormality of the curvature of the cornea",
- "Astigmatism",
- "cornea",
- "anterior segment of eyeball morphology phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Renal hypoplasia",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "brain white matter phenotype",
- "axon tract phenotype",
- "corpus callosum morphology phenotype",
- "intercerebral commissure phenotype",
- "absent corpus callosum",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "cerebral hemisphere",
- "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
- "Thin corpus callosum",
- "number of anatomical enitites of type commissure of telencephalon phenotype",
- "absent axon tract",
- "absent commissure of telencephalon",
- "number of anatomical enitites of type central nervous system cell part cluster phenotype",
- "nervous system commissure phenotype",
- "multicellular anatomical structure, curved phenotype",
- "absent anatomical entity in the brain",
- "cerebral hemisphere white matter phenotype",
- "number of anatomical enitites of type nervous system commissure phenotype",
- "number of anatomical enitites of type multi cell part structure phenotype",
- "absent tissue",
- "brain commissure morphology phenotype",
- "brain commissure",
- "number of anatomical enitites of type tract of brain phenotype",
- "absent intercerebral commissure",
- "Agenesis of corpus callosum",
- "white matter",
- "absent tract of brain",
- "intercerebral commissure",
- "dorsal telencephalic commissure",
- "Aplasia/Hypoplasia of the corpus callosum",
- "white matter phenotype",
- "cerebral subcortex",
- "absent anatomical structure in the brain",
- "absent anatomical entity in the nervous system",
- "aplasia or hypoplasia of corpus callosum",
- "absent central nervous system cell part cluster",
- "dorsal telencephalic commissure morphology phenotype",
- "tract of brain phenotype",
- "brain white matter",
- "tract of brain",
- "number of anatomical enitites of type corpus callosum phenotype",
- "brain commissure phenotype",
- "Aplasia/Hypoplasia of the cerebral white matter",
- "shape of continuant phenotype",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "brain gray matter",
- "Horseshoe kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "reproductive system morphology phenotype",
- "reproductive system phenotype",
- "Abnormal size of pituitary gland",
- "gland of diencephalon phenotype",
- "diencephalon phenotype",
- "decreased size of the reproductive gland",
- "hypothalamus-pituitary axis phenotype",
- "reproductive structure phenotype",
- "decreased size of the structure with developmental contribution from neural crest",
- "decreased size of the reproductive organ",
- "decreased size of the endocrine gland",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "Abnormal pituitary gland morphology",
- "pituitary gland phenotype",
- "reproductive organ",
- "size of pituitary gland phenotype",
- "reproductive gland morphology phenotype",
- "diencephalon morphology phenotype",
- "reproductive organ phenotype",
- "hypothalamus-pituitary axis",
- "Abnormality of the kidney",
+ "UPHENO:0002816",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "UBERON:0001434",
+ "HP:0001941",
+ "UPHENO:0051804",
+ "HP:0004912",
+ "UPHENO:0002832",
+ "UPHENO:0002803",
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+ "UBERON:0004708",
+ "HP:0011849",
+ "UBERON:0034921",
+ "HP:0011842",
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+ "UPHENO:0051635",
+ "UPHENO:0003095",
+ "UBERON:0000383",
+ "UPHENO:0082835",
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+ "UPHENO:0003015",
+ "UPHENO:0004507",
+ "UBERON:0002113",
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+ "UPHENO:0076727",
+ "UPHENO:0002632",
+ "UBERON:0002103",
+ "UPHENO:0080658",
+ "UBERON:0002495",
+ "UPHENO:0002785",
+ "HP:0000079",
+ "UBERON:0002513",
+ "UPHENO:0002634",
+ "UBERON:0002529",
+ "UPHENO:0041536",
+ "UPHENO:0041098",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "CHEBI:35605",
+ "UPHENO:0041591",
+ "UBERON:0002091",
+ "UBERON:0006555",
+ "UPHENO:0086780",
+ "UPHENO:0086956",
+ "UBERON:0010709",
+ "UBERON:0000483",
+ "UPHENO:0002944",
+ "HP:0002979",
+ "UBERON:0002471",
+ "HP:0030878",
+ "UPHENO:0041573",
+ "HP:0040068",
+ "UPHENO:0075952",
+ "UPHENO:0002945",
+ "UPHENO:0031318",
+ "UBERON:0011582",
+ "UPHENO:0002568",
+ "UBERON:0015061",
+ "UPHENO:0041258",
+ "UBERON:0001465",
+ "HP:0001995",
+ "UBERON:0003823",
+ "HP:6000531",
+ "UPHENO:0003066",
+ "UPHENO:0088582",
+ "UBERON:0000982",
+ "HP:0011314",
+ "HP:0040156",
+ "UBERON:0000463",
+ "CHEBI:26020",
+ "HP:0002857"
+ ],
+ "has_phenotype_closure_label": [
+ "Abnormality of the vasculature",
+ "Abnormal systemic blood pressure",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "Hypertension",
+ "disconnected anatomical group",
+ "cardiovascular system",
+ "cardiovascular system physiology phenotype",
+ "kidney morphology phenotype",
+ "excretory tube",
+ "Renal fibrosis",
+ "Abnormal renal insterstitial morphology",
+ "kidney epithelium morphology phenotype",
+ "Abnormal renal morphology",
+ "Abnormal nephron morphology",
+ "nephron morphology phenotype",
+ "Increased blood pressure",
+ "Tubulointerstitial fibrosis",
+ "renal tubule",
+ "uriniferous tubule",
+ "nephron epithelium",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "oxoacid",
+ "increased level of organic acid in urine",
"renal system morphology phenotype",
- "kidney phenotype",
+ "amino acid",
+ "increased level of carboxylic acid in urine",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Neoplasm",
+ "Neoplasm of the respiratory system",
+ "neoplasm phenotype",
+ "pathological process",
+ "Emphysema",
+ "tissue specific degenerative process",
+ "blood vasculature",
+ "pathological phenotype observation",
+ "Lung adenocarcinoma",
+ "increased level of monosaccharide in urine",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "macromolecule",
+ "vascular system",
+ "increased level of chemical entity in urine",
+ "carbon group molecular entity",
+ "organic molecular entity",
+ "nitrogen molecular entity",
+ "peptide",
+ "organic oxo compound",
+ "excreta",
+ "organooxygen compound",
+ "heteroorganic entity",
+ "Abnormal urine protein level",
+ "increased urine role level",
+ "increased level of chemical entity",
+ "urine",
+ "organic amino compound",
+ "role urine level phenotype",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
+ "organism subdivision, curved phenotype",
+ "long bone phenotype",
+ "limb morphology phenotype",
+ "nephron tubule",
+ "Abnormal renal tubule morphology",
+ "hydrogen molecular entity",
+ "endochondral bone phenotype",
+ "bone of appendage girdle complex phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "aldohexose",
+ "zone of organ",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "Abnormality of limbs",
+ "organism subdivision phenotype",
+ "appendicular skeleton",
+ "limb skeleton subdivision",
+ "appendicular skeletal system",
+ "endochondral element",
+ "epithelium",
+ "system",
+ "limb endochondral element phenotype",
+ "appendage girdle complex",
+ "lower limb segment, curved phenotype",
+ "pelvic complex",
+ "multi-limb segment region phenotype",
+ "endochondral element phenotype",
+ "blood vessel",
+ "multi-limb segment region",
+ "skeletal joint phenotype",
+ "Bowing of the long bones",
+ "shape hindlimb zeugopod",
+ "decreased level of chemical entity in blood",
+ "Abnormal urine carboxylic acid level",
+ "decreased level of chemical entity",
+ "blood monoatomic ion level phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "trunk",
+ "hindlimb joint",
+ "amide",
+ "Abnormality of limb bone",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "phosphorus molecular entity",
+ "primary amide",
+ "limb bone morphology phenotype",
+ "elemental molecular entity",
+ "main group molecular entity",
+ "haemolymphatic fluid",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "homeostatic process",
+ "Abnormal respiratory system physiology",
+ "cardiovascular system phenotype",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "ion",
+ "chemical entity",
+ "Hyperchloremic metabolic acidosis",
+ "zone of long bone",
+ "mesoderm-derived structure phenotype",
+ "organonitrogen compound",
+ "appendage",
+ "anatomical entity phenotype",
+ "bone element",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "organism substance",
+ "process",
+ "homeostatic process phenotype",
+ "Abnormal knee morphology",
+ "trunk region element physiology phenotype",
+ "viscus",
+ "articulation",
+ "skeletal joint morphology phenotype",
+ "kidney",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "Abnormal tubulointerstitial morphology",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "Genu valgum",
+ "process of degenerative change",
+ "lower limb segment phenotype",
+ "organ phenotype",
+ "lung fibrosis",
+ "hematopoietic system phenotype",
+ "Abnormal limb bone morphology",
+ "blood chemical entity level phenotype",
+ "mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "anatomical entity morphology in the pelvic complex phenotype",
"abdomen element phenotype",
- "Abnormal renal morphology",
- "abdomen",
- "phalanx phenotype",
- "decreased size of the manus bone",
- "metacarpal bone of digit 1 morphology phenotype",
- "decreased size of the forelimb long bone",
- "decreased length of autopod endochondral element",
- "decreased length of manual digitopodium bone",
- "decreased size of the autopod endochondral element",
- "Aplasia/Hypoplasia of the phalanges of the thumb",
- "anatomical entity morphology in the skeleton of manus phenotype",
- "Aplasia/Hypoplasia of the phalanges of the hand",
+ "circulatory system",
+ "long bone morphology phenotype",
+ "excretory system",
+ "main body axis",
+ "organism subdivision",
+ "limb segment phenotype",
+ "bone of appendage girdle complex",
+ "multicellular anatomical structure phenotype",
+ "skeletal system",
+ "subdivision of trunk",
+ "monoatomic entity",
+ "Abnormality of the lower limb",
+ "paired limb/fin segment, curved phenotype",
+ "blood",
+ "subdivision of organism along main body axis",
+ "Bowing of the legs",
+ "Abnormality of the skeletal system",
+ "lung",
+ "skeletal system morphology phenotype",
+ "carbohydrate",
+ "biological_process",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "limb bone phenotype",
+ "Hypophosphatemia",
+ "articular system",
+ "material entity",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "Decreased DLCO",
+ "blood phosphate level phenotype",
+ "body proper",
+ "biological_process phenotype",
+ "abdominal segment element phenotype",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "Phenotypic abnormality",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "Renal insufficiency",
+ "hindlimb zeugopod phenotype",
+ "respiration organ phenotype",
+ "anatomical structure",
+ "hindlimb zeugopod morphology phenotype",
+ "anatomical conduit",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "phosphate level phenotype",
+ "Proteinuria",
+ "material anatomical entity, curved phenotype",
+ "protein-containing material entity",
+ "hindlimb",
+ "Abnormality of the upper urinary tract",
+ "phosphate",
+ "thoracic segment organ phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "emphysema",
+ "lateral structure phenotype",
+ "polyatomic entity",
+ "Chronic kidney disease",
+ "material anatomical entity",
+ "posterior region of body",
+ "multicellular anatomical structure",
+ "lung morphology phenotype",
+ "kidney physiology phenotype",
+ "respiratory tract",
+ "organ system subdivision phenotype",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "Abnormality of the kidney",
+ "limb segment, curved phenotype",
+ "trunk region element phenotype",
+ "lateral structure",
"abdomen element",
- "aplasia or hypoplasia of phalanx of manus",
- "decreased size of the digitopodium bone",
- "metacarpus skeleton phenotype",
- "decreased length of manual digit 1 phalanx endochondral element",
- "decreased length of manual digit bone",
- "phalanx endochondral element phenotype",
- "manus bone phenotype",
- "skeleton of digitopodium",
- "decreased length of phalanx of manus",
- "Small pituitary gland",
- "metapodium bone 1 phenotype",
- "Short metacarpal",
- "phalanx of manus phenotype",
- "Abnormal metacarpal morphology",
- "Short 1st metacarpal",
- "phalanx endochondral element",
- "manual digit phalanx endochondral element",
- "manual digit 1 digitopodial skeleton",
- "decreased length of phalanx",
- "Aplasia/Hypoplasia involving the metacarpal bones",
- "decreased length of manus bone",
- "absent anatomical structure in the brain ventricle",
- "decreased size of the phalanx endochondral element",
- "manual digit bone phenotype",
- "manual digit 1 metacarpus endochondral element phenotype",
- "manual digit phalanx endochondral element phenotype",
- "Short phalanx of the thumb",
- "Aplasia/Hypoplasia of the 1st metacarpal",
- "ocular surface region",
- "metacarpus skeleton",
- "digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "skeleton of manual acropodium",
- "skeleton of manual digitopodium",
- "metacarpal bone of digit 1 phenotype",
- "manual digit bone",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "metacarpus region",
- "metacarpal bone of digit 1",
- "manual digitopodium bone",
- "decreased size of the phalanx",
- "manual digit metacarpus endochondral element phenotype",
- "manual digit 1 phalanx endochondral element phenotype",
- "metacarpal bone",
- "metacarpal bone morphology phenotype",
- "manual digit 1 metacarpus endochondral element",
- "metapodium bone",
- "decreased length of manual digit metacarpus endochondral element",
- "decreased length of autopod bone",
- "metacarpal bone phenotype",
- "autopod bone phenotype",
- "decreased length of manual digit 1 metacarpus endochondral element",
- "phalanx morphology phenotype",
- "manual digitopodium bone phenotype",
- "manual digit 1 phalanx phenotype",
- "cardiac ventricle morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "interventricular septum",
- "cardiac ventricle",
- "Abnormal erythrocyte morphology",
- "Abnormal 1st metacarpal morphology",
- "erythroid lineage cell",
- "Irregular hyperpigmentation",
- "integumental system",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "incomplete closing of the thoracic segment blood vessel",
- "Abnormality of the integument",
- "outflow tract phenotype",
- "incomplete closing of the vessel",
- "Abnormal vascular morphology",
- "Renal hypoplasia/aplasia",
- "Abnormal morphology of the great vessels",
- "incomplete closing of the systemic artery",
+ "protein polypeptide chain",
+ "continuant",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical entity fibrosis",
+ "specifically dependent continuant",
+ "abdominal segment element physiology phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "zeugopod",
+ "skeletal element",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "zeugopod, curved phenotype",
+ "Abnormality of the urinary system physiology",
+ "Abnormality of the respiratory system",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "paired limb/fin segment phenotype",
+ "tissue",
+ "anatomical system physiology phenotype",
+ "bodily fluid",
+ "thoracic cavity element phenotype",
+ "material anatomical entity phenotype",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "independent continuant",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "Abnormal cardiovascular system physiology",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "Decreased anatomical entity mass density",
+ "anatomical entity physiology phenotype",
+ "zone of bone organ",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "renal system",
+ "phenotype",
+ "Hyperchloremic acidosis",
+ "Abnormal bone structure",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "organ",
+ "nephron",
+ "curved long bone",
+ "renal system physiology phenotype",
+ "kidney epithelium",
+ "Abnormal blood phosphate concentration",
+ "compound organ",
+ "phosphorus oxoacids and derivatives",
+ "shape long bone",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "abdominal segment of trunk",
+ "abdomen",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "material anatomical entity physiology phenotype",
+ "Neoplasm of the lung",
+ "phosphoric acid derivative",
+ "quality",
+ "Abnormality of the cardiovascular system",
+ "Abnormality of the genitourinary system",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "Neoplasm by anatomical site",
+ "p-block molecular entity",
+ "Elevated urinary carboxylic acid",
+ "cell and tissue damage process",
+ "skeleton",
+ "Abnormality on pulmonary function testing",
+ "leg phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "hematopoietic system",
+ "multicellular organism",
+ "thoracic cavity element",
+ "All",
+ "anatomical collection",
+ "thoracic segment organ",
"vessel",
- "vascular system",
- "conceptus",
- "incomplete closing of the ductus arteriosus",
- "blood vessel phenotype",
- "U-shaped kidney",
- "artery morphology phenotype",
- "blood vessel",
- "coronary vessel",
- "vessel phenotype",
- "incomplete closing of the heart blood vessel",
- "multicellular anatomical structure morphology in the heart phenotype",
- "blood vessel morphology phenotype",
- "vascular system morphology phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "systemic arterial system",
- "trunk blood vessel phenotype",
- "coronary vessel morphology phenotype",
- "vasculature of organ phenotype",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "blood vasculature",
- "vasculature of trunk",
- "trunk blood vessel",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "great vessel of heart",
- "heart blood vessel",
- "embryonic cardiovascular system",
+ "diaphysis",
+ "lower respiratory tract",
+ "lung phenotype",
+ "articulation phenotype",
+ "pelvic appendage",
+ "endoderm-derived structure",
+ "pair of lungs",
+ "respiration organ",
+ "shape of continuant phenotype",
+ "Abnormal DLCO",
+ "anatomical entity morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "thoracic segment of trunk",
+ "metabolic process",
+ "endoderm-derived structure phenotype",
+ "respiratory system phenotype",
+ "Pulmonary fibrosis",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "organ part",
+ "multicellular organismal process",
+ "epithelial tube",
+ "respiratory system",
+ "Abnormal pulmonary interstitial morphology",
+ "skeleton of limb",
+ "knee morphology phenotype",
+ "respiratory airway",
+ "subdivision of tube",
+ "renal system phenotype",
+ "respiratory system physiology phenotype",
+ "viscus phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "Abnormal skeletal morphology",
+ "Decreased bone element mass density",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "musculature of body",
+ "skeletal element phenotype",
+ "curved anatomical entity",
+ "skeletal system phenotype",
+ "lower limb segment",
+ "Reduced bone mineral density",
+ "bone element mass density phenotype",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "Abnormal respiratory system morphology",
+ "shape anatomical entity",
+ "paired limb/fin phenotype",
+ "curved hindlimb zeugopod",
+ "Abnormal appendicular skeleton morphology",
+ "appendage phenotype",
+ "knee phenotype",
+ "limb endochondral element",
+ "lateral structure physiology phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "paired limb/fin",
+ "multi organ part structure phenotype",
+ "paired limb/fin segment",
+ "Abnormality of the knee",
+ "monoatomic ion",
+ "leg",
+ "nephron tubule morphology phenotype",
+ "long bone",
+ "increased level of protein polypeptide chain in urine",
+ "Abnormal joint morphology",
+ "limb segment",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "hindlimb joint phenotype",
+ "heteroatomic molecular entity",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Organic aciduria",
+ "Abnormal diaphysis morphology",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "Rickets",
+ "multi organ part structure",
+ "vasculature phenotype",
+ "Non-small cell lung carcinoma",
+ "skeletal joint",
+ "organ, curved phenotype",
+ "skeletal element, curved phenotype",
+ "respiratory system morphology phenotype",
+ "musculoskeletal system",
+ "curvature anatomical entity",
+ "limb joint",
+ "limb bone",
+ "Hypophosphatemic rickets",
+ "knee",
"vasculature",
- "systemic artery",
- "Abnormal blood vessel morphology",
- "Abnormality of the vasculature",
- "incomplete closing of the trunk blood vessel",
- "great vessel of heart morphology phenotype",
- "arterial blood vessel phenotype",
- "incomplete closing of the coronary vessel",
- "Abnormal auditory canal morphology",
- "external acoustic meatus atresia",
- "external acoustic meatus phenotype",
- "closing of the endoderm-derived structure",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "absent endochondral element",
- "absent neuron projection bundle",
- "absent radius endochondral element",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "absent bone element",
- "absent anatomical entity in the multicellular organism",
+ "Abnormal long bone morphology",
+ "hindlimb zeugopod",
+ "Abnormal lung morphology",
+ "anatomical system",
+ "Abnormality of lower limb joint",
+ "zeugopod phenotype",
+ "bone element, curved phenotype",
+ "limb"
+ ],
+ "has_phenotype_count": 14,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0014275",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 3",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
+ "xref": [
+ "DOID:0080759",
+ "GARD:15991",
+ "MEDGEN:816430",
+ "OMIM:615605",
+ "UMLS:C3810100"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "EHHADH Fanconi syndrome",
+ "FRTS3",
+ "Fanconi renotubular syndrome 3",
+ "Fanconi renotubular syndrome type 3",
+ "Fanconi syndrome caused by mutation in EHHADH"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001942",
+ "HP:0003259",
+ "HP:0001510",
+ "HP:0003109",
+ "HP:0002748",
+ "HP:0002979",
+ "HP:0003076",
+ "HP:0000083",
+ "HP:0004322",
+ "HP:0003355",
+ "HP:0003126"
+ ],
+ "has_phenotype_label": [
+ "Metabolic acidosis",
+ "Elevated circulating creatinine concentration",
+ "Growth delay",
+ "Hyperphosphaturia",
+ "Rickets",
+ "Bowing of the legs",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Short stature",
+ "Aminoaciduria",
+ "Low-molecular-weight proteinuria"
+ ],
+ "has_phenotype_closure": [
+ "HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:16670",
+ "CHEBI:15841",
+ "HP:0003355",
+ "CHEBI:33674",
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+ "UPHENO:0068169",
+ "HP:0031980",
+ "CHEBI:50047",
+ "CHEBI:33575",
+ "HP:0032943",
+ "CHEBI:33709",
+ "CHEBI:24651",
+ "CHEBI:36586",
+ "HP:0012072",
+ "UPHENO:0075195",
+ "UPHENO:0069327",
+ "UPHENO:0068971",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0069254",
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+ "UPHENO:0075159",
+ "UPHENO:0002386",
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+ "UPHENO:0075902",
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+ "UPHENO:0003093",
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+ "CHEBI:15693",
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+ "CHEBI:17234",
+ "UPHENO:0068054",
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+ "HP:0000077",
+ "CHEBI:78616",
+ "CHEBI:36587",
+ "UPHENO:0089294",
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+ "UBERON:0000075",
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+ "UPHENO:0084767",
+ "UPHENO:0051739",
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+ "CHEBI:33839",
+ "CHEBI:26079",
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+ "CHEBI:36360",
+ "HP:0430071",
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+ "UBERON:8450002",
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+ "UPHENO:0002830",
+ "UPHENO:0080351",
+ "UPHENO:0076286",
+ "GO:0008152",
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+ "UPHENO:0068049",
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+ "CHEBI:23443",
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+ "CHEBI:38101",
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+ "CHEBI:33832",
+ "UBERON:0000468",
+ "HP:0012591",
+ "HP:0001510",
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+ "HP:0001507",
+ "CHEBI:37577",
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+ "CHEBI:16737",
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+ "UPHENO:0049904",
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+ "CHEBI:33256",
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+ "UPHENO:0002269",
+ "CHEBI:25693",
+ "UBERON:0000061",
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+ "UBERON:0006314",
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+ "UBERON:0001015",
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+ "UPHENO:0082834",
+ "UPHENO:0002861",
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+ "UBERON:0001062",
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+ "UBERON:0011249",
+ "CHEBI:33670",
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+ "CHEBI:24532",
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+ "UPHENO:0048707",
+ "HP:0011849",
+ "UPHENO:0003049",
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+ "UPHENO:0068064",
+ "CHEBI:72695",
+ "UPHENO:0002530",
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+ "UBERON:0002390",
+ "UBERON:0010000",
+ "UPHENO:0082536",
+ "HP:0032180",
+ "UPHENO:0081547",
+ "UPHENO:0002427",
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+ "UBERON:0011216",
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+ "UPHENO:0031339",
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+ "UPHENO:0068346",
+ "UPHENO:0049587",
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+ "CHEBI:64709",
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+ "HP:0003330",
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+ "UPHENO:0082835",
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+ "UPHENO:0002944",
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+ "HP:0040068",
+ "UPHENO:0075952",
+ "CHEBI:24995",
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+ "UPHENO:0031318",
+ "UPHENO:0002600",
+ "UBERON:0011582",
+ "HP:0004322",
+ "UPHENO:0002568",
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+ "CHEBI:33917",
+ "UBERON:0004375",
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+ "UPHENO:0076285",
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+ "UPHENO:0041258",
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+ "HP:0011314",
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+ "UPHENO:0031276",
+ "CHEBI:33608",
+ "HP:0000940",
+ "HP:0003259",
+ "UBERON:0010758",
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+ "UPHENO:0086628",
+ "UBERON:0004381",
+ "HP:0002814",
+ "UPHENO:0002411",
+ "HP:0002981",
+ "UPHENO:0031142",
+ "UPHENO:0002731",
+ "UBERON:0006058"
+ ],
+ "has_phenotype_closure_label": [
+ "macromolecule",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "amino acid level phenotype",
+ "Abnormal urine carboxylic acid level",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "organic amino compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "Short stature",
+ "decreased height of the anatomical entity",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "kidney",
+ "upper urinary tract phenotype",
+ "abdomen element phenotype",
+ "subdivision of trunk",
+ "main body axis",
+ "subdivision of organism along main body axis",
+ "Abnormality of the kidney",
+ "Renal insufficiency",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "abdomen",
+ "trunk region element",
+ "multicellular anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "abdomen element",
+ "abdominal segment element physiology phenotype",
+ "kidney physiology phenotype",
+ "trunk region element physiology phenotype",
+ "increased level of monosaccharide in urine",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "increased urine role level",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "role urine level phenotype",
+ "organism subdivision, curved phenotype",
+ "hindlimb zeugopod phenotype",
+ "shape hindlimb zeugopod",
+ "long bone phenotype",
+ "limb morphology phenotype",
+ "hydrogen molecular entity",
+ "endochondral bone phenotype",
+ "bone of appendage girdle complex phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "aldohexose",
+ "zone of organ",
+ "organism subdivision",
+ "renal system phenotype",
+ "organic molecule",
+ "anatomical system physiology phenotype",
+ "growth",
+ "delayed growth",
+ "molecule",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "material anatomical entity phenotype",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "homeostatic process phenotype",
+ "kidney phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "hematopoietic system phenotype",
+ "Abnormal limb bone morphology",
+ "blood chemical entity level phenotype",
+ "increased level of chemical entity in blood",
+ "taxon specific phenotype",
+ "phosphate level phenotype",
+ "hindlimb",
+ "increased level of chemical entity in blood serum",
+ "urine",
+ "increased level of creatinine in blood serum",
+ "Azotemia",
+ "imidazolidinone",
+ "independent continuant",
+ "appendage girdle complex",
+ "lower limb segment, curved phenotype",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "organic molecular entity",
+ "monocyclic compound",
+ "size of anatomical entity phenotype",
+ "organ physiology phenotype",
+ "phenotypic effect",
+ "long bone",
+ "blood creatinine level phenotype",
+ "phenotype",
+ "bone of appendage girdle complex",
+ "increased blood role level",
+ "leg",
+ "body proper",
+ "increased level of glucose in urine",
+ "nitrogen molecular entity level phenotype",
+ "organooxygen compound",
+ "heteroorganic entity",
+ "genitourinary system",
+ "blood organic molecular entity level phenotype",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "organic acid",
+ "Abnormal circulating metabolite concentration",
+ "ossification",
+ "growth phenotype",
+ "shape anatomical entity",
+ "nitrogen molecular entity",
+ "Abnormal circulating organic compound concentration",
+ "Metabolic acidosis",
+ "oxoacid",
+ "delayed biological_process",
+ "limb skeleton subdivision",
+ "organic heteromonocyclic compound",
"metabolic process",
- "Abnormal cerebral white matter morphology",
- "hormone secretion",
- "absent skeletal element",
- "paired limb/fin",
- "Aplasia involving forearm bones",
- "absent forelimb bone",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "Hearing impairment",
- "bone of dorsum",
- "absent limb long bone",
- "kidney hypoplasia",
- "thyroid gland phenotype",
- "absent bone of pectoral complex",
- "decreased length of metacarpal bone of digit 1",
- "number of anatomical enitites of type organ phenotype",
- "absent organ in the multicellular organism",
- "absent bone of free limb or fin",
- "absent anatomical entity in the skeletal system",
- "absent multicellular anatomical structure",
- "absent anatomical entity in the forelimb",
- "autopod bone",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity",
- "number of anatomical enitites of type neuron projection bundle phenotype",
- "acropodium region",
- "Absent radius",
- "decreased biological_process",
- "absent bone element in the forelimb",
- "absent arm bone",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent bone of pectoral complex in the forelimb",
- "middle ear phenotype",
- "absent ectoderm-derived structure in the brain",
- "absent bone of pectoral complex in the limb",
- "middle ear",
- "pigmentation",
- "small intestine phenotype",
- "absent bone of free limb or fin in the limb",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "closing of the multicellular anatomical structure",
- "circulatory system",
- "digestive system element",
- "limb bone morphology phenotype",
- "small intestine morphology phenotype",
- "biogenic amine secreting cell",
- "closing of the anatomical system",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "cranial nerve II hypoplasia",
- "closing of the organ part",
- "anatomical conduit",
- "Abnormal intestine morphology",
- "duodenum atresia",
+ "Abnormality of the urinary system physiology",
+ "zeugopod, curved phenotype",
+ "lactam",
+ "material anatomical entity",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "cavitated compound organ phenotype",
+ "bone of free limb or fin",
+ "blood serum chemical entity level phenotype",
+ "anatomical system",
+ "organic cyclic compound",
+ "Abnormal bone structure",
+ "trunk",
+ "role blood serum level phenotype",
+ "limb",
+ "chemical entity",
+ "abdominal segment element",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "Acidosis",
+ "material entity",
+ "shape long bone",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "abdomen element physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "imidazolidines",
+ "paired limb/fin segment phenotype",
+ "process",
+ "role bodily fluid level phenotype",
+ "blood plasma chemical entity level phenotype",
+ "curved hindlimb zeugopod",
+ "blood serum",
+ "posterior region of body",
+ "multicellular anatomical structure",
+ "lateral structure phenotype",
+ "role blood level phenotype",
+ "multicellular organism chemical entity level phenotype",
+ "carboxamide",
+ "endochondral element",
+ "organism subdivision phenotype",
+ "carbohydrate",
+ "increased bodily fluid role level",
+ "biological_process",
+ "anatomical structure",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "Bowing of the long bones",
+ "limb endochondral element phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "s-block molecular entity",
+ "increased level of chemical entity in blood plasma",
+ "Elevated circulating creatinine concentration",
+ "bone element mass density phenotype",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "specifically dependent continuant",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "organism substance",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "anatomical entity physiology phenotype",
+ "zone of bone organ",
+ "limb bone phenotype",
+ "multicellular organism phenotype",
+ "heteromonocyclic compound",
+ "haemolymphatic fluid",
+ "Abnormal circulating creatinine concentration",
+ "increased level of chemical entity",
+ "Abnormal urinary electrolyte concentration",
+ "mesoderm-derived structure",
+ "Abnormality of acid-base homeostasis",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "appendage",
+ "homeostatic process",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "Abnormality of metabolism/homeostasis",
+ "increased level of chemical entity in bodily fluid",
+ "increased level of chemical entity in urine",
+ "phosphate",
+ "organonitrogen heterocyclic compound",
+ "p-block molecular entity",
+ "Elevated urinary carboxylic acid",
+ "skeleton",
"multicellular organism",
- "Abnormal gastrointestinal tract morphology",
- "external ear phenotype",
- "Abnormality of the head",
- "multi cell part structure",
- "closing of the subdivision of tube",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "absent bone of appendage girdle complex in the limb",
- "subdivision of digestive tract phenotype",
- "secretion by cell phenotype",
- "digestive tract",
- "skeleton of limb",
- "decreased length of manual digit phalanx endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "small intestine",
- "duodenum phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "tube phenotype",
- "sense organ physiology phenotype",
- "arm phenotype",
- "Abnormal immune system morphology",
- "Bone marrow hypocellularity",
- "leukocyte morphology phenotype",
- "system",
- "thoracic segment of trunk",
- "decreased length of endochondral element",
- "bone of pectoral complex phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "subdivision of organism along appendicular axis",
- "ventricular system of brain",
- "absent anatomical entity in the central nervous system",
- "aplasia or hypoplasia of anatomical entity",
- "decreased length of forelimb endochondral element",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "formed ectoderm-derived structure",
- "decreased size of the limb endochondral element",
- "middle ear physiology phenotype",
- "appendicular skeleton phenotype",
- "digestive system phenotype",
- "reproductive gland",
- "vertebra",
- "Optic nerve hypoplasia",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "aplastic anatomical entity",
- "vertebra phenotype",
- "skeleton phenotype",
- "subdivision of digestive tract",
- "decreased size of the reproductive structure",
- "regulation of gene expression",
- "decreased length of long bone",
+ "hematopoietic system",
+ "Bowing of the legs",
+ "Abnormality of the skeletal system",
+ "appendicular skeleton",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
"multicellular organism morphology phenotype",
- "decreased qualitatively biological_process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "decreased length of metacarpal bone",
- "decreased nervous system process",
- "great vessel of heart phenotype",
- "bone of appendage girdle complex phenotype",
- "reproductive system",
- "material anatomical entity morphology in the heart phenotype",
- "decreased size of the organ",
- "decreased length of digitopodium bone",
- "radius bone phenotype",
- "aplasia or hypoplasia of skeleton",
- "cervical vertebra phenotype",
- "corpus callosum",
- "long bone phenotype",
- "decreased length of metapodium bone 1",
- "appendage girdle complex",
- "Aplasia/hypoplasia involving forearm bones",
- "white matter of forebrain phenotype",
- "Abnormality of limb bone",
- "fused skeletal joint and skeletal joint",
- "decreased size of the mesoderm-derived structure",
- "absent anatomical structure",
- "Abnormal forearm morphology",
- "vertebral column",
- "zeugopodial skeleton",
+ "cavitated compound organ",
+ "subdivision of organism along appendicular axis phenotype",
+ "cyclic amide",
+ "shape of continuant phenotype",
+ "paired limb/fin segment",
+ "bodily fluid",
+ "polyatomic entity",
+ "main group molecular entity",
+ "increased level of nitrogen molecular entity in blood",
+ "blood plasma",
+ "increased level of creatinine in blood",
+ "creatinine",
+ "Abnormal circulating nitrogen compound concentration",
+ "carbon group molecular entity",
+ "increased blood serum role level",
+ "protein polypeptide chain",
+ "continuant",
+ "organic heterocyclic compound",
+ "limb segment phenotype",
+ "compound organ",
+ "phosphorus oxoacids and derivatives",
"quality",
- "size of anatomical entity phenotype",
- "gland of diencephalon",
- "Abnormality of head or neck",
- "cell-cell signaling",
- "vestibulo-auditory system",
- "Abnormal endocrine morphology",
- "long bone morphology phenotype",
- "decreased length of phalanx endochondral element",
- "metencephalon",
+ "phosphoric acid derivative",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of limbs",
+ "phosphorus molecular entity",
+ "paired limb/fin phenotype",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "oxoacid derivative",
+ "renal system physiology phenotype",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "leg phenotype",
+ "renal system",
+ "Aciduria",
+ "Abnormality of the urinary system",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "Decreased anatomical entity mass density",
+ "endochondral element phenotype",
+ "anatomical entity mass density phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "heterocyclic compound",
+ "skeletal system",
+ "Abnormality of the musculoskeletal system",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal morphology",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "organ",
+ "curved long bone",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "Rickets",
+ "multicellular organismal process",
+ "organ part",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "multicellular anatomical structure phenotype",
+ "skeletal element",
+ "zeugopod",
+ "musculature of body",
+ "skeletal element phenotype",
+ "lower limb segment",
+ "trunk region element phenotype",
+ "limb segment, curved phenotype",
+ "diazolidine",
+ "Reduced bone mineral density",
+ "skeletal system morphology phenotype",
+ "abdominal segment of trunk",
"anatomical entity morphology in the appendage girdle complex phenotype",
- "metapodial skeleton phenotype",
- "skin of body morphology phenotype",
- "paired limb/fin skeleton phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "decreased length of bone of pectoral complex",
- "Aplasia involving bones of the extremities",
- "absent limb bone",
- "lower urinary tract",
- "outflow tract",
- "organ part atresia",
- "individual digit of digitopodial skeleton",
- "anatomical entity atresia",
- "myeloid cell",
- "autopod region",
- "limb phenotype",
+ "blood nitrogen molecular entity level phenotype",
"Abnormal appendicular skeleton morphology",
- "anatomical entity length phenotype",
- "negative regulation of metabolic process phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "anucleate cell",
- "Vesicoureteral reflux",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "limb endochondral element",
+ "lateral structure physiology phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "paired limb/fin",
+ "skeletal system phenotype",
+ "curved anatomical entity",
+ "lateral structure",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "increased level of protein polypeptide chain in urine",
+ "limb segment",
+ "zone of long bone",
+ "pelvic appendage",
+ "Abnormality of the lower limb",
+ "heteroatomic molecular entity",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Organic aciduria",
+ "Abnormal diaphysis morphology",
+ "organ, curved phenotype",
+ "musculoskeletal system",
+ "skeletal element, curved phenotype",
+ "curvature anatomical entity",
+ "All",
+ "anatomical collection",
+ "Growth delay",
+ "diaphysis",
+ "skeleton of limb",
+ "limb bone",
+ "Abnormal long bone morphology",
+ "hindlimb zeugopod",
+ "zeugopod phenotype",
+ "bone element, curved phenotype",
+ "multi-limb segment region",
+ "appendage phenotype",
+ "hindlimb zeugopod morphology phenotype",
+ "cyclic compound",
+ "multi-limb segment region phenotype",
+ "chemical entity level phenotype",
+ "amide",
+ "Abnormality of limb bone",
+ "Proteinuria",
+ "protein-containing material entity",
+ "material anatomical entity, curved phenotype",
+ "pelvic complex",
+ "excretory system",
+ "long bone morphology phenotype",
+ "organ phenotype",
+ "lower limb segment phenotype",
+ "decreased size of the anatomical entity",
+ "blood",
+ "paired limb/fin segment, curved phenotype",
+ "primary amide",
+ "limb bone morphology phenotype",
+ "system",
+ "appendicular skeletal system",
+ "subdivision of organism along appendicular axis, curved phenotype"
+ ],
+ "has_phenotype_count": 11,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0013247",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 2",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.",
+ "xref": [
+ "DOID:0080758",
+ "GARD:15655",
+ "MEDGEN:462002",
+ "OMIM:613388",
+ "UMLS:C3150652"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FRTS2",
+ "Fanconi renotubular syndrome 2",
+ "Fanconi renotubular syndrome type 2",
+ "Fanconi syndrome caused by mutation in SLC34A1",
+ "SLC34A1 Fanconi syndrome"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0000117",
+ "HP:0002148",
+ "HP:0000114",
+ "HP:0002757",
+ "HP:0002748",
+ "HP:0000938",
+ "HP:0002909",
+ "HP:0031415",
+ "HP:0000093",
+ "HP:0003076",
+ "HP:0003165",
+ "HP:0004322",
+ "HP:0002653",
+ "HP:0012213",
+ "HP:0002150",
+ "HP:0000083"
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Renal phosphate wasting",
+ "Hypophosphatemia",
+ "Proximal tubulopathy",
+ "Recurrent fractures",
+ "Rickets",
+ "Osteopenia",
+ "Generalized aminoaciduria",
+ "High serum calcitriol",
+ "Proteinuria",
+ "Glycosuria",
+ "Elevated circulating parathyroid hormone level",
+ "Short stature",
+ "Bone pain",
+ "Decreased glomerular filtration rate",
+ "Hypercalciuria",
+ "Renal insufficiency"
+ ],
+ "has_phenotype_closure": [
+ "HP:0002150",
+ "HP:0011280",
+ "UPHENO:0046344",
+ "CHEBI:33559",
+ "UPHENO:0068134",
+ "HP:0025142",
+ "HP:0012531",
+ "UPHENO:0075195",
+ "UPHENO:0069327",
+ "GO:0040007",
+ "HP:0001510",
+ "UPHENO:0081424",
+ "UPHENO:0069254",
+ "UPHENO:0002949",
+ "UPHENO:0069266",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UPHENO:0075159",
+ "HP:0000818",
+ "UPHENO:0068068",
+ "UPHENO:0051648",
+ "HP:0002152",
+ "UPHENO:0068971",
+ "CHEBI:33695",
+ "PR:000064867",
+ "UBERON:0000949",
+ "HP:0004360",
+ "UPHENO:0068442",
+ "UPHENO:0051612",
+ "UPHENO:0082943",
+ "HP:0430071",
+ "UPHENO:0068472",
+ "PR:000018263",
+ "CHEBI:33694",
+ "UPHENO:0068477",
+ "UBERON:0001969",
+ "HP:0012337",
+ "UBERON:0034923",
+ "HP:0100530",
+ "UBERON:0015204",
+ "UPHENO:0082536",
+ "HP:0001948",
+ "CHEBI:33917",
+ "HP:6000531",
+ "UPHENO:0068054",
+ "HP:0010876",
+ "CHEBI:35381",
+ "UPHENO:0080658",
+ "HP:0000093",
+ "CHEBI:16541",
+ "UPHENO:0068565",
+ "CHEBI:16670",
+ "CHEBI:15841",
+ "UPHENO:0079534",
+ "UPHENO:0068047",
+ "UPHENO:0069062",
+ "UPHENO:0049627",
+ "GO:0008202",
+ "PR:000013429",
+ "HP:0100508",
+ "UPHENO:0049873",
+ "CHEBI:33822",
+ "CHEBI:33832",
+ "GO:1901615",
+ "GO:1901360",
+ "UPHENO:0082539",
+ "CHEBI:37622",
+ "GO:0006775",
+ "UPHENO:0077817",
+ "GO:0071704",
+ "UPHENO:0076293",
+ "UPHENO:0068251",
+ "UPHENO:0048763",
+ "CHEBI:73558",
+ "HP:0004364",
+ "UPHENO:0078589",
+ "UPHENO:0078628",
+ "UPHENO:0046362",
+ "UPHENO:0046291",
+ "CHEBI:17823",
+ "UPHENO:0000543",
+ "HP:0003076",
+ "CHEBI:27300",
+ "CHEBI:35788",
+ "UPHENO:0048711",
+ "UPHENO:0081547",
+ "UPHENO:0050502",
+ "CHEBI:18059",
+ "CHEBI:26191",
+ "UPHENO:0089759",
+ "CHEBI:35350",
+ "UPHENO:0066939",
+ "HP:0002653",
+ "UPHENO:0076703",
+ "HP:0012213",
+ "PR:000050567",
+ "BFO:0000003",
+ "UPHENO:0049618",
+ "CHEBI:33259",
+ "UPHENO:0051960",
+ "UPHENO:0004459",
+ "UPHENO:0080351",
+ "UPHENO:0076286",
+ "UPHENO:0080352",
+ "UBERON:0000179",
+ "CHEBI:27136",
+ "BFO:0000004",
+ "UBERON:0000064",
+ "HP:0002148",
+ "UPHENO:0051630",
+ "UPHENO:0034253",
+ "UBERON:0000468",
+ "UBERON:0002417",
+ "CHEBI:78616",
+ "HP:0000077",
+ "HP:0033331",
+ "UBERON:0006555",
+ "HP:0100529",
+ "UPHENO:0002963",
+ "UPHENO:0005201",
+ "CHEBI:35352",
+ "UPHENO:0051686",
+ "CHEBI:33579",
+ "CHEBI:36357",
+ "GO:0008152",
+ "UPHENO:0051712",
+ "CHEBI:33595",
+ "UPHENO:0049587",
+ "CHEBI:33675",
+ "UPHENO:0002246",
+ "CHEBI:33318",
+ "HP:0003111",
+ "CHEBI:24431",
+ "HP:0001507",
+ "CHEBI:37577",
+ "HP:0000079",
+ "HP:0020129",
+ "UPHENO:0046348",
+ "UPHENO:0066927",
+ "CHEBI:15693",
+ "UPHENO:0081544",
+ "UPHENO:0002442",
+ "PATO:0000001",
+ "UPHENO:0002731",
+ "UBERON:8450002",
+ "UPHENO:0068169",
+ "HP:0032369",
+ "CHEBI:33302",
+ "UPHENO:0002269",
+ "CHEBI:23367",
+ "CHEBI:24867",
+ "CHEBI:33256",
+ "UBERON:0000025",
+ "UPHENO:3000004",
+ "UPHENO:0077826",
+ "UPHENO:0002427",
+ "HP:0001939",
+ "CHEBI:26082",
+ "HP:0011277",
+ "UPHENO:0068491",
+ "CHEBI:36360",
+ "BFO:0000020",
+ "UPHENO:0066964",
+ "UPHENO:0002559",
+ "UPHENO:0049904",
+ "GO:0006766",
+ "UBERON:0000178",
+ "HP:0000118",
+ "UBERON:0001434",
+ "UPHENO:0002636",
+ "UPHENO:0066739",
+ "UPHENO:0075902",
+ "UPHENO:0050116",
+ "UPHENO:0002525",
+ "UPHENO:0002870",
+ "HP:0032180",
+ "UPHENO:0002964",
+ "HP:0000119",
+ "UPHENO:0001003",
+ "UBERON:0002193",
+ "UPHENO:0002422",
+ "CHEBI:33241",
+ "UPHENO:0002526",
+ "CHEBI:33635",
+ "UBERON:0000061",
+ "CHEBI:36359",
+ "HP:0003110",
+ "UBERON:0001231",
+ "UPHENO:0089764",
+ "BFO:0000002",
+ "UPHENO:0084653",
+ "CHEBI:36080",
+ "UBERON:0006314",
+ "HP:0000114",
+ "HP:0004349",
+ "GO:0042359",
+ "UPHENO:0082834",
+ "HP:0033405",
+ "BFO:0000040",
+ "UBERON:0013702",
+ "CHEBI:33304",
+ "PR:000000001",
+ "UPHENO:0002976",
+ "UPHENO:0051900",
+ "UPHENO:0051739",
+ "UBERON:0004120",
+ "CHEBI:35341",
+ "UPHENO:0002554",
+ "BFO:0000001",
+ "UPHENO:0066954",
+ "HP:0003330",
+ "GO:0044238",
+ "UPHENO:0001001",
+ "UPHENO:0084654",
+ "UPHENO:0034351",
+ "UPHENO:0002252",
+ "UPHENO:0080643",
+ "UBERON:0011216",
+ "UPHENO:0005092",
+ "UBERON:0001062",
+ "HP:0000924",
+ "UBERON:0000174",
+ "GO:0001503",
+ "UBERON:0000062",
+ "CHEBI:32988",
+ "UPHENO:0081581",
+ "HP:0000001",
+ "UBERON:0004111",
+ "HP:0012599",
+ "HP:0011842",
+ "HP:0033127",
+ "UPHENO:0051763",
+ "CHEBI:22313",
+ "CHEBI:51958",
+ "GO:0008150",
+ "UPHENO:0066960",
+ "UPHENO:0005285",
+ "UPHENO:0068064",
+ "CHEBI:72695",
+ "UPHENO:0051628",
+ "UPHENO:0002530",
+ "GO:0006629",
+ "UBERON:0001015",
+ "UPHENO:0003088",
+ "BFO:0000015",
+ "HP:0001871",
+ "UBERON:0003103",
+ "UPHENO:0068110",
+ "UPHENO:0002536",
+ "UPHENO:0076692",
+ "CHEBI:36963",
+ "GO:0042592",
+ "UBERON:0000489",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "UPHENO:0003116",
+ "UPHENO:0051804",
+ "CHEBI:33250",
+ "UBERON:0002113",
+ "HP:0000117",
+ "HP:0012212",
+ "UBERON:0001977",
+ "UPHENO:0051635",
+ "UBERON:0000383",
+ "HP:0000083",
+ "GO:0032501",
+ "HP:0100511",
+ "UPHENO:0001002",
+ "CHEBI:33238",
+ "HP:0010935",
+ "UPHENO:0002287",
+ "UBERON:0004122",
+ "UPHENO:0002859",
+ "UPHENO:0005141",
+ "CHEBI:33839",
+ "CHEBI:26079",
+ "HP:0031415",
+ "UPHENO:0004791",
+ "HP:0011849",
+ "UPHENO:0048707",
+ "UPHENO:0082534",
+ "HP:0002749",
+ "UPHENO:0002668",
+ "UPHENO:0082835",
+ "GO:0044281",
+ "UBERON:0001088",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "UBERON:0004211",
+ "UPHENO:0002564",
+ "UBERON:0007684",
+ "UBERON:0009773",
+ "UPHENO:0052038",
+ "UPHENO:0066951",
+ "UBERON:0005172",
+ "UPHENO:0002909",
+ "CHEBI:16646",
+ "HP:0000124",
+ "UBERON:0000483",
+ "UPHENO:0068533",
+ "CHEBI:47042",
+ "UBERON:0005173",
+ "UPHENO:0066950",
+ "UPHENO:0066903",
+ "UBERON:0005177",
+ "UPHENO:0002210",
+ "HP:0012211",
+ "UPHENO:0076285",
+ "UBERON:0015212",
+ "UPHENO:0002411",
+ "HP:0004348",
+ "UPHENO:0002311",
+ "UPHENO:0002308",
+ "UPHENO:0003093",
+ "UBERON:0011676",
+ "UBERON:0009569",
+ "CHEBI:24651",
+ "HP:0003117",
+ "UBERON:0002390",
+ "UPHENO:0051709",
+ "UBERON:0010000",
+ "HP:0001992",
+ "UPHENO:0066943",
+ "UPHENO:0082875",
+ "UBERON:0002100",
+ "UBERON:0001474",
+ "UPHENO:0003430",
+ "CHEBI:18133",
+ "HP:0025745",
+ "UPHENO:0002360",
+ "UPHENO:0024906",
+ "CHEBI:17234",
+ "UPHENO:0066946",
+ "CHEBI:24870",
+ "UPHENO:0003941",
+ "UPHENO:0002377",
+ "UPHENO:0002754",
+ "CHEBI:36853",
+ "UBERON:0004819",
+ "UPHENO:0003094",
+ "HP:0012591",
+ "UPHENO:0066925",
+ "UPHENO:0002816",
+ "UBERON:0011143",
+ "UPHENO:0002248",
+ "UPHENO:0089294",
+ "CHEBI:36587",
+ "UBERON:0000916",
+ "UPHENO:0002386",
+ "UBERON:0000479",
+ "UPHENO:0066959",
+ "UPHENO:0066913",
+ "UBERON:0000475",
+ "HP:0003165",
+ "UBERON:0013701",
+ "UBERON:0001285",
+ "UPHENO:0046284",
+ "UPHENO:0002426",
+ "UPHENO:0002346",
+ "UPHENO:0068049",
+ "CHEBI:51143",
+ "UBERON:0002204",
+ "UPHENO:0081440",
+ "HP:0032943",
+ "HP:0032245",
+ "HP:0002757",
+ "UPHENO:0002385",
+ "HP:0002659",
+ "HP:0011843",
+ "UPHENO:0002832",
+ "UPHENO:0002803",
+ "HP:0002748",
+ "HP:0000938",
+ "HP:0012072",
+ "UPHENO:0046281",
+ "CHEBI:25806",
+ "CHEBI:33521",
+ "UPHENO:0082541",
+ "CHEBI:36586",
+ "CHEBI:35605",
+ "CHEBI:33709",
+ "CHEBI:33285",
+ "CHEBI:25367",
+ "UPHENO:0002267",
+ "UBERON:0003914",
+ "CHEBI:64709",
+ "CHEBI:33608",
+ "UPHENO:0046286",
+ "UBERON:0000465",
+ "CHEBI:33582",
+ "CHEBI:33575",
+ "CHEBI:50047",
+ "HP:0031980",
+ "HP:0000002",
+ "HP:0002157",
+ "UPHENO:0066921",
+ "HP:0033354",
+ "UPHENO:0049723",
+ "UPHENO:0046383",
+ "CHEBI:22984",
+ "CHEBI:26020",
+ "UBERON:0000463",
+ "HP:0040156",
+ "UPHENO:0081423",
+ "UBERON:0015203",
+ "UPHENO:0002642",
+ "HP:0002909",
+ "UPHENO:0068144",
+ "CHEBI:33674",
+ "UBERON:0001008",
+ "CHEBI:24833",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "HP:0003355"
+ ],
+ "has_phenotype_closure_label": [
+ "Renal insufficiency",
+ "alkaline earth metal atom",
+ "Abnormality of urine calcium concentration",
+ "increased level of calcium atom in urine",
+ "calcium atom level phenotype",
+ "metal atom",
+ "Hypercalciuria",
+ "s-block element atom",
+ "Abnormal glomerular filtration rate",
+ "Pain",
+ "atom",
+ "anatomical entity height phenotype",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "growth",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
+ "multicellular organism phenotype",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "protein",
+ "Elevated circulating parathyroid hormone level",
+ "Abnormality of the endocrine system",
+ "blood nitrogen molecular entity level phenotype",
+ "Abnormality of acid-base homeostasis",
+ "increased level of protein",
+ "Abnormal circulating organic amino compound concentration",
+ "blood organic amino compound level phenotype",
+ "increased level of chemical entity in blood serum",
+ "protein level phenotype",
+ "increased level of protein in blood",
+ "Alkalosis",
+ "Azotemia",
+ "parathyroid hormone",
+ "Hyperproteinemia",
+ "Acute phase response",
+ "Abnormal circulating nitrogen compound concentration",
+ "non-connected functional system",
+ "Short stature",
+ "endocrine system",
+ "blood serum",
+ "disconnected anatomical group",
+ "blood plasma",
+ "increased level of nitrogen molecular entity in blood",
+ "blood protein polypeptide chain level phenotype",
+ "endocrine system phenotype",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "macromolecule",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "vitamin D metabolic process",
+ "small molecule metabolic process",
+ "glandular system",
+ "primary metabolic process",
+ "increased level of lipid in blood",
+ "blood plasma chemical entity level phenotype",
+ "role bodily fluid level phenotype",
+ "main group element atom",
+ "hormone blood level phenotype",
+ "increased level of chemical entity in blood",
+ "decreased height of the multicellular organism",
+ "organic hydroxy compound metabolic process phenotype",
+ "primary metabolic process phenotype",
+ "small molecule metabolic process phenotype",
+ "blood organic molecular entity level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organic hydroxy compound",
+ "polycyclic compound",
+ "increased blood role level",
+ "calcitriol",
+ "vitamin D",
+ "polyol",
+ "steroid metabolic process phenotype",
+ "steroid metabolic process",
+ "increased level of calcitriol in blood",
+ "growth phenotype",
+ "blood lipid level phenotype",
+ "vitamin metabolic process",
+ "increased level of lipid",
+ "organic hydroxy compound metabolic process",
+ "lipid metabolic process",
+ "triol",
+ "cyclic compound",
+ "steroid",
+ "lipid level phenotype",
+ "Abnormality of vitamin metabolism",
+ "organism substance",
+ "decreased level of chemical entity in blood",
+ "blood monoatomic ion level phenotype",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "primary amide",
+ "elemental molecular entity",
+ "blood chemical entity level phenotype",
+ "hydroxy seco-steroid",
+ "hematopoietic system phenotype",
+ "monoatomic entity",
+ "subdivision of trunk",
+ "decreased functionality of the nephron tubule",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "heteroatomic molecular entity",
+ "excretory system",
+ "vitamin metabolic process phenotype",
+ "abdomen element phenotype",
+ "organic cyclic compound metabolic process",
+ "ion",
+ "biomacromolecule",
+ "p-block molecular entity",
+ "renal system physiology phenotype",
+ "pnictogen molecular entity",
+ "role blood serum level phenotype",
+ "trunk",
+ "chemical entity",
+ "amide",
+ "chemical entity level phenotype",
"trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "absent limb bone in the forelimb",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "subdivision of skeleton",
- "paired limb/fin phenotype",
- "Functional abnormality of the bladder",
- "decreased number of anatomical structure",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
+ "Abnormal urine amino acid level",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "Abnormality of the skeletal system",
+ "amino acid level phenotype",
+ "hydroxycalciol",
+ "Abnormality of the urinary system physiology",
+ "renal system phenotype",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "organic molecule",
+ "trunk region element physiology phenotype",
+ "homeostatic process phenotype",
+ "main group molecular entity",
+ "urine phosphate level phenotype",
+ "material anatomical entity physiology phenotype",
+ "polyatomic entity",
"decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "forelimb endochondral element",
- "tube",
- "interatrial septum morphology phenotype",
- "subdivision of tube phenotype",
- "Intestinal atresia",
- "All",
- "formed anatomical structure",
- "limb bone",
- "camera-type eye phenotype",
- "Decreased head circumference",
- "pectoral appendage skeleton",
- "absent mesoderm-derived structure in the forelimb",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "bone of pectoral complex morphology phenotype",
- "appendage phenotype",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "central nervous system cell part cluster",
- "ventricle of nervous system phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the pituitary gland",
- "Abnormal upper limb bone morphology",
- "brain white matter morphology phenotype",
- "independent continuant",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "decreased size of the skeletal element",
- "absent long bone",
- "pituitary gland",
- "irregular bone phenotype",
- "alimentary part of gastrointestinal system atresia",
- "decreased length of anatomical entity",
- "fused cervical vertebra and anatomical entity",
- "upper limb segment",
- "limb segment phenotype",
- "absent ectoderm-derived structure",
- "forelimb zeugopod phenotype",
- "vestibulo-auditory system phenotype",
- "gland physiology phenotype",
- "bone of pectoral complex",
- "forelimb zeugopod skeleton",
- "secretion by cell",
- "forelimb",
- "aplasia or hypoplasia of radius bone",
- "artery phenotype",
- "Abnormal metencephalon morphology",
- "paired limb/fin segment phenotype",
- "lamina",
- "compound organ",
- "cervical vertebra",
- "cerebral hemisphere gray matter",
- "forebrain phenotype",
- "absent material anatomical entity in the brain ventricle/choroid plexus",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "biological regulation",
- "mesoderm-derived structure physiology phenotype",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "Upper limb undergrowth",
- "duodenum morphology phenotype",
- "limb segment",
- "absent brain commissure",
- "decreased number of leukocyte",
- "tissue",
- "disconnected anatomical group",
- "endocrine gland morphology phenotype",
- "signaling",
- "subdivision of skeletal system",
- "gland phenotype",
- "Abnormal limb bone morphology",
- "absent bone of appendage girdle complex",
- "forelimb phenotype",
- "taxon specific phenotype",
- "Triangular face",
- "cerebral hemisphere white matter",
- "Abnormal cellular immune system morphology",
- "ear",
- "arm bone",
- "incomplete closing of the interatrial septum",
- "anatomical entity morphology in the brain phenotype",
- "autopodial extension phenotype",
- "interatrial septum perforation",
- "simple eye phenotype",
- "blood cell phenotype",
- "absent radius endochondral element in the forelimb",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "metencephalon morphology phenotype",
- "cardiac chamber phenotype",
- "photoreceptor array phenotype",
- "decreased length of limb endochondral element",
- "sensory perception of sound",
- "intestine morphology phenotype",
- "cardiac atrium phenotype",
- "cranial nerve II phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
+ "blood",
"mesoderm-derived structure",
- "Absent forearm bone",
+ "Abnormal urinary electrolyte concentration",
+ "phosphate level phenotype",
+ "Alkalemia",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate",
+ "lipid metabolic process phenotype",
+ "bone element mass density phenotype",
+ "amino acid",
+ "molecule",
+ "Growth abnormality",
+ "anatomical entity morphology phenotype",
+ "skeletal system phenotype",
+ "protein polypeptide chain",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "Abnormal homeostasis",
+ "organochalcogen compound",
+ "Increased susceptibility to fractures",
+ "skeletal element",
+ "cavitated compound organ",
+ "anatomical structure",
+ "Decreased glomerular filtration rate",
+ "musculature",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "musculoskeletal system phenotype",
+ "increased level of organic acid in urine",
+ "musculature of body",
+ "organic cyclic compound",
+ "Abnormal bone structure",
+ "blood serum chemical entity level phenotype",
"anatomical system",
- "anatomical structure morphology in the heart phenotype",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "decreased size of the autopod bone",
+ "lipid",
+ "material anatomical entity",
+ "Abnormal circulating protein concentration",
+ "increased level of parathyroid hormone in blood serum",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormality of the musculoskeletal system",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "phosphoric acid derivative",
+ "quality",
+ "carbon oxoacid",
+ "Reduced bone mineral density",
+ "increased level of parathyroid hormone in blood",
+ "hydroxy steroid",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "epithelial tube physiology phenotype",
+ "anatomical system phenotype",
"musculature phenotype",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Short long bone",
- "camera-type eye morphology phenotype",
- "Patent foramen ovale",
- "fused cervical vertebra and cervical vertebra",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the anatomical structure in the pectoral complex",
- "decreased size of the arm bone",
- "endocrine system",
- "systemic artery morphology phenotype",
- "Abnormal granulocyte morphology",
- "material anatomical entity atresia",
- "material entity",
- "leukocyte",
- "decreased functionality of the endoderm-derived structure",
- "endoderm-derived structure atresia",
- "external acoustic meatus",
- "subdivision of trunk phenotype",
- "retina",
- "decreased length of bone of appendage girdle complex",
- "decreased size of the bone of free limb or fin",
- "absent forelimb long bone in the forelimb",
- "regional part of nervous system phenotype",
- "subdivision of trunk",
- "increased biological_process",
- "decreased size of the bone of appendage girdle complex",
- "face morphology phenotype",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "Anemia",
- "absent multicellular anatomical structure in the forelimb",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
+ "hematopoietic system",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "protein-containing molecular entity",
+ "increased level of vitamin D",
+ "tissue phenotype",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "urine calcium atom level phenotype",
+ "process",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "organ physiology phenotype",
"main body axis",
- "musculature",
- "Abnormal facial shape",
- "viscus",
- "external ear",
- "circulatory organ phenotype",
- "decreased size of the endochondral bone",
- "musculature of body phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "molecular entity",
"anatomical conduit phenotype",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "cerebellum",
- "manual digit metacarpus endochondral element",
- "excretory system",
- "cardiac chamber",
- "number of anatomical enitites of type neutrophil phenotype",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "decreased length of skeletal element",
- "decreased vibrational conductance of sound to the inner ear",
- "pelvic region element phenotype",
- "camera-type eye physiology phenotype",
- "subdivision of organism along main body axis",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of tube atresia",
- "structure with developmental contribution from neural crest phenotype",
- "decreased length of anatomical structure",
- "absent forelimb bone in the limb",
- "cerebral hemisphere white matter morphology phenotype",
- "viscus phenotype",
- "Abnormality of the outer ear",
- "orbital region phenotype",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "metapodial skeleton",
- "musculoskeletal system physiology phenotype",
- "anatomical entity perforation",
- "decreased qualitatively embryo development",
- "closing of the material anatomical entity",
- "Abnormality of globe size",
- "absent anatomical structure in the skeletal system",
- "decreased size of the forelimb endochondral element",
- "decreased size of the gland",
- "signal release",
- "anatomical structure",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "absent bone element in the limb",
- "digitopodium region",
- "nitrogen compound transport phenotype",
- "anatomical entity",
- "interatrial septum",
- "phenotypic effect",
- "Vertebral fusion",
- "number of myeloid cell phenotype",
- "postcranial axial skeleton phenotype",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "number of anatomical enitites of type bone element phenotype",
- "export from cell phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "number of anatomical enitites of type brain commissure phenotype",
- "pectoral appendage",
- "bone element",
- "camera-type eye",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "Abnormal ear physiology",
- "Limb undergrowth",
- "decreased number of neutrophil",
- "biological_process rate phenotype",
- "fused anatomical entity and bony vertebral centrum",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "carboxamide",
+ "Generalized aminoaciduria",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
+ "lateral structure physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Osteopenia",
+ "Renal phosphate wasting",
+ "kidney physiology phenotype",
+ "increased blood serum base level",
+ "multicellular organismal process",
+ "organ part",
+ "multicellular anatomical structure",
"specifically dependent continuant",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "absent forelimb endochondral element",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "size of eyeball of camera-type eye phenotype",
- "thoracic segment organ",
- "Abnormal digit morphology",
+ "organ",
+ "occurrent",
+ "haemolymphatic fluid",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "carbohydrate",
+ "increased bodily fluid role level",
+ "biological_process",
+ "renal tubule",
+ "material entity",
+ "organic amino compound",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "genitourinary system phenotype",
+ "renal system",
+ "kidney epithelium phenotype",
"phenotype",
- "decreased length of bone element",
- "trunk phenotype",
- "absent endochondral element in the forelimb",
- "decreased functionality of the anatomical entity",
- "Abnormal growth hormone level",
- "absent mesoderm-derived structure in the limb",
- "incomplete closing of the artery",
- "Reduced circulating growth hormone concentration",
- "primary circulatory organ phenotype",
- "anatomical entity morphology in the heart phenotype",
- "ear physiology phenotype",
- "Abnormality of the gastrointestinal tract",
- "Abnormal atrial septum morphology",
- "Ventricular septal defect",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "eyeball of camera-type eye phenotype",
+ "anatomical entity mass density phenotype",
+ "Recurrent fractures",
+ "carbonyl compound",
+ "musculoskeletal system",
+ "fat-soluble vitamin metabolic process",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "organ system subdivision",
+ "Aminoaciduria",
+ "Abnormality of vitamin D metabolism",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "Abnormal circulating calcium-phosphate regulating hormone concentration",
+ "vitamin D metabolic process phenotype",
+ "seco-steroid",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "Abnormal circulating metabolite concentration",
+ "organic acid",
+ "ossification",
+ "calcium atom",
+ "increased blood serum role level",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "information biomacromolecule",
+ "blood parathyroid hormone level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "role blood level phenotype",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "Abnormal metabolism",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
+ "lateral structure",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "blood oxygen molecular entity level phenotype",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "organic molecular entity",
+ "epithelium",
+ "decreased functionality of the tube",
+ "Bone pain",
+ "Abnormality of the upper urinary tract",
+ "tube phenotype",
+ "increased bodily fluid base level",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "decreased size of the material anatomical entity",
+ "biological_process phenotype",
+ "abdominal segment element phenotype",
+ "Constitutional symptom",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "Abnormal circulating hormone concentration",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal skeletal morphology",
+ "musculoskeletal system physiology phenotype",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "epithelial tube",
+ "tube",
+ "abdominal segment of trunk",
+ "urine amino acid level phenotype",
+ "abdomen",
+ "decreased level of chemical entity",
+ "Abnormal urine carboxylic acid level",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
+ "excretory tube",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "Abnormal musculoskeletal physiology",
+ "anatomical entity dysfunction in independent continuant",
+ "Proximal tubulopathy",
+ "organism subdivision",
+ "D3 vitamins",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "upper urinary tract phenotype",
+ "excretory tube phenotype",
+ "Abnormality of urine homeostasis",
+ "upper urinary tract",
+ "kidney",
+ "hemolymphoid system",
+ "Rickets",
+ "role urine level phenotype",
+ "carboxylic acid",
+ "decreased functionality of the epithelial tube",
+ "bone element phenotype",
+ "Abnormal urine pH",
+ "organic substance metabolic process",
+ "High serum calcitriol",
+ "increased level of chemical entity",
+ "increased urine role level",
+ "hydroxides",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "heteroorganic entity",
+ "organooxygen compound",
+ "Abnormal urine phosphate concentration",
+ "increased level of carboxylic acid in urine",
+ "excreta",
+ "organic oxo compound",
+ "multicellular organism morphology phenotype",
+ "Abnormal urine metabolite level",
+ "nitrogen molecular entity",
+ "urine chemical entity level phenotype",
+ "oxygen molecular entity",
+ "carbon group molecular entity",
+ "organic polycyclic compound",
+ "Abnormal renal physiology",
+ "chalcogen molecular entity",
+ "Organic aciduria",
+ "Elevated urinary carboxylic acid",
+ "metabolic process phenotype",
+ "compound organ phenotype",
+ "increased level of amino acid in urine",
+ "increased level of chemical entity in urine",
+ "vitamin D level phenotype",
+ "increased level of chemical entity in bodily fluid",
+ "increased level of chemical entity in blood plasma",
+ "s-block molecular entity"
+ ],
+ "has_phenotype_count": 17,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0024525",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 1",
+ "full_name": null,
+ "deprecated": null,
+ "description": null,
+ "xref": [
+ "DOID:0080757",
+ "MEDGEN:1635492",
+ "OMIM:134600",
+ "UMLS:C4551503"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0002749",
+ "HP:0001942",
+ "HP:0003648",
+ "HP:0003155",
+ "HP:0002148",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0002900",
+ "HP:0002748",
+ "HP:0034359",
+ "HP:0003076",
+ "HP:0000083",
+ "HP:0003355",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324"
+ ],
+ "has_phenotype_label": [
+ "Osteomalacia",
+ "Metabolic acidosis",
+ "Lacticaciduria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Hypokalemia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Renal insufficiency",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness"
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0002359",
+ "HP:0003011",
+ "UPHENO:0080555",
+ "HP:0001324",
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+ "UPHENO:0001003",
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+ "UPHENO:0066939",
+ "UBERON:0002204",
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+ "UPHENO:0068110",
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+ "CHEBI:36080",
+ "UBERON:0006314",
+ "HP:0000118",
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+ "UPHENO:0034199",
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+ "UPHENO:0034351",
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+ "CHEBI:33579",
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+ "CHEBI:59999",
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+ "HP:0000083",
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+ "HP:0032180",
+ "CHEBI:33318",
+ "CHEBI:24431",
+ "HP:0003111",
+ "CHEBI:33241",
+ "BFO:0000001",
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+ "HP:0040156",
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+ "CHEBI:26020",
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+ "HP:0003648",
+ "HP:0001941",
+ "UPHENO:0051804",
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+ "UPHENO:0075902",
+ "HP:0001507",
+ "CHEBI:37577",
+ "HP:0001510",
+ "HP:0003109",
+ "HP:0034684",
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+ "CHEBI:16646",
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+ "UBERON:0011676",
+ "UBERON:0009569",
+ "HP:0000002",
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+ "UBERON:0010000",
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+ "UPHENO:0066943",
+ "HP:0004322",
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+ "CHEBI:26216",
+ "UPHENO:0082875",
+ "CHEBI:28358",
+ "UBERON:0002100",
+ "UBERON:0001474",
+ "UPHENO:0003430",
+ "UPHENO:0002360",
+ "UPHENO:0024906",
+ "CHEBI:17234",
+ "UPHENO:0066946",
+ "CHEBI:24870",
+ "UPHENO:0003941",
+ "UPHENO:0002377",
+ "UPHENO:0002754",
+ "UBERON:0004819",
+ "UPHENO:0003094",
+ "HP:0012591",
+ "UPHENO:0066925",
+ "UPHENO:0002816",
+ "UBERON:0011143",
+ "UPHENO:0002248",
+ "UBERON:0000916",
+ "UPHENO:0002386",
+ "PR:000003968",
+ "UBERON:0000479",
+ "UPHENO:0051686",
+ "CHEBI:36915",
+ "UPHENO:0066959",
+ "UPHENO:0066913",
+ "UBERON:0000475",
+ "UBERON:0013701",
+ "UBERON:0001285",
+ "HP:0012599",
+ "UPHENO:0005201",
+ "HP:0010929",
+ "UPHENO:0081547",
+ "UBERON:0002113",
+ "CHEBI:33250",
+ "CHEBI:33559",
+ "UPHENO:0051645",
+ "CHEBI:36914",
+ "UPHENO:0079822",
+ "UBERON:0000061",
+ "CHEBI:36916"
+ ],
+ "has_phenotype_closure_label": [
+ "decreased muscle organ strength",
+ "muscle structure physiology phenotype",
+ "muscle structure phenotype",
+ "Abnormality of the musculature",
+ "muscle organ physiology phenotype",
+ "muscle organ",
+ "increased level of protein polypeptide chain in urine",
+ "peptide",
+ "Abnormal urine protein level",
+ "Low-molecular-weight proteinuria",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the anatomical structure",
+ "growth",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "Growth delay",
+ "delayed growth",
"multicellular organism phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "number of cell phenotype",
- "Atrial septal defect",
- "radius endochondral element",
- "septum phenotype",
- "appendicular skeletal system",
- "decreased number of anatomical entity",
- "reproductive structure",
- "Abnormal heart morphology",
- "sense organ phenotype",
- "decreased size of the bone of pectoral complex",
- "organ system subdivision",
- "postcranial axial skeleton",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "multicellular anatomical structure phenotype",
- "head",
- "Abnormal cardiovascular system morphology",
- "shape kidney",
- "decreased size of the limb long bone",
- "cardiac septum phenotype",
- "multi organ part structure phenotype",
- "skeletal element",
- "decreased size of the material anatomical entity in the pectoral complex",
- "Abnormal diencephalon morphology",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "subdivision of head",
- "Abnormality of body weight",
- "developmental process rate phenotype",
- "hormone transport",
- "septum",
- "forelimb long bone phenotype",
- "Abnormal cardiac septum morphology",
- "eye phenotype",
- "organ",
- "regulation of biological quality phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "Duodenal atresia",
- "absent nervous system commissure",
- "digestive system element phenotype",
- "organ part phenotype",
- "absent endochondral element in the limb",
- "segment of manus",
- "Abnormality of thumb phalanx",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "body proper",
- "anatomical entity phenotype",
- "Abnormality of the ureter",
- "organism subdivision phenotype",
- "heart plus pericardium",
- "Abnormal cardiac atrium morphology",
- "Abnormal cellular phenotype",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "Abnormal localization of kidney",
- "arm bone phenotype",
- "head phenotype",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "fused vertebra and anatomical entity",
- "metapodium region",
- "anatomical collection",
- "subdivision of skeletal system phenotype",
- "Abnormality of the bladder",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "continuant",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "compound organ phenotype",
- "organ phenotype",
- "decreased length of forelimb zeugopod bone",
- "heart morphology phenotype",
- "segmental subdivision of nervous system",
- "programmed DNA elimination by chromosome breakage",
- "thoracic cavity element phenotype",
- "craniofacial/craniocervical phenotype",
- "heart",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "anatomical system phenotype",
- "Eukaryota",
- "Abnormality of the digestive system",
- "decreased functionality of the gland",
- "forelimb skeleton phenotype",
- "Abnormality of the thyroid gland",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
"decreased size of the multicellular anatomical structure",
- "structure with developmental contribution from neural crest physiology phenotype",
- "increased pigmentation",
- "Abnormal cell morphology",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "nervous system process phenotype",
- "neck phenotype",
- "opening of the anatomical entity",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "incomplete closing of the cardiac septum",
- "neuron projection bundle phenotype",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ part",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "Abnormality of the immune system",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "Aplasia/Hypoplasia affecting the fundus",
- "absent lamina",
- "regulation of cellular metabolic process",
- "blood cell",
- "septum of telencephalon",
- "cornea, curved phenotype",
- "orbital region",
- "musculoskeletal system",
- "decreased qualitatively sensory perception",
- "agenesis of anatomical entity",
- "circulatory organ",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "Abnormality of neutrophils",
- "trunk region element phenotype",
- "decreased number of hematopoietic cell",
- "organism substance",
- "decreased length of multicellular anatomical structure",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "digit",
- "Abnormal eye physiology",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "white matter of telencephalon phenotype",
- "trunk",
- "Hypothyroidism",
- "hematopoietic system phenotype",
- "metencephalon phenotype",
- "organ component layer phenotype",
- "skeletal system",
- "appendicular skeleton",
- "number of leukocyte phenotype",
- "decreased number of material anatomical entity",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "primary circulatory organ",
+ "s-block molecular entity",
+ "molecule",
+ "amino acid level phenotype",
+ "Elevated urinary carboxylic acid",
+ "Organic aciduria",
+ "Abnormal urine amino acid level",
+ "hydroxides",
+ "organic molecule",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "carbonyl compound",
+ "carboxylic acid",
+ "urine amino acid level phenotype",
+ "Renal insufficiency",
+ "aldohexose",
+ "hexose",
+ "Abnormal urinary organic compound level",
+ "aldose",
+ "glucose",
+ "organooxygen compound",
+ "monosaccharide",
+ "urine glucose level phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal absorption",
+ "renal absorption phenotype",
+ "Abnormality of renal excretion",
+ "renal system process",
+ "cation",
+ "inorganic ion",
+ "decreased level of potassium atom in blood",
+ "carbon oxoacid",
+ "Abnormal blood potassium concentration",
+ "role bodily fluid level phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "potassium atom level phenotype",
+ "Hypophosphatemia",
+ "monoatomic ion",
+ "protein",
+ "macromolecule",
+ "organic molecular entity",
+ "kidney phenotype",
+ "cavitated compound organ physiology phenotype",
+ "pnictogen molecular entity",
+ "Abnormal urine metabolite level",
+ "multicellular organism morphology phenotype",
+ "heteroatomic molecular entity",
+ "tube phenotype",
+ "increased level of glucose in urine",
+ "blood phosphate level phenotype",
+ "nitrogen molecular entity level phenotype",
+ "body proper",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "organic amino compound",
+ "material entity",
+ "Abnormality of alkaline phosphatase level",
+ "excretory system",
+ "abdomen element phenotype",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "nephron epithelium",
+ "increased level of monosaccharide in urine",
+ "anatomical conduit physiology phenotype",
+ "polyatomic entity",
+ "racemate",
+ "renal system physiology phenotype",
+ "rac-lactic acid",
+ "amide",
+ "chemical entity level phenotype",
+ "trunk region element",
+ "chemical substance",
+ "organic oxo compound",
+ "excreta",
+ "Abnormality of the urinary system",
+ "Aciduria",
+ "renal system phenotype",
+ "metal atom",
+ "Abnormality of the urinary system physiology",
+ "increased level of chemical entity in urine",
+ "increased urine role level",
+ "decreased anatomical entity strength",
+ "mixture",
+ "epithelial tube",
+ "Abnormality of acid-base homeostasis",
+ "tube",
+ "Metabolic acidosis",
+ "chemical entity",
+ "Short stature",
+ "inorganic molecular entity",
+ "Acidosis",
+ "upper urinary tract phenotype",
+ "increased level of chemical entity",
+ "inorganic cation",
+ "alkali metal atom",
+ "bone element mass density phenotype",
+ "Abnormal blood cation concentration",
"Growth abnormality",
- "Functional abnormality of the middle ear",
- "neutrophil",
- "cell phenotype",
- "ectoderm-derived structure physiology phenotype",
- "Conductive hearing impairment",
- "sensory system",
- "number of anatomical enitites of type granulocyte phenotype",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
+ "anatomical entity morphology phenotype",
+ "Abnormal skeletal morphology",
+ "skeletal system phenotype",
+ "carbon group molecular entity",
+ "main group molecular entity",
+ "Elevated circulating alkaline phosphatase concentration",
+ "protein polypeptide chain",
"system process phenotype",
- "decreased height of the anatomical entity",
- "Abnormal ventricular septum morphology",
- "motile cell",
- "decreased size of the digit",
- "manual digit 1 phalanx endochondral element",
- "eukaryotic cell",
- "cardiac atrium morphology phenotype",
- "bone cell",
- "visual system phenotype",
- "hemolymphoid system",
- "myeloid leukocyte",
- "nucleate cell",
- "endochondral element",
+ "continuant",
+ "amino acid chain",
+ "anatomical system physiology phenotype",
+ "tissue",
+ "nephron",
+ "skeletal element",
+ "cavitated compound organ",
+ "mesoderm-derived structure",
+ "Abnormal urinary electrolyte concentration",
+ "muscle organ phenotype",
+ "anatomical structure",
+ "polypeptide",
+ "Abnormality of bone mineral density",
+ "anatomical conduit",
+ "Abnormal muscle physiology",
+ "organochalcogen compound",
+ "Abnormal homeostasis",
+ "Abnormal enzyme concentration or activity",
+ "oxygen molecular entity",
+ "urine chemical entity level phenotype",
"Abnormality of the musculoskeletal system",
- "Abnormal myeloid cell morphology",
- "Abnormal neutrophil count",
- "number of anatomical enitites of type axon tract phenotype",
- "Neutropenia",
- "zeugopod",
- "white matter of telencephalon",
- "incomplete closing of the anatomical entity",
- "photoreceptor array",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "export from cell",
- "axon tract morphology phenotype",
- "immune system phenotype",
- "gland morphology phenotype",
- "head morphology phenotype",
- "cell",
- "Abnormal musculoskeletal physiology",
- "Abnormal morphology of the radius",
- "decreased number of myeloid cell",
- "entire sense organ system",
- "organ subunit",
- "absent forelimb long bone",
- "retina morphology phenotype",
- "craniocervical region",
- "regulation of cellular process",
+ "musculature of body",
+ "Abnormal bone structure",
+ "anatomical system",
+ "role urine level phenotype",
+ "muscle structure",
+ "material anatomical entity",
+ "entity",
+ "metabolic process",
+ "Decreased anatomical entity mass density",
+ "taxon specific phenotype",
+ "Abnormal blood ion concentration",
+ "multicellular organismal process phenotype",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "main group element atom",
+ "Abnormal renal tubular resorption",
+ "renal/urinary system phenotype",
+ "anatomical entity",
+ "p-block molecular entity",
+ "biomacromolecule",
+ "Hypokalemia",
+ "anatomical structure phenotype",
+ "Abnormality of the genitourinary system",
+ "Reduced bone mineral density",
+ "renal tubule phenotype",
+ "nephron tubule phenotype",
+ "Abnormality of the skeletal system",
+ "Impaired renal tubular reabsorption of phosphate",
"hematopoietic system",
- "cerebral hemisphere morphology phenotype",
- "material anatomical entity physiology phenotype",
- "Abnormality of refraction",
- "incomplete closing of the multicellular anatomical structure",
- "multi cell part structure phenotype",
- "decreased length of neck",
- "white matter of forebrain",
- "decreased size of the gland of diencephalon",
- "absent material anatomical entity",
+ "multicellular organism",
+ "abdominal segment element physiology phenotype",
+ "protein-containing molecular entity",
+ "tissue phenotype",
+ "Aminoaciduria",
+ "organ system subdivision",
+ "Abnormal circulating enzyme concentration or activity",
+ "organism subdivision",
+ "urine",
+ "delayed biological_process",
+ "oxoacid",
+ "Osteomalacia",
+ "process",
+ "bone element",
"mesoderm-derived structure phenotype",
- "pituitary gland morphology phenotype",
- "absent organism subdivision",
- "anterior region of body",
- "Abnormality of the orbital region",
- "simple eye physiology phenotype",
- "neck",
- "craniocervical region phenotype",
- "Myopia",
- "diencephalon",
+ "Lacticaciduria",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity physiology phenotype",
+ "increased level of carboxylic acid in urine",
+ "Abnormal urine phosphate concentration",
+ "carboxamide",
+ "multicellular organism chemical entity level phenotype",
+ "skeletal system",
"lateral structure physiology phenotype",
- "hindbrain morphology phenotype",
- "subdivision of vertebral column phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manual digit 1 or 5",
- "eye physiology phenotype",
- "erythrocyte morphology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "decreased size of the anatomical entity",
+ "blood",
+ "heteroorganic entity",
+ "multicellular organismal process",
+ "Muscle weakness",
+ "organ part",
+ "multicellular anatomical structure",
+ "specifically dependent continuant",
+ "organ",
+ "occurrent",
+ "All",
+ "decreased size of the multicellular organism",
+ "Decreased bone element mass density",
+ "genitourinary system",
+ "multicellular anatomical structure physiology phenotype",
+ "anatomical entity height phenotype",
+ "atom",
+ "carbohydrate",
+ "biological_process",
+ "renal tubule",
+ "nitrogen molecular entity",
+ "renal system",
+ "kidney epithelium phenotype",
+ "phenotype",
+ "anatomical entity mass density phenotype",
+ "epithelial tube physiology phenotype",
+ "potassium atom",
+ "musculoskeletal system",
+ "hydrogen molecular entity",
+ "nephron tubule",
+ "anatomical entity phenotype",
+ "organonitrogen compound",
+ "independent continuant",
+ "skeletal element phenotype",
+ "organ phenotype",
+ "bodily fluid",
+ "material anatomical entity phenotype",
+ "skeletal system morphology phenotype",
+ "subdivision of organism along main body axis",
+ "excretory tube phenotype",
+ "upper urinary tract",
+ "Abnormality of urine homeostasis",
+ "decreased functionality of the kidney epithelium",
+ "Phenotypic abnormality",
+ "Hyperphosphaturia",
+ "homeostatic process phenotype",
+ "trunk region element physiology phenotype",
+ "material anatomical entity physiology phenotype",
+ "urine phosphate level phenotype",
+ "Glycosuria",
+ "Abnormal bone ossification",
+ "abdominal segment element",
+ "information biomacromolecule",
+ "decreased size of the material anatomical entity",
+ "abdominal segment element phenotype",
+ "biological_process phenotype",
+ "organic acid",
+ "ossification",
+ "Abnormal circulating metabolite concentration",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "organ physiology phenotype",
+ "main body axis",
+ "organism substance",
+ "Rickets",
+ "hemolymphoid system",
+ "Abnormal urine pH",
+ "bone element phenotype",
+ "decreased functionality of the epithelial tube",
+ "haemolymphatic fluid",
+ "phosphate",
+ "primary amide",
+ "elemental molecular entity",
+ "ion",
+ "increased level of rac-lactic acid in urine",
+ "blood chemical entity level phenotype",
+ "blood potassium atom level phenotype",
+ "hematopoietic system phenotype",
+ "quality",
+ "phosphoric acid derivative",
+ "Abnormal urine carboxylic acid level",
+ "system process",
+ "decreased level of chemical entity",
+ "decreased level of chemical entity in blood",
+ "genitourinary system phenotype",
+ "decreased level of phosphate in blood",
+ "phosphorus oxoacid derivative",
+ "phosphorus molecular entity",
+ "tissue physiology phenotype",
+ "trunk",
+ "Proteinuria",
+ "protein-containing material entity",
+ "phosphate level phenotype",
+ "blood cation level phenotype",
+ "blood monoatomic ion level phenotype",
+ "molecular entity",
+ "Abnormality of blood and blood-forming tissues",
+ "monoatomic entity",
+ "subdivision of trunk",
+ "decreased functionality of the nephron tubule",
+ "chalcogen molecular entity",
+ "Abnormal renal physiology",
+ "kidney physiology phenotype",
+ "organ system subdivision phenotype",
+ "epithelium phenotype",
"lateral structure",
- "ectoderm-derived structure",
- "number of platelet phenotype",
- "granulocyte",
- "Morphological central nervous system abnormality",
- "visual system",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "anatomical structure physiology phenotype",
- "nervous system morphology phenotype",
- "Abnormality of joint mobility",
- "metapodium bone phenotype",
- "arm",
- "skeleton of limb phenotype",
- "Short forearm",
- "growth phenotype",
- "sensory perception of mechanical stimulus",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "decreased functionality of the excretory tube",
+ "abdomen element",
+ "epithelium physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "epithelium",
+ "decreased functionality of the tube",
"Abnormality of the upper urinary tract",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "immune system morphology phenotype",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "Abnormal small intestine morphology",
- "Abnormal granulocyte count",
- "absent mesoderm-derived structure",
- "Abnormal anterior eye segment morphology",
- "fused anatomical entity and cervical vertebra",
+ "tube physiology phenotype",
+ "cavitated compound organ phenotype",
+ "Renal tubular dysfunction",
+ "decreased functionality of the renal tubule",
+ "anatomical structure physiology phenotype",
+ "abdomen element physiology phenotype",
+ "homeostatic process",
+ "excretory tube physiology phenotype",
+ "decreased functionality of the tissue",
+ "Abnormal blood phosphate concentration",
+ "phosphorus oxoacids and derivatives",
+ "kidney epithelium",
+ "compound organ",
+ "abdominal segment of trunk",
+ "abdomen",
+ "increased level of amino acid in urine",
+ "compound organ phenotype",
+ "decreased functionality of the anatomical conduit",
+ "trunk region element phenotype",
+ "decreased functionality of the anatomical structure",
+ "Abnormality of the kidney",
"excretory tube",
- "absent limb endochondral element in the limb",
- "erythrocyte",
- "artery",
- "cardiac septum",
- "absent endochondral bone",
- "absent anatomical structure in the limb",
- "serotonin secreting cell",
- "lamina phenotype",
- "Thrombocytopenia",
- "platelet",
- "Abnormal platelet morphology",
- "non-connected functional system",
- "decreased number of granulocyte",
- "platelet phenotype",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "secretory cell",
+ "decreased functionality of the multicellular anatomical structure",
+ "uriniferous tubule",
+ "epithelial tube phenotype",
+ "renal system process phenotype",
"anatomical entity dysfunction in independent continuant",
- "Abnormal platelet count",
- "multicellular organism development",
- "structure with developmental contribution from neural crest, curved phenotype",
- "endocrine gland physiology phenotype",
- "establishment of localization phenotype",
- "Chromosome breakage",
- "Abnormality of thrombocytes",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal circulating hormone concentration",
- "regional part of brain",
- "manual digit plus metapodial segment",
- "absent multi cell part structure",
- "Aplasia/Hypoplasia of fingers",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased length of forelimb long bone",
- "decreased length of manual digit 1 or 5",
- "manual digit 1 plus metapodial segment",
- "digit 1 phenotype",
- "digit 1",
- "sensory perception of mechanical stimulus phenotype",
- "absent anatomical entity in the brain ventricle/choroid plexus",
- "decreased size of the autopodial extension",
- "upper urinary tract phenotype",
- "regulation of cellular metabolic process phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "manual digit morphology in the manus phenotype",
- "absent tissue in the multicellular organism",
- "manus",
- "Abnormal hand morphology",
- "absent material anatomical entity in the brain",
- "Abnormality of metabolism/homeostasis",
- "acropodial skeleton",
+ "nephron epithelium phenotype",
+ "decreased functionality of the epithelium",
+ "decreased functionality of the nephron epithelium",
+ "kidney",
+ "oxoacid derivative",
+ "compound organ physiology phenotype",
+ "increased level of phosphate in urine",
+ "anatomical conduit phenotype",
+ "blood monovalent inorganic cation level phenotype",
+ "s-block element atom",
+ "musculature",
+ "decreased role blood level",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "role blood level phenotype",
+ "monovalent inorganic cation"
+ ],
+ "has_phenotype_count": 16,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0100238",
+ "category": "biolink:Disease",
+ "name": "inherited Fanconi renotubular syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "An instance of Fanconi renotubular syndrome that is inherited.",
+ "xref": ["OMIMPS:134600"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": ["hereditary Fanconi renotubular syndrome"],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "HP:0001994",
+ "category": "biolink:PhenotypicFeature",
+ "name": "Renal Fanconi syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": null,
+ "xref": null,
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "De toni-fanconi-debre syndrome",
+ "Renal tubular fanconi syndrome"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "HP",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0011584",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group D1",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",
+ "xref": [
+ "DOID:0111089",
+ "GARD:17449",
+ "MEDGEN:325420",
+ "MESH:C563980",
+ "NCIT:C125705",
+ "OMIM:605724",
+ "Orphanet:319462",
+ "SCTID:766707003",
+ "UMLS:C1838457"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FAD1",
+ "FANCD1",
+ "Fad1",
+ "Fanconi anemia complementation group D1",
+ "Fanconi anemia, complementation group D1",
+ "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0000252",
+ "HP:0004808",
+ "HP:0009778",
+ "HP:0005528",
+ "HP:0001511",
+ "HP:0000957",
+ "HP:0003221",
+ "HP:0001508",
+ "HP:0004322",
+ "HP:0006727",
+ "HP:0002023"
+ ],
+ "has_phenotype_label": [
+ "Microcephaly",
+ "Acute myeloid leukemia",
"Short thumb",
- "Abnormality of the hand",
- "skull",
- "skeleton of manus",
- "vertebra morphology phenotype",
- "Abnormal finger morphology",
- "decreased length of limb long bone",
- "aplasia or hypoplasia of manual digit",
- "autopodial extension",
- "commissure of telencephalon",
- "formed cerebellum",
- "absent organ in the forelimb",
- "decreased functionality of the material anatomical entity",
- "Short digit",
- "autopod region morphology phenotype",
- "autopod region phenotype",
+ "Bone marrow hypocellularity",
+ "Intrauterine growth retardation",
+ "Cafe-au-lait spot",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Failure to thrive",
+ "Short stature",
+ "T-cell acute lymphoblastic leukemias",
+ "Anal atresia"
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0086644",
+ "HP:0004378",
+ "HP:0002023",
+ "UPHENO:0063599",
+ "UPHENO:0074227",
+ "UBERON:0001245",
+ "UPHENO:0074229",
+ "UBERON:0000025",
+ "UBERON:0000161",
+ "UPHENO:0076803",
+ "HP:0025031",
+ "UPHENO:0002812",
+ "UPHENO:0074230",
+ "UPHENO:0074245",
+ "UPHENO:0074228",
+ "UPHENO:0002668",
+ "HP:0000002",
+ "UPHENO:0081424",
+ "UPHENO:0080351",
+ "UPHENO:0010799",
+ "UPHENO:0054374",
+ "UPHENO:0010763",
+ "HP:0004325",
+ "UPHENO:0010808",
+ "UPHENO:0002949",
+ "HP:0001508",
+ "UPHENO:0010795",
+ "UPHENO:0082761",
+ "GO:0005623",
+ "UPHENO:0050007",
+ "HP:0025033",
+ "UPHENO:0049775",
+ "HP:0001939",
+ "GO:0010468",
+ "GO:0031327",
+ "UPHENO:0049904",
+ "GO:0050794",
+ "GO:0019222",
+ "GO:0048519",
+ "GO:0065007",
+ "GO:0008152",
+ "GO:0060255",
+ "GO:0048523",
+ "UPHENO:0050025",
+ "UPHENO:0049620",
+ "UPHENO:0050435",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0031049",
+ "GO:0031052",
+ "GO:0009890",
+ "GO:0031324",
+ "HP:0003221",
+ "GO:0010629",
+ "UPHENO:0050778",
+ "HP:0001034",
+ "HP:0011121",
+ "HP:0000953",
+ "GO:0043473",
+ "HP:0001574",
+ "UPHENO:0049757",
+ "HP:0000957",
+ "UPHENO:0080662",
+ "HP:0000951",
+ "UBERON:0002097",
+ "UBERON:0002416",
+ "UPHENO:0002635",
+ "UPHENO:0052160",
+ "HP:0006721",
+ "UPHENO:0049642",
+ "UPHENO:0050106",
+ "UPHENO:0053456",
+ "GO:0009790",
+ "UPHENO:0082794",
+ "GO:0032501",
+ "UPHENO:0049874",
+ "BFO:0000015",
+ "UPHENO:0005647",
+ "HP:0001510",
+ "HP:0001507",
+ "BFO:0000003",
+ "UPHENO:0080382",
+ "HP:0011355",
+ "UPHENO:0005573",
+ "UPHENO:0005597",
+ "UPHENO:0005642",
+ "UPHENO:0050034",
+ "UPHENO:0003811",
+ "GO:0048856",
+ "HP:0034915",
+ "GO:0007275",
+ "UPHENO:0000541",
+ "UPHENO:0000543",
+ "HP:0001511",
+ "UBERON:0001007",
+ "UBERON:0000479",
+ "CL:0002092",
+ "UBERON:0002371",
+ "HP:0005528",
+ "UPHENO:0080393",
+ "HP:0012145",
+ "GO:0010556",
+ "PR:000050567",
+ "UPHENO:0050068",
+ "HP:0011297",
+ "UPHENO:0002944",
+ "UPHENO:0012308",
+ "UPHENO:0046411",
+ "HP:0012733",
+ "UPHENO:0046445",
+ "HP:0007400",
+ "UPHENO:0069236",
+ "HP:0001155",
+ "UPHENO:0079876",
+ "UPHENO:0086700",
+ "UPHENO:0084763",
+ "HP:0045060",
+ "UPHENO:0063581",
+ "UPHENO:0086633",
+ "UBERON:0001474",
+ "UPHENO:0052694",
+ "UBERON:0006058",
+ "UBERON:5002389",
+ "UBERON:5006048",
+ "UBERON:0002544",
+ "HP:0040068",
+ "CL:0002242",
+ "HP:0032251",
+ "HP:0004377",
+ "HP:0010987",
+ "HP:0000924",
+ "UPHENO:0074237",
+ "GO:0032502",
+ "UBERON:0001440",
+ "UPHENO:0069254",
+ "UPHENO:0075220",
+ "UPHENO:0088186",
+ "HP:0009815",
+ "UBERON:0000075",
+ "UPHENO:0063562",
+ "CL:0002191",
+ "UPHENO:0046624",
+ "UPHENO:0005431",
+ "UBERON:0000475",
+ "HP:0000240",
+ "HP:0004323",
+ "UPHENO:0046741",
+ "RO:0002577",
+ "UBERON:0000073",
+ "HP:0000929",
+ "UBERON:0000955",
+ "UPHENO:0063565",
+ "UBERON:0010912",
+ "UPHENO:0052178",
+ "UBERON:0011582",
+ "UPHENO:0054970",
+ "UBERON:0002616",
+ "PATO:0000001",
+ "UBERON:0011249",
+ "UPHENO:0075804",
+ "UPHENO:0075195",
+ "HP:0005561",
+ "UBERON:0000153",
+ "UPHENO:0002902",
+ "UPHENO:0002839",
+ "UPHENO:0050126",
+ "UPHENO:0069684",
+ "UPHENO:0002896",
+ "UPHENO:0005596",
+ "UBERON:0002204",
+ "UPHENO:0010850",
+ "UPHENO:0049743",
+ "UPHENO:0001002",
+ "BFO:0000004",
+ "HP:0002813",
+ "UBERON:0013702",
+ "UPHENO:0050008",
+ "UPHENO:0087518",
+ "OBI:0100026",
+ "UBERON:0002091",
+ "UPHENO:0002733",
+ "HP:0001881",
+ "HP:0002817",
+ "GO:0050789",
+ "UBERON:0013701",
+ "UPHENO:0074584",
+ "BFO:0000040",
+ "NCBITaxon:33154",
+ "UBERON:0006048",
+ "UPHENO:0002736",
+ "UPHENO:0053330",
+ "HP:0011842",
+ "HP:0006265",
+ "GO:0009889",
+ "UPHENO:0002548",
+ "HP:0000234",
+ "UPHENO:0005433",
+ "UPHENO:0080114",
+ "HP:0001000",
+ "UBERON:0012354",
+ "UBERON:0001893",
+ "UBERON:0004375",
+ "UPHENO:0002530",
+ "NCBITaxon:1",
+ "UPHENO:0087907",
+ "UBERON:0000033",
+ "HP:0025354",
+ "UPHENO:0003025",
+ "UBERON:0034923",
+ "UPHENO:0050108",
+ "UBERON:0004288",
+ "HP:0002715",
+ "UPHENO:0046505",
+ "UPHENO:0012440",
+ "HP:0040195",
+ "UPHENO:0002816",
+ "UPHENO:0054315",
+ "UPHENO:3000000",
+ "HP:0009121",
+ "UPHENO:0086589",
+ "UPHENO:0076791",
+ "UPHENO:0001001",
+ "UBERON:0001015",
+ "UPHENO:0049868",
+ "UPHENO:0003082",
+ "HP:0000118",
+ "GO:0008150",
+ "UPHENO:0003049",
+ "HP:0040012",
+ "UBERON:0004765",
+ "UBERON:0000467",
+ "UBERON:0011216",
+ "HP:0005922",
+ "UPHENO:0050784",
+ "UPHENO:0076739",
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+ "UPHENO:0080099",
+ "UBERON:0000468",
+ "UBERON:0001463",
+ "UPHENO:0002525",
+ "UPHENO:0002870",
+ "HP:0012443",
+ "UPHENO:0002553",
+ "UPHENO:0074575",
+ "HP:0002011",
+ "UPHENO:0003004",
+ "UPHENO:0003095",
+ "UBERON:0000383",
+ "UPHENO:0004523",
+ "UBERON:0010758",
+ "UPHENO:0046740",
+ "HP:0025461",
+ "UPHENO:0069674",
+ "UPHENO:0076805",
+ "UPHENO:0003001",
+ "CL:0000255",
+ "GO:0010558",
+ "UBERON:0008785",
+ "UBERON:0007811",
+ "UPHENO:0012312",
+ "UBERON:0010363",
+ "HP:0002977",
+ "UBERON:0019221",
+ "UPHENO:0046750",
+ "UBERON:0000062",
+ "UPHENO:0080377",
+ "UBERON:0001016",
+ "UBERON:0001017",
+ "UPHENO:0002586",
+ "UBERON:0011676",
+ "UPHENO:0076740",
+ "UPHENO:0076703",
+ "UPHENO:0002554",
+ "BFO:0000001",
+ "UPHENO:0088166",
+ "HP:0000152",
+ "UPHENO:0080126",
+ "UPHENO:0076799",
+ "UBERON:0000481",
+ "GO:0042592",
+ "UBERON:0034925",
+ "UBERON:0005944",
+ "UPHENO:0084761",
+ "UBERON:0001890",
+ "UPHENO:0080200",
+ "NCBITaxon:6072",
+ "GO:0009892",
+ "GO:0010605",
+ "HP:0011844",
+ "UPHENO:0080079",
+ "CL:0000219",
+ "CL:0002031",
+ "HP:0000252",
+ "UBERON:0012475",
+ "HP:0011793",
+ "UBERON:0004121",
+ "UBERON:0010740",
+ "UPHENO:0076702",
+ "UPHENO:0078606",
+ "HP:0002664",
+ "HP:0002488",
+ "UBERON:0011137",
+ "UPHENO:0002963",
+ "UBERON:0001555",
+ "BFO:0000020",
+ "UPHENO:0002945",
+ "CL:0000835",
+ "UBERON:0000465",
+ "HP:0002060",
+ "CL:0000988",
+ "UPHENO:0002764",
+ "UBERON:0002199",
+ "UBERON:0002193",
+ "UBERON:0010000",
+ "UBERON:0002390",
+ "CL:0000839",
+ "CL:0000000",
+ "UPHENO:0063596",
+ "UBERON:0004120",
+ "UPHENO:0050065",
+ "UPHENO:0002861",
+ "UPHENO:0002964",
+ "UBERON:0002101",
+ "UBERON:0010707",
+ "CL:0011115",
+ "HP:0001871",
+ "UBERON:0002470",
+ "UPHENO:0081423",
+ "UBERON:0015203",
+ "HP:0004808",
+ "UPHENO:0002948",
+ "UPHENO:0002926",
+ "UPHENO:0003065",
+ "UPHENO:0003005",
+ "UPHENO:0081566",
+ "CL:0011026",
+ "UPHENO:0087123",
+ "HP:0001909",
+ "UPHENO:0049966",
+ "CL:0001035",
+ "CL:0008001",
+ "UPHENO:0002983",
+ "CL:0000763",
+ "HP:0012639",
+ "BFO:0000002",
+ "UPHENO:3000003",
+ "HP:0000707",
+ "UPHENO:0086172",
+ "HP:0009115",
+ "HP:0001172",
+ "NCBITaxon:131567",
+ "UPHENO:0076723",
+ "UPHENO:0002905",
+ "UPHENO:0002536",
+ "UPHENO:0076692",
+ "NCBITaxon:33208",
+ "UPHENO:0046528",
+ "UPHENO:0069266",
+ "UPHENO:0076727",
+ "UBERON:0000061",
+ "UPHENO:0076724",
+ "HP:0009381",
+ "UPHENO:0050040",
+ "UPHENO:0002593",
+ "UBERON:0015212",
+ "UPHENO:0046552",
+ "UPHENO:0054304",
+ "NCBITaxon:2759",
+ "UBERON:0002389",
+ "UPHENO:0081581",
+ "UBERON:5001463",
+ "GO:0040007",
+ "UBERON:0001460",
+ "UPHENO:0068971",
+ "GO:0031323",
+ "UBERON:0011138",
+ "UBERON:0002513",
+ "UBERON:0002529",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "UPHENO:0049587",
+ "UPHENO:0002844",
+ "UBERON:0019231",
+ "UPHENO:0080352",
+ "UBERON:0002405",
+ "UBERON:0000026",
+ "UBERON:0004708",
+ "UBERON:0010538",
+ "UBERON:0010712",
+ "UBERON:0010708",
+ "UBERON:0012139",
+ "GO:0031326",
+ "UBERON:0002090",
+ "UPHENO:0002526",
+ "HP:0040064",
+ "HP:0001167",
+ "UPHENO:0063577",
+ "UPHENO:0002708",
+ "UPHENO:0063558",
+ "HP:0011017",
+ "UPHENO:0002976",
+ "UBERON:0012141",
+ "UPHENO:0002782",
+ "UPHENO:0002600",
+ "UPHENO:0002833",
+ "HP:0004322",
+ "UPHENO:0002568",
+ "UBERON:0003129",
+ "UBERON:0015061",
+ "UPHENO:0001003",
+ "UBERON:0006717",
+ "UPHENO:0052778",
+ "HP:0011927",
+ "UPHENO:0012274",
+ "UPHENO:0053208",
+ "UBERON:0002102",
+ "UPHENO:0002632",
+ "UBERON:0004111",
+ "UBERON:0005451",
+ "UBERON:0012140",
+ "UBERON:0002398",
+ "UPHENO:0003069",
+ "UPHENO:0002648",
+ "UPHENO:0002746",
+ "UPHENO:0069605",
+ "UPHENO:0087006",
+ "CL:0000738",
+ "UBERON:0005881",
+ "UBERON:5002544",
+ "UPHENO:0069327",
+ "UBERON:0010323",
+ "UPHENO:0046707",
+ "UPHENO:0002559",
+ "HP:0006727",
+ "UPHENO:0069062",
+ "UPHENO:0075159",
+ "HP:0100547",
+ "UPHENO:0002880",
+ "UBERON:0001434",
+ "HP:0006496",
+ "HP:0009778",
+ "UPHENO:0002830",
+ "UPHENO:0003799",
+ "UPHENO:0084448",
+ "UBERON:0004710",
+ "UBERON:0010314",
+ "UBERON:0001062",
+ "UPHENO:0046483",
+ "UPHENO:0063594",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0004381",
+ "UPHENO:0004476",
+ "UBERON:0007272",
+ "UPHENO:0054957",
+ "UPHENO:0004459",
+ "UBERON:0002428",
+ "HP:0000001",
+ "UBERON:0001442",
+ "UPHENO:0046426"
+ ],
+ "has_phenotype_closure_label": [
+ "anus",
+ "closing of the multicellular anatomical structure",
+ "multicellular anatomical structure atresia",
+ "digestive tract",
+ "anatomical conduit atresia",
+ "anus morphology phenotype",
+ "Abnormal anus morphology",
+ "Anal atresia",
+ "anus atresia",
+ "tube",
+ "orifice",
+ "orifice phenotype",
+ "Abnormal digestive system morphology",
"closing of the anatomical entity",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "Short finger",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "Abnormal cerebral subcortex morphology",
- "decreased length of digit",
- "autopodial skeleton",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "Abnormal finger phalanx morphology",
+ "digestive system morphology phenotype",
+ "T-cell acute lymphoblastic leukemias",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
+ "size of multicellular organism phenotype",
+ "Abnormality of body height",
+ "decreased qualitatively growth",
+ "multicellular organism mass phenotype",
+ "multicellular anatomical structure mass phenotype",
+ "closing of the anatomical structure",
+ "material anatomical entity mass phenotype",
+ "anatomical entity mass phenotype",
+ "multicellular organism phenotype",
+ "Abnormality of body weight",
+ "anatomical structure mass phenotype",
+ "Abnormality of the digestive system",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "negative regulation of cellular metabolic process",
+ "Chromosome breakage",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "closing of the material anatomical entity",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "regulation of cellular biosynthetic process phenotype",
"Abnormal skin morphology",
- "decreased length of autopodial extension",
- "multicellular anatomical structure physiology phenotype",
- "renal pelvis/ureter",
- "axial skeleton plus cranial skeleton morphology phenotype",
- "decreased length of digit 1 or 5",
- "cardiac ventricle phenotype",
- "multi organ part structure physiology phenotype",
- "upper urinary tract",
- "digit 1 or 5 phenotype",
- "anatomical entity morphology in the manus phenotype",
- "posterior segment of eyeball morphology phenotype",
- "multi-tissue structure",
- "malformed anatomical entity",
- "autopod endochondral element",
- "decreased length of mesoderm-derived structure",
- "sac physiology phenotype",
- "central nervous system",
- "posterior segment of eyeball",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "ocular fundus",
- "Abnormal joint morphology",
- "anatomical wall phenotype",
- "decreased size of the forelimb bone",
- "Neurodevelopmental abnormality",
- "multi-limb segment region",
- "decreased size of the bone element",
- "optic disc morphology phenotype",
- "negative regulation of metabolic process",
- "Abnormal fundus morphology",
- "granulocyte morphology phenotype",
- "multicellular organism development phenotype",
- "Opisthokonta",
- "cranial nerve II",
- "Abnormal posterior eye segment morphology",
- "endocrine system morphology phenotype",
- "organ physiology phenotype",
- "retina phenotype",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "Irregular hyperpigmentation",
+ "skin of body phenotype",
+ "pigmentation",
+ "Hypermelanotic macule",
+ "skin of body morphology phenotype",
+ "Cafe-au-lait spot",
+ "increased biological_process in skin of body",
+ "increased pigmentation",
+ "integumental system",
+ "skin of body",
+ "Macule",
+ "Abnormality of the integument",
"decreased embryo development",
- "organism",
- "organ component layer",
- "ear morphology phenotype",
- "decreased size of the organism subdivision",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormal optic nerve morphology",
- "Abnormal nervous system morphology",
- "absent ectoderm-derived structure in the brain ventricle",
- "root",
- "cranial neuron projection bundle phenotype",
- "chorioretinal region",
- "endoderm-derived structure",
- "Abnormality of the nervous system",
- "axon tract",
- "decreased qualitatively system process",
- "digestive system",
- "biological regulation phenotype",
- "metapodium bone 1",
- "phalanx",
- "peptide hormone secretion",
- "Abnormal retinal morphology",
- "cellular organisms",
- "digestive system morphology phenotype",
- "nervous system",
- "Abnormal optic disc morphology",
- "cranial nerve II morphology phenotype",
- "ureter physiology phenotype",
- "intestine atresia",
- "Optic disc pallor",
- "biological_process phenotype",
- "Intrauterine growth retardation",
- "Growth delay",
- "number of anatomical enitites of type intercerebral commissure phenotype",
- "regulation of biological quality",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "Aplasia/Hypoplasia of the cerebrum",
- "absent organ",
+ "negative regulation of biosynthetic process",
+ "decreased qualitatively multicellular organismal process",
+ "closing of the anatomical conduit",
+ "decreased qualitatively biological_process",
"process",
- "embryo development",
- "anatomical collection phenotype",
- "occurrent",
+ "developmental process rate phenotype",
+ "anatomical structure development phenotype",
"biological_process",
- "musculature of body",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "neural crest-derived structure, curved phenotype",
"developmental process",
- "Hypermelanotic macule",
- "skull phenotype",
- "hindbrain",
- "secretion",
- "multicellular organismal process phenotype",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "material anatomical entity phenotype",
+ "multicellular organismal process",
+ "Acute lymphoblastic leukemia",
+ "growth",
+ "decreased multicellular organismal process",
+ "growth phenotype",
+ "biological_process rate phenotype",
"decreased qualitatively multicellular organism development",
- "embryo development phenotype",
+ "regulation of cellular process phenotype",
+ "anatomical structure development",
+ "decreased anatomical structure development",
+ "decreased qualitatively anatomical structure development",
+ "decreased qualitatively embryo development",
"delayed growth",
- "decreased multicellular organismal process",
- "decreased qualitatively developmental process",
- "decreased length of endochondral bone",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "Macule",
- "eyeball of camera-type eye",
- "decreased system process",
- "multi organ part structure",
- "growth",
- "decreased sensory perception",
- "nervous system process",
- "thyroid gland physiology phenotype",
- "Abnormality of the ear",
- "Absent septum pellucidum",
- "intestine",
- "decreased size of the limb bone",
- "sensory perception",
- "Abnormal ear morphology",
- "anterior segment of eyeball",
- "absent endochondral bone in the forelimb",
- "Abnormality of the middle ear",
- "phalanx of manus",
- "Hearing abnormality",
- "Microcephaly",
- "decreased sensory perception of mechanical stimulus",
- "nitrogen compound transport",
- "vibrational conductance of sound to the inner ear",
- "Abnormality of the hypothalamus-pituitary axis",
- "absent forelimb bone in the forelimb",
- "optic disc",
- "ear phenotype",
- "absent radius bone",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of sound",
- "aplasia or hypoplasia of telencephalon",
- "aplastic manual digit 1",
- "paired limb/fin skeleton",
- "absent manual digit",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "absent digit",
- "Finger aplasia",
- "Microphthalmia",
- "heart phenotype",
- "cranial skeletal system",
- "Aplasia/Hypoplasia affecting the eye",
- "vasculature phenotype",
- "incomplete closing of the blood vessel",
- "decreased size of the ectoderm-derived structure",
- "ectoderm-derived structure atresia",
- "decreased size of the sense organ",
- "decreased size of the eyeball of camera-type eye",
- "endoderm-derived structure physiology phenotype",
- "decreased functionality of the endocrine gland",
- "Abnormal ureter physiology",
- "transport phenotype",
- "absent limb endochondral element",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "endocrine gland phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "decreased functionality of the structure with developmental contribution from neural crest",
- "skeletal system morphology phenotype",
- "decreased functionality of the thyroid gland",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "glandular system",
- "neck bone phenotype",
- "localization phenotype",
- "sensory perception phenotype",
- "endocrine gland",
- "decreased length of arm bone",
- "Abnormality of thyroid physiology",
- "decreased functionality of the multicellular anatomical structure",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "decreased functionality of the organ",
- "thyroid gland",
- "segmental subdivision of hindbrain phenotype",
- "gland",
- "dorsum",
+ "embryo development rate phenotype",
+ "embryo development",
+ "delayed biological_process",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "tissue",
+ "digestive system phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormal limb bone morphology",
+ "Abnormal finger morphology",
+ "organ phenotype",
+ "endochondral bone phenotype",
+ "skeletal element phenotype",
+ "decreased size of the manual digit",
+ "bone of appendage girdle complex phenotype",
+ "decreased length of digit 1",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased size of the anatomical structure",
+ "limb bone phenotype",
"bone element phenotype",
- "decreased functionality of the anatomical structure",
- "Cerebellar malformation",
- "formed multi-tissue structure",
+ "regulation of gene expression",
+ "autopod region morphology phenotype",
+ "Localized skin lesion",
+ "Abnormal hand morphology",
+ "digit plus metapodial segment",
+ "autopodial extension",
+ "Abnormality of limbs",
+ "decreased anatomical structure mass",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased length of digit",
+ "skeleton of pectoral complex",
+ "appendicular skeletal system",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Abnormality of skin pigmentation",
+ "skeleton of limb",
+ "myeloblast",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "granulocytopoietic cell",
+ "eukaryotic cell",
+ "independent continuant",
+ "anatomical entity morphology in the manus phenotype",
+ "negative regulation of gene expression phenotype",
+ "multicellular organism development",
+ "segment of autopod",
+ "hemolymphoid system",
+ "central nervous system",
+ "multi-tissue structure phenotype",
+ "Decreased multicellular organism mass",
+ "Abnormal brain morphology",
+ "cellular organisms",
+ "skull morphology phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of head or neck",
+ "decreased length of digit 1 or 5",
+ "regional part of nervous system",
+ "forebrain",
+ "appendage phenotype",
"brain",
- "negative regulation of biological process phenotype",
- "duodenum",
- "Abnormal hindbrain morphology",
- "intestine phenotype",
- "regulation of cellular biosynthetic process",
- "autopod endochondral element phenotype",
- "cerebellum phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "closing of the anatomical structure",
- "Chiari malformation",
- "formed multicellular anatomical structure",
- "fused vertebra and bony vertebral centrum",
- "incomplete closing of the mesoderm-derived structure",
- "Aplasia/Hypoplasia of the optic nerve",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone marrow cell",
+ "system",
+ "manus phenotype",
+ "craniocervical region phenotype",
+ "main body axis",
+ "organism subdivision phenotype",
+ "endochondral element",
+ "nervous system",
+ "anatomical entity atresia",
+ "decreased length of material anatomical entity",
+ "nucleate cell",
+ "Decreased anatomical entity mass",
+ "manual digitopodium region",
+ "ectoderm-derived structure",
"structure with developmental contribution from neural crest",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "formed regional part of nervous system",
- "nervous system commissure",
- "formed regional part of brain",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "Abnormality of body height",
- "forelimb long bone",
- "brain morphology phenotype",
- "hindbrain phenotype",
- "cerebellum morphology phenotype",
- "Synostosis of joints",
- "eye",
- "Abnormal brain morphology",
- "skeletal joint",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "Abnormal joint physiology",
- "Global developmental delay",
- "commissure of telencephalon phenotype",
- "manual digit",
- "vertebral element phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "cervical region",
- "aplasia or hypoplasia of metacarpal bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "fused anatomical entity and skeletal joint",
- "absent forelimb endochondral element in the forelimb",
- "cervical vertebra morphology phenotype",
- "axial skeletal system",
- "postcranial axial skeletal system",
- "axial skeleton plus cranial skeleton",
- "decreased number of cell",
- "axial skeleton plus cranial skeleton phenotype",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "chemical entity",
- "dorsal region element",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "neck bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "pectoral complex",
- "cervical region of vertebral column",
- "absent mesoderm-derived structure in the multicellular organism",
- "renal system",
- "digitopodium bone",
- "Fused cervical vertebrae",
- "neck morphology phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "trunk or cervical vertebra",
- "articulation",
- "programmed DNA elimination",
- "Abnormality of skull size",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "fused skeletal joint and anatomical entity",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "limb long bone phenotype",
- "Vertebral segmentation defect",
- "fused vertebra and vertebra",
- "dorsal part of neck morphology phenotype",
- "skeletal joint phenotype",
- "fused anatomical entity and anatomical entity",
- "brain ventricle/choroid plexus",
- "fused anatomical entity and vertebra",
+ "anatomical entity",
+ "skull phenotype",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "negative regulation of gene expression",
+ "Phenotypic abnormality",
+ "anus phenotype",
+ "material entity",
"regulation of macromolecule biosynthetic process",
- "articular system",
+ "head phenotype",
+ "organism subdivision",
+ "regional part of brain phenotype",
+ "limb segment phenotype",
+ "telencephalon",
+ "Abnormality of the skeletal system",
+ "decreased size of the anatomical entity",
"Abnormal axial skeleton morphology",
- "gray matter of forebrain phenotype",
- "Abnormality of the vertebral column",
- "skeletal element phenotype",
- "establishment of localization",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
+ "ectoderm-derived structure phenotype",
+ "hematopoietic system phenotype",
+ "anterior region of body",
+ "appendicular skeleton",
+ "upper limb segment",
+ "decreased multicellular organism development",
+ "regional part of nervous system phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "Bone marrow hypocellularity",
+ "skeletal element",
"Aplasia/Hypoplasia involving the central nervous system",
- "blood",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "signal release phenotype",
- "amide transport",
- "negative regulation of cellular process",
- "decreased number of platelet",
- "formed material anatomical entity",
- "peptide secretion",
- "peptide secretion phenotype",
- "transport",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent long bone in the forelimb",
- "haemolymphatic fluid",
- "aplasia or hypoplasia of metacarpal bone of digit 1",
- "cellular process",
- "localization",
- "aplasia or hypoplasia of manual digit 1 phalanx",
- "decreased length of forelimb bone",
- "aplasia or hypoplasia of cranial nerve II",
- "Neurodevelopmental delay",
- "Abnormal corpus callosum morphology",
- "growth hormone secretion",
- "decreased length of manual digit 1 phalanx",
- "decreased length of manual digit 1",
- "amide transport phenotype",
- "urinary bladder",
- "cellular process phenotype",
- "arterial system",
- "cell communication",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "absent dorsal telencephalic commissure",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "radius bone hypoplasia",
- "anatomical entity hypoplasia",
- "peptide transport phenotype",
- "absent radius bone in the forelimb",
- "mesoderm-derived structure morphology in the heart phenotype",
- "bodily fluid",
- "manus bone",
- "growth hormone secretion phenotype",
- "Abnormal lateral ventricle morphology",
- "bladder organ physiology phenotype",
- "Abnormality of the neck",
- "Abnormal neck morphology",
- "Abnormality of the cervical spine",
- "anatomical cluster phenotype",
+ "decreased size of the organism subdivision",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
+ "Abnormal nervous system morphology",
+ "anatomical system phenotype",
+ "decreased size of the digit",
+ "autopodial extension phenotype",
+ "Chromosomal breakage induced by crosslinking agents",
+ "forebrain morphology phenotype",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "appendage",
+ "anatomical entity phenotype",
+ "root",
+ "immune system",
+ "myeloid cell",
+ "quality",
+ "musculoskeletal system",
+ "Abnormal cell morphology",
+ "phenotype",
+ "head morphology phenotype",
+ "Abnormality of the anus",
+ "organ system subdivision",
+ "anatomical conduit phenotype",
+ "axial skeleton plus cranial skeleton",
+ "Abnormality of the nervous system",
+ "Metazoa",
+ "multi-tissue structure",
+ "decreased multicellular anatomical structure mass",
+ "increased qualitatively biological_process",
+ "All",
+ "anatomical collection",
+ "nervous system phenotype",
+ "Abnormality of the immune system",
+ "Abnormal cerebral morphology",
+ "specifically dependent continuant",
+ "Abnormal forebrain morphology",
+ "multi-limb segment region phenotype",
+ "anatomical conduit",
+ "Abnormality of the head",
+ "Decreased head circumference",
+ "biological regulation phenotype",
+ "Abnormality of skull size",
+ "pectoral complex",
+ "homeostatic process phenotype",
+ "brain morphology phenotype",
+ "anatomical entity length phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "decreased growth",
+ "disconnected anatomical group",
+ "material anatomical entity atresia",
+ "regulation of gene expression phenotype",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of biological process phenotype",
+ "subdivision of skeletal system",
+ "Leukemia",
+ "entity",
+ "continuant",
+ "multicellular anatomical structure",
+ "neoplasm phenotype",
+ "telencephalon phenotype",
+ "progenitor cell",
+ "size of anatomical entity phenotype",
+ "phenotypic effect",
+ "pectoral appendage skeleton",
+ "regional part of brain",
+ "musculature",
+ "anatomical structure",
+ "Hyperpigmentation of the skin",
+ "digit",
+ "limb endochondral element phenotype",
+ "Decreased body weight",
+ "decreased qualitatively developmental process",
+ "postcranial axial skeleton",
+ "material anatomical entity",
+ "structure with developmental contribution from neural crest phenotype",
+ "bone of appendage girdle complex",
+ "regulation of biological process",
+ "hematopoietic lineage restricted progenitor cell",
+ "nervous system morphology phenotype",
+ "digit 1 phenotype",
+ "decreased size of the multicellular organism",
+ "myeloid lineage restricted progenitor cell",
+ "telencephalon morphology phenotype",
+ "ectoderm-derived structure atresia",
+ "immune system morphology phenotype",
+ "decreased material anatomical entity mass",
+ "subdivision of organism along main body axis",
"integument phenotype",
- "renal system phenotype",
- "decreased length of organism subdivision",
- "Short neck",
- "nervous system physiology phenotype",
- "obsolete cell",
- "negative regulation of macromolecule metabolic process",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "manus",
+ "decreased developmental process",
+ "central nervous system morphology phenotype",
+ "axial skeletal system",
+ "motile cell",
+ "skeletal system",
+ "multicellular anatomical structure phenotype",
+ "multicellular organism height phenotype",
+ "cranial skeletal system",
+ "limb morphology phenotype",
+ "decreased length of manual digit",
+ "Eumetazoa",
+ "Eukaryota",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of skeletal system phenotype",
+ "digit 1 or 5",
+ "programmed DNA elimination by chromosome breakage",
+ "Growth abnormality",
+ "size of skull phenotype",
+ "anatomical entity morphology phenotype",
+ "multicellular organism development phenotype",
+ "subdivision of organism along appendicular axis",
+ "musculature of body",
+ "body proper",
+ "pectoral appendage",
"regulation of biosynthetic process phenotype",
- "regulation of metabolic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "organ system subdivision phenotype",
- "urinary bladder physiology phenotype",
- "homeostatic process",
- "negative regulation of gene expression",
- "pectoral appendage phenotype",
- "decreased qualitatively nervous system process",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "taxon specific phenotype",
"negative regulation of macromolecule metabolic process phenotype",
- "regulation of macromolecule metabolic process",
- "Abnormality of chromosome stability",
- "Abnormal cerebral morphology",
- "bone of dorsum phenotype",
- "forebrain morphology phenotype",
- "cranial neuron projection bundle",
- "telencephalic ventricle",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "ureter",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "telencephalon",
- "reproductive gland phenotype",
- "forebrain",
- "telencephalon morphology phenotype",
- "decreased length of metapodium bone",
- "Aplasia/hypoplasia involving bones of the hand",
- "Colpocephaly",
- "brain ventricle phenotype",
- "telencephalon phenotype",
- "telencephalic ventricle morphology phenotype",
- "Abnormal forebrain morphology",
- "compound organ physiology phenotype",
- "bladder organ phenotype",
- "excretory tube phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "cavitated compound organ",
- "sac",
- "pelvic region element",
- "increased biological_process in skin of body",
- "Abnormal myeloid leukocyte morphology",
- "genitourinary system phenotype",
- "lower urinary tract phenotype",
- "manual digit 1 phalanx",
- "urinary bladder phenotype",
- "kidney",
- "incomplete closing of the anatomical structure",
- "viscus physiology phenotype",
- "trunk region element physiology phenotype",
- "face phenotype",
- "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "digestive system",
+ "Abnormal leukocyte morphology",
+ "precursor cell",
+ "manual digit 1 plus metapodial segment",
+ "skeletal system phenotype",
+ "Abnormality of the skin",
+ "organ system subdivision phenotype",
+ "craniocervical region",
+ "aplasia or hypoplasia of telencephalon",
+ "Growth delay",
+ "decreased length of multicellular anatomical structure",
+ "bone of free limb or fin phenotype",
+ "anatomical structure phenotype",
+ "bone of free limb or fin",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical system",
+ "occurrent",
+ "appendicular skeleton morphology phenotype",
+ "organ",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "multicellular organism morphology phenotype",
+ "Abnormal cellular immune system morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "Short stature",
+ "decreased biological_process",
+ "Aplasia/hypoplasia of the extremities",
+ "manual digit plus metapodial segment",
+ "integument",
+ "leukocyte morphology phenotype",
+ "limb bone",
+ "mesoderm-derived structure",
+ "non-connected functional system",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "Abnormal cellular phenotype",
+ "Neoplasm by anatomical site",
+ "decreased length of manual digit 1",
+ "Acute leukemia",
+ "embryo development phenotype",
+ "manual digit 1 or 5",
+ "Neoplasm",
+ "hematopoietic cell",
+ "leukocyte",
"skeleton",
- "sac phenotype",
- "Abnormal leukocyte count",
- "bladder organ",
- "Abnormality of the lower urinary tract",
- "pelvic region of trunk",
- "abdominal segment element phenotype",
- "genitourinary system",
- "cardiovascular system phenotype",
- "secretion phenotype",
- "anatomical cluster",
- "size of skull phenotype",
+ "immune system phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal immune system morphology",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "organism",
+ "autopod region",
+ "Abnormal cellular physiology",
+ "forelimb morphology phenotype",
+ "limb segment",
+ "multicellular organismal process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "decreased size of the multicellular anatomical structure",
+ "Short finger",
+ "skeleton of manus",
+ "Failure to thrive",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "closing of the ectoderm-derived structure",
+ "limb endochondral element",
+ "autopodial skeleton",
+ "lateral structure",
+ "Acute myeloid leukemia",
+ "Short digit",
+ "Abnormal skeletal morphology",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "anatomical collection phenotype",
+ "limb bone morphology phenotype",
+ "manual digit",
+ "arm",
+ "material anatomical entity phenotype",
+ "manus morphology phenotype",
+ "hematopoietic system",
+ "multicellular organism",
+ "arm phenotype",
+ "postcranial axial skeletal system",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "Microcephaly",
+ "skeleton phenotype",
+ "paired limb/fin",
+ "forelimb skeleton",
+ "Abnormal thumb morphology",
+ "appendage girdle complex",
+ "digit phenotype",
+ "bone marrow",
+ "acropodium region",
+ "developmental process phenotype",
+ "paired limb/fin segment phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "manual digit 1",
+ "skull",
+ "decreased length of organism subdivision",
+ "decreased length of anatomical entity",
+ "negative regulation of cellular process phenotype",
+ "decreased size of the autopodial extension",
+ "digit 1 plus metapodial segment",
+ "decreased length of anatomical structure",
+ "Hematological neoplasm",
+ "Abnormality of the hand",
+ "hematopoietic precursor cell",
+ "limb",
+ "cell",
+ "Abnormality of the upper limb",
+ "negative regulation of macromolecule biosynthetic process",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Abnormal digit morphology",
+ "orifice atresia",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "decreased length of autopodial extension",
"upper limb segment phenotype",
- "Abnormal skull morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "cranial skeletal system phenotype",
- "Atresia of the external auditory canal",
- "number of anatomical enitites of type anatomical structure phenotype",
- "external acoustic meatus morphology phenotype",
- "regulation of hormone levels phenotype",
- "immune system",
- "closing of the anatomical conduit"
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "limb skeleton subdivision",
+ "manual digit morphology in the manus phenotype",
+ "multi-limb segment region",
+ "pigmentation phenotype",
+ "manual digit phenotype",
+ "Intrauterine growth retardation",
+ "Short thumb",
+ "anatomical structure atresia",
+ "manual digit 1 morphology phenotype",
+ "endochondral element phenotype",
+ "decreased length of manual digit 1 or 5",
+ "head",
+ "Abnormality of limb bone",
+ "biological_process phenotype",
+ "decreased size of the material anatomical entity"
],
- "has_phenotype_count": 44,
+ "has_phenotype_count": 11,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0012187",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group J",
+ "name": "Fanconi anemia complementation group O",
"full_name": null,
"deprecated": null,
- "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
"xref": [
- "DOID:0111097",
- "GARD:15449",
- "MEDGEN:323015",
- "MESH:C563801",
- "NCIT:C129027",
- "OMIM:609054",
- "UMLS:C1836860"
+ "DOID:0111096",
+ "GARD:15656",
+ "MEDGEN:462003",
+ "OMIM:613390",
+ "UMLS:C3150653"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCJ",
- "Fanconi Anemia, complementation group type J",
- "Fanconi anaemia complementation group type J",
- "Fanconi anemia complementation group J",
- "Fanconi anemia complementation group type J",
- "Fanconi anemia, complementation group J"
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0001245",
+ "HP:0003774",
+ "HP:0002984",
+ "HP:0000126",
+ "HP:0000028",
"HP:0009778",
- "HP:0005528",
- "HP:0001511",
- "HP:0007565",
- "HP:0008897",
- "HP:0000568",
- "HP:0001263",
- "HP:0003221"
+ "HP:0009623",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0003241",
+ "HP:0004322",
+ "HP:0002023",
+ "HP:0025023"
],
"has_phenotype_label": [
+ "Absent thumb",
+ "Chromosome breakage",
+ "Small thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "Hypoplasia of the radius",
+ "Hydronephrosis",
+ "Cryptorchidism",
"Short thumb",
- "Bone marrow hypocellularity",
- "Intrauterine growth retardation",
- "Multiple cafe-au-lait spots",
- "Postnatal growth retardation",
- "Microphthalmia",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents"
+ "Proximal placement of thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "Short stature",
+ "Anal atresia",
+ "Rectal atresia"
],
"has_phenotype_closure": [
- "GO:0009889",
- "GO:0048523",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "HP:0003221",
- "UPHENO:0049904",
+ "UBERON:0013522",
+ "UPHENO:0063629",
+ "UPHENO:0002994",
+ "UBERON:0013765",
+ "UPHENO:0074310",
+ "UPHENO:0076735",
+ "HP:0002589",
+ "UPHENO:0074311",
+ "UPHENO:0076783",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UBERON:0001353",
+ "NCBITaxon:131567",
+ "UPHENO:0002714",
+ "HP:0002242",
+ "UPHENO:0063615",
+ "HP:0012732",
+ "UPHENO:0076773",
+ "UBERON:0000059",
+ "HP:0002034",
+ "UBERON:0000481",
+ "NCBITaxon:1",
+ "HP:0012718",
+ "UPHENO:0063563",
+ "UBERON:0000160",
+ "UBERON:0006866",
+ "UBERON:0001052",
+ "HP:0011100",
+ "UPHENO:0002725",
+ "UPHENO:0063577",
+ "HP:0004378",
+ "UPHENO:0002548",
+ "UPHENO:0074227",
+ "HP:0034915",
+ "UBERON:0000025",
+ "UPHENO:0076803",
+ "UPHENO:0063594",
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+ "UPHENO:0002833",
+ "UPHENO:0074230",
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+ "UBERON:0001555",
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+ "UPHENO:0074237",
+ "UPHENO:0000543",
+ "HP:0001507",
+ "HP:0003011",
+ "UBERON:0001630",
+ "HP:0033127",
+ "UPHENO:0086635",
+ "HP:0011425",
+ "UBERON:0008837",
+ "HP:0002250",
+ "UBERON:0034929",
+ "UPHENO:0002655",
+ "HP:0040070",
"UPHENO:0050784",
- "GO:0019222",
- "UPHENO:0049620",
+ "GO:0008150",
+ "UPHENO:0081424",
+ "UPHENO:0003049",
+ "GO:0010558",
+ "HP:0009821",
+ "UPHENO:0004518",
"UPHENO:0049642",
- "GO:0010556",
- "GO:0031326",
- "GO:0010605",
- "UPHENO:0050065",
- "UPHENO:0050063",
- "UPHENO:0050435",
- "GO:0031052",
+ "UPHENO:0046472",
+ "GO:0009889",
+ "HP:0030680",
+ "NCBITaxon:33208",
+ "HP:0011017",
+ "UPHENO:0002976",
"UPHENO:0050025",
- "HP:0001939",
- "GO:0031327",
+ "CL:0000000",
+ "GO:0009890",
+ "UPHENO:0002750",
+ "UPHENO:0081466",
+ "UBERON:0000467",
+ "UBERON:0004765",
+ "GO:0010629",
+ "HP:0001626",
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- "UPHENO:0050778",
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- "UPHENO:0002385",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "HP:0001263",
- "UBERON:0001016",
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- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0004909",
- "UPHENO:0012274",
- "BFO:0000004",
+ "UPHENO:0004900",
+ "UPHENO:0003057",
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+ "UPHENO:0011531",
+ "UBERON:0000383",
+ "UPHENO:0053632",
+ "UPHENO:0080352",
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- "HP:0001167",
- "HP:0000951",
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- "HP:0000957",
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- "HP:0005528",
- "UBERON:0011676",
- "UPHENO:0002733",
- "GO:0032501",
"HP:0009815",
+ "UPHENO:0088186",
+ "BFO:0000040",
+ "UPHENO:0026506",
+ "UPHENO:0068848",
+ "HP:0000083",
+ "UPHENO:0086700",
+ "UPHENO:0084763",
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+ "MPATH:62",
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+ "HP:0009380",
+ "UPHENO:0026108",
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+ "UBERON:0015021",
+ "UPHENO:0086633",
+ "UPHENO:0063632",
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+ "UPHENO:0053571",
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+ "UBERON:0002100",
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+ "GO:0031326",
+ "UPHENO:0002526",
+ "UPHENO:0081341",
+ "UBERON:0001434",
+ "HP:0006496",
+ "HP:0009778",
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+ "UPHENO:0063558",
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+ "UBERON:0005090",
+ "HP:0000078",
+ "HP:0009601",
+ "GO:0060255",
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+ "UPHENO:0076703",
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- "UPHENO:0046552",
- "UPHENO:0050034",
- "HP:0006265",
- "HP:0045060",
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- "Global developmental delay",
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- "anatomical system physiology phenotype",
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- "nervous system phenotype",
- "Neurodevelopmental abnormality",
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- "regulation of biosynthetic process",
- "sense organ",
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- "Abnormality of the face",
- "subdivision of organism along main body axis phenotype",
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- "visual system",
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- "decreased size of the organ",
- "main body axis",
- "negative regulation of metabolic process",
- "subdivision of organism along main body axis",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "simple eye phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "camera-type eye morphology phenotype",
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- "orbital region",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "face morphology phenotype",
- "Abnormal eye morphology",
- "Microphthalmia",
- "craniofacial/craniocervical phenotype",
- "simple eye",
- "eyeball of camera-type eye",
- "face phenotype",
- "eye",
- "head morphology phenotype",
- "visual system phenotype",
- "head",
- "Abnormality of the orbital region",
- "Postnatal growth retardation",
- "Irregular hyperpigmentation",
- "increased biological_process in skin of body",
- "Localized skin lesion",
- "ectoderm-derived structure",
- "Cafe-au-lait spot",
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+ "UBERON:0015410",
+ "UPHENO:0050065",
+ "UBERON:0000915",
+ "UPHENO:0075949",
+ "MPATH:0",
+ "MPATH:603",
+ "UPHENO:0049874",
+ "GO:0010468",
+ "UPHENO:0012440",
+ "UPHENO:0000541",
+ "UPHENO:0080351"
+ ],
+ "has_phenotype_closure_label": [
+ "Opisthokonta",
+ "Anorectal anomaly",
+ "rectum morphology phenotype",
+ "Abnormal intestine morphology",
+ "Rectal atresia",
+ "closing of the organ part",
+ "intestine morphology phenotype",
+ "intestine atresia",
+ "anatomical system atresia",
+ "subdivision of digestive tract atresia",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "rectum atresia",
+ "organism",
+ "digestive system element",
+ "internal anal region",
+ "cellular organisms",
+ "Abnormal gastrointestinal tract morphology",
+ "organ part atresia",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "alimentary part of gastrointestinal system atresia",
+ "anus",
+ "material anatomical entity atresia",
+ "closing of the anatomical structure",
+ "digestive system phenotype",
+ "digestive tract",
+ "closing of the anatomical conduit",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "Abnormal anus morphology",
"ectoderm-derived structure phenotype",
- "increased biological_process",
- "integument",
- "pigmentation",
- "Hypermelanotic macule",
- "Multiple cafe-au-lait spots",
- "Abnormality of the skin",
- "integument phenotype",
- "increased pigmentation in skin of body",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "negative regulation of gene expression phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "organism subdivision phenotype",
- "paired limb/fin segment",
- "Bone marrow hypocellularity",
- "cell phenotype",
- "negative regulation of macromolecule metabolic process",
- "size of eyeball of camera-type eye phenotype",
- "aplasia or hypoplasia of manual digit 1",
+ "orifice",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "orifice phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "Abnormal digestive system morphology",
+ "root",
+ "ectoderm-derived structure atresia",
+ "anatomical structure atresia",
+ "closing of the anatomical entity",
+ "Abnormality of the digestive system",
+ "closing of the ectoderm-derived structure",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "palmar/plantar part of autopod",
+ "anal region",
+ "muscle structure",
+ "large intestine",
+ "material anatomical entity",
+ "Abnormal skeletal muscle morphology",
+ "arm phenotype",
+ "thoracic cavity element",
+ "pectoral appendage musculature",
+ "musculature of upper limb",
+ "regulation of cellular metabolic process",
+ "subdivision of tube phenotype",
+ "musculature of limb phenotype",
+ "independent continuant",
+ "subdivision of skeletal system",
+ "entity",
+ "forelimb zeugopod bone morphology phenotype",
"autopod region morphology phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "paired limb/fin phenotype",
- "skeletal system phenotype",
- "bone element",
- "musculature of body",
- "multi-limb segment region",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "autopodial extension",
- "decreased length of digit",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
- "manus phenotype",
- "non-connected functional system",
- "skeleton of manus",
- "Abnormal hand morphology",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "skeleton of limb",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "regulation of biological process phenotype",
- "tissue",
- "limb bone",
- "multicellular anatomical structure",
- "subdivision of skeleton",
- "Abnormality of the hand",
- "phenotypic effect",
- "Abnormal skin morphology",
- "acropodium region",
- "anatomical entity phenotype",
- "head phenotype",
- "forelimb morphology phenotype",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "decreased length of material anatomical entity",
- "anatomical collection",
- "Aplasia/hypoplasia of the extremities",
- "anatomical structure",
- "manual digit morphology in the manus phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "anatomical entity morphology phenotype",
- "decreased size of the multicellular anatomical structure",
- "digit morphology phenotype",
- "eyeball of camera-type eye phenotype",
- "manual digit 1",
- "All",
- "organ system subdivision phenotype",
- "endochondral bone phenotype",
- "forelimb phenotype",
- "taxon specific phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
"regulation of cellular biosynthetic process",
- "decreased length of digit 1",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "Abnormal skeletal morphology",
- "delayed biological_process",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "Abnormal cellular phenotype",
+ "negative regulation of gene expression phenotype",
"segment of autopod",
- "manus",
- "phenotype",
- "skeletal element phenotype",
- "pectoral complex",
- "nervous system",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis phenotype",
+ "reproductive system",
+ "muscle organ",
+ "musculature of pectoral complex",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "cell phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "cell",
"Abnormality of the upper limb",
- "limb morphology phenotype",
- "negative regulation of metabolic process phenotype",
- "pectoral appendage skeleton",
- "appendicular skeleton",
- "hematopoietic system phenotype",
- "continuant",
- "body proper",
- "entity",
- "decreased size of the anatomical entity in the pectoral complex",
- "bone element phenotype",
- "Abnormality of skin pigmentation",
- "Abnormality of the skeletal system",
- "anatomical entity",
- "autopod region phenotype",
- "skeleton of pectoral complex",
- "manual digit plus metapodial segment",
+ "skeletal element",
"regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "limb segment",
- "musculoskeletal system",
- "immune system",
- "decreased embryo development",
- "manus morphology phenotype",
+ "zeugopod",
"regulation of biosynthetic process phenotype",
- "growth phenotype",
- "embryo development rate phenotype",
- "organ system subdivision",
- "forelimb skeleton",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Abnormality of chromosome stability",
"negative regulation of macromolecule metabolic process phenotype",
- "decreased size of the organism subdivision",
+ "increased size of the renal pelvis",
+ "homeostatic process",
+ "appendage girdle complex",
+ "digit phenotype",
+ "musculature phenotype",
+ "Abnormal finger morphology",
+ "organ phenotype",
+ "decreased length of manual digit",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "dilated renal pelvis",
+ "negative regulation of biological process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "occurrent",
+ "subdivision of skeleton",
"endochondral bone",
- "Abnormality of chromosome stability",
+ "Aplasia/Hypoplasia of the radius",
+ "endochondral bone phenotype",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "external soft tissue zone",
+ "skeletal system phenotype",
+ "digit plus metapodial segment",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "localised testis",
+ "musculoskeletal system",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "All",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "manual digit morphology in the manus phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Upper limb undergrowth",
+ "skeleton of pectoral complex",
+ "paired limb/fin segment",
+ "absent multicellular anatomical structure",
+ "decreased length of endochondral bone",
+ "Eukaryota",
+ "negative regulation of cellular metabolic process",
+ "abdomen element",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "forelimb endochondral element",
+ "Phenotypic abnormality",
+ "negative regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Abnormality of the urinary system physiology",
+ "bone element phenotype",
+ "pectoral complex",
+ "multi-limb segment region phenotype",
+ "regulation of macromolecule metabolic process",
"upper limb segment phenotype",
- "biological_process phenotype",
+ "endochondral element phenotype",
+ "manual digit 1 morphology phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "closing of the subdivision of tube",
+ "skeleton of limb",
"negative regulation of cellular process phenotype",
- "autopodial extension phenotype",
- "increased pigmentation",
- "Short thumb",
- "musculature of body phenotype",
+ "decreased size of the autopodial extension",
+ "musculature of manus",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "absent anatomical structure in the forelimb",
+ "aplasia or hypoplasia of manual digit 1",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "orifice atresia",
+ "appendicular skeleton",
"upper limb segment",
+ "external soft tissue zone phenotype",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "embryo phenotype",
+ "segment of manus",
+ "protein-containing material entity",
+ "manual digit plus metapodial segment",
+ "Anal atresia",
+ "limb endochondral element",
+ "agenesis of anatomical entity",
+ "thenar eminence hypoplasia",
+ "skeleton of manus",
+ "skeleton phenotype",
+ "palmar part of manus",
+ "Abnormal large intestine morphology",
"Aplasia/hypoplasia involving the skeleton",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "limb bone phenotype",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "skeleton of limb phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
"arm",
- "Abnormal cell morphology",
- "decreased length of manual digit 1 or 5",
- "skin of body phenotype",
- "appendicular skeletal system",
- "material anatomical entity",
- "limb segment phenotype",
- "Macule",
- "biological_process rate phenotype",
- "pectoral appendage phenotype",
- "bone marrow cell",
+ "trunk region element physiology phenotype",
+ "male reproductive organ phenotype",
+ "autopodial extension phenotype",
"manual digit",
- "Abnormality of limbs",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "decreased size of the manual digit",
- "subdivision of organism along appendicular axis",
- "appendage girdle complex",
+ "Abnormal cardiovascular system morphology",
+ "continuant",
+ "absent material anatomical entity in the forelimb",
+ "late embryo phenotype",
+ "regulation of cellular process phenotype",
+ "forelimb zeugopod",
+ "Abnormal appendicular skeleton morphology",
"multicellular organism",
- "embryo development",
- "endochondral element",
- "digitopodium region",
- "anatomical system",
- "decreased qualitatively multicellular organismal process",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "decreased size of the ectoderm-derived structure",
- "digit",
- "regulation of cellular process",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "material entity",
- "camera-type eye",
- "pectoral appendage",
- "manual digitopodium region",
- "vision/eye phenotype",
- "digit 1 or 5",
- "bone of appendage girdle complex",
- "paired limb/fin",
- "cell",
- "immune system phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "muscle organ morphology phenotype",
+ "autopod region phenotype",
"material anatomical entity phenotype",
- "camera-type eye phenotype",
+ "forelimb long bone phenotype",
+ "skeletal system",
+ "Hypoplasia of the radius",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "manus phenotype",
+ "multicellular anatomical structure",
+ "absent anatomical entity in the forelimb",
+ "regulation of metabolic process",
+ "autopodial extension",
+ "manual digit 1",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
+ "bone element",
+ "regulation of biological process",
"digit 1 phenotype",
- "multicellular anatomical structure phenotype",
- "bone of free limb or fin phenotype",
- "forelimb",
- "digit phenotype",
- "bone cell",
- "decreased length of multicellular anatomical structure",
+ "lateral structure",
"mesoderm-derived structure",
+ "Stage 5 chronic kidney disease",
+ "closing of the multicellular anatomical structure",
+ "organ system subdivision",
+ "thenar eminence phenotype",
+ "musculature",
+ "Abnormality of the thenar eminence",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "limb endochondral element phenotype",
+ "anatomical structure",
+ "paired limb/fin phenotype",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical conduit phenotype",
+ "taxon specific phenotype",
+ "Abnormal rectum morphology",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "limb segment",
+ "forelimb morphology phenotype",
+ "musculature of limb",
+ "Abnormal cellular physiology",
+ "cardiovascular system",
+ "male reproductive system phenotype",
+ "aplastic manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "anatomical system",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "lower digestive tract",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of digestive tract",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "renal pelvis",
+ "forelimb",
+ "Abnormal skeletal morphology",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "digit 1 or 5",
+ "autopodial skeleton",
+ "Aplasia/Hypoplasia of the thumb",
+ "system",
+ "regulation of gene expression phenotype",
+ "bone of appendage girdle complex phenotype",
+ "Abnormality of prenatal development or birth",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "negative regulation of metabolic process",
+ "manual digit 1 or 5",
+ "paired limb/fin segment phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
"Abnormal digit morphology",
+ "negative regulation of cellular process",
+ "forelimb skeleton",
+ "genitourinary system",
+ "renal pelvis phenotype",
+ "anatomical entity",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "Proximal placement of thumb",
+ "alimentary part of gastrointestinal system phenotype",
+ "pectoral appendage skeleton",
+ "forelimb endochondral element phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "biological regulation",
+ "abdominal segment of trunk",
+ "manus",
+ "thenar eminence",
+ "Abnormality of limbs",
+ "regulation of gene expression",
+ "pectoral appendage",
+ "Abnormality of the musculoskeletal system",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ",
+ "multicellular organism morphology phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "Abnormality of the musculature of the limbs",
+ "anatomical structure physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "anatomical conduit atresia",
+ "Deviation of finger",
+ "Abnormality of the skeletal system",
+ "Abnormality of limb bone",
+ "homeostatic process phenotype",
+ "Abnormal renal pelvis morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "Short stature",
"digit 1",
- "Growth delay",
+ "aplasia or hypoplasia of manual digit",
+ "Abnormality of the musculature",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "thoracic segment of trunk",
+ "limb bone phenotype",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "absent organism subdivision",
"autopod region",
- "Abnormal limb bone morphology",
- "subdivision of head",
- "endochondral element phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "Short finger",
- "system",
- "limb endochondral element",
- "programmed DNA elimination by chromosome breakage",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
+ "decreased length of bone of pectoral complex",
+ "skeleton",
+ "anatomical collection phenotype",
+ "quality",
+ "absent anatomical structure in the limb",
+ "decreased length of mesoderm-derived structure",
+ "negative regulation of macromolecule metabolic process",
+ "abdominal segment element",
+ "organ physiology phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased length of endochondral element",
+ "absent anatomical structure in the multicellular organism",
+ "subdivision of organism along appendicular axis",
+ "Deviation of the thumb",
+ "regulation of biosynthetic process",
+ "bone of appendage girdle complex",
+ "absent anatomical entity",
+ "process",
+ "Abnormality of metabolism/homeostasis",
+ "limb morphology phenotype",
+ "biological regulation phenotype",
+ "intestine phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "external male genitalia",
+ "organism subdivision",
+ "limb segment phenotype",
+ "digit 1 or 5 phenotype",
+ "digestive system",
+ "anatomical entity morphology phenotype",
+ "obsolete cell",
+ "decreased length of long bone",
+ "programmed DNA elimination",
+ "spatial pattern of anatomical entity phenotype",
+ "subdivision of tube atresia",
+ "multi-limb segment region",
+ "digit",
"anatomical entity length phenotype",
- "sensory system phenotype",
- "face",
- "independent continuant",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "biological_process",
- "decreased length of autopodial extension",
+ "abdominal segment element phenotype",
+ "Finger aplasia",
+ "manual digit phenotype",
+ "musculature of pectoral complex phenotype",
"decreased length of anatomical structure",
- "negative regulation of cellular process",
- "lateral structure",
- "obsolete cell",
- "autopodial skeleton",
- "bone of appendage girdle complex phenotype",
+ "musculature of manus phenotype",
+ "trunk",
+ "Abnormality of the musculature of the hand",
+ "appendage musculature",
+ "manus morphology phenotype",
+ "musculature of upper limb phenotype",
+ "Abnormality of the musculature of the upper limbs",
+ "compound organ physiology phenotype",
+ "Small thenar eminence",
+ "abdomen element physiology phenotype",
+ "pectoral appendage musculature phenotype",
+ "digit 1 plus metapodial segment",
+ "Abnormal renal physiology",
+ "Intestinal atresia",
+ "arm bone",
+ "kidney physiology phenotype",
+ "radius endochondral element",
+ "anatomical system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "localised anatomical structure",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "cavitated compound organ physiology phenotype",
+ "decreased size of the organ",
+ "decreased size of the endochondral bone",
+ "Chronic kidney disease",
+ "renal system phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "body proper",
+ "regulation of biological process phenotype",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "anatomical system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "male organism",
+ "renal system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "Renal insufficiency",
+ "Abnormality of the kidney",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the cardiovascular system",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "decreased size of the forelimb zeugopod bone",
+ "long bone morphology phenotype",
+ "absent autopodial extension",
+ "Fetal ultrasound soft marker",
+ "closing of the material anatomical entity",
+ "circulatory system",
+ "subdivision of organism along main body axis",
+ "main body axis",
+ "localised multicellular anatomical structure",
+ "lateral structure physiology phenotype",
+ "renal system",
+ "digestive system morphology phenotype",
+ "Abnormality of the urinary system",
+ "renal/urinary system phenotype",
+ "anatomical entity hypoplasia",
+ "forelimb bone",
+ "upper urinary tract phenotype",
"decreased length of digit 1 or 5",
- "developmental process rate phenotype",
+ "decreased length of forelimb bone",
+ "decreased length of bone element",
+ "limb long bone morphology phenotype",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of anatomical entity",
+ "radius bone hypoplasia",
+ "Forearm undergrowth",
+ "decreased size of the anatomical entity",
+ "forelimb long bone",
+ "Abnormal forearm morphology",
+ "testis phenotype",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "structure with developmental contribution from neural crest",
+ "Abnormality of the hand",
+ "radius bone",
+ "heart",
+ "Limb undergrowth",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased length of skeletal element",
+ "decreased size of the material anatomical entity",
+ "decreased size of the long bone",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the bone of pectoral complex",
+ "bone of pectoral complex",
+ "decreased length of anatomical entity",
+ "Hydronephrosis",
"decreased length of organism subdivision",
+ "decreased size of the mesoderm-derived structure",
+ "decreased length of bone of free limb or fin",
+ "Abnormal testis morphology",
+ "cardiovascular system phenotype",
+ "decreased size of the bone of free limb or fin",
"specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb skeleton subdivision phenotype",
- "regulation of metabolic process phenotype",
- "musculature phenotype",
+ "decreased length of arm bone",
+ "decreased size of the limb bone",
+ "multi-tissue structure",
+ "limb long bone phenotype",
+ "forelimb zeugopod bone",
+ "decreased length of manual digit 1 or 5",
+ "decreased length of multicellular anatomical structure",
+ "kidney",
+ "Growth delay",
+ "radius bone phenotype",
+ "decreased length of digit 1",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "acropodium region",
+ "decreased size of the limb endochondral element",
+ "appendage musculature phenotype",
+ "forelimb bone phenotype",
+ "decreased length of limb endochondral element",
+ "Short forearm",
+ "delayed biological_process",
+ "decreased length of material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormal forearm bone morphology",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased size of the bone element",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "bone of pectoral complex morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "organ",
"decreased size of the anatomical structure",
- "developmental process",
- "multicellular organism morphology phenotype",
"decreased size of the material anatomical entity in the pectoral complex",
- "manual digit 1 or 5",
- "developmental process phenotype",
- "quality",
- "Abnormal cellular phenotype",
- "decreased multicellular organism development",
- "organ phenotype",
- "skeleton",
- "musculature",
- "skeletal system",
- "decreased size of the digit",
- "anatomical entity morphology in the manus phenotype",
- "decreased size of the anatomical entity",
- "musculoskeletal system phenotype",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "manual digit 1 morphology phenotype",
- "Abnormality of the integument",
- "appendage",
- "decreased size of the material anatomical entity",
- "lateral structure phenotype",
- "biological regulation",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "bone of free limb or fin",
- "subdivision of skeleton phenotype",
- "Abnormality of head or neck",
- "decreased multicellular organismal process",
- "anatomical collection phenotype",
- "homeostatic process phenotype",
- "organism subdivision",
- "Abnormality of limb bone",
- "arm phenotype",
- "Abnormal bone marrow cell morphology",
- "Abnormality of blood and blood-forming tissues",
+ "decreased size of the endochondral element",
+ "decreased length of forelimb endochondral element",
+ "Aplasia/hypoplasia involving forearm bones",
+ "deviation of anatomical entity",
+ "long bone phenotype",
+ "forelimb zeugopod bone phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "increased size of the anatomical structure",
+ "primary circulatory organ",
+ "localised organ",
+ "thoracic segment organ",
+ "renal pelvis/ureter",
+ "phenotype",
+ "Fetal pyelectasis",
+ "embryonic development/birth phenotype",
+ "Abnormal fetal genitourinary system morphology",
+ "organ part",
+ "external genitalia phenotype",
+ "multicellular organism phenotype",
+ "decreased length of autopodial extension",
+ "organ part phenotype",
+ "Abnormal renal morphology",
+ "increased size of the organ part",
+ "Fetal anomaly",
+ "renal pelvis morphology phenotype",
+ "anatomical cluster",
+ "manual digitopodium region",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "decreased length of digit",
+ "anatomical conduit",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Dilatation of the renal pelvis",
+ "Gastrointestinal atresia",
+ "late embryo",
+ "limb",
+ "increased size of the anatomical entity",
+ "increased size of the material anatomical entity",
+ "biological_process",
+ "genitourinary system phenotype",
+ "dilated anatomical entity",
+ "embryo",
+ "increased size of the anatomical conduit",
+ "anus atresia",
+ "Short long bone",
+ "reproductive organ",
+ "Abnormal fetal morphology",
+ "increased size of the multicellular anatomical structure",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the genital system",
+ "testis",
+ "large intestine morphology phenotype",
+ "localised reproductive structure",
+ "reproductive system phenotype",
+ "Cryptorchidism",
+ "heart plus pericardium",
+ "subdivision of tube",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "reproductive structure phenotype",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "external genitalia",
"disconnected anatomical group",
- "programmed DNA elimination by chromosome breakage phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "anatomical structure development",
- "Intrauterine growth retardation",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "increased qualitatively biological_process",
- "Aplasia/Hypoplasia affecting the eye",
- "skin of body morphology phenotype",
- "decreased qualitatively biological_process",
- "programmed DNA elimination",
- "occurrent",
- "Chromosomal breakage induced by crosslinking agents",
- "decreased biological_process",
- "anatomical structure development phenotype",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "growth",
- "decreased anatomical structure development",
- "appendicular skeleton phenotype",
- "Growth abnormality",
+ "male reproductive organ",
+ "gonad phenotype",
+ "reproductive structure",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
+ "external male genitalia phenotype",
+ "decreased size of the organism subdivision",
+ "anterior region of body",
+ "decreased length of manual digit 1",
+ "rectum phenotype",
+ "paired limb/fin",
+ "decreased size of the digit",
+ "Short thumb",
"Short digit",
- "embryo development phenotype",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organismal process phenotype",
- "decreased length of anatomical entity",
- "decreased developmental process",
- "Abnormality of the eye",
- "decreased qualitatively embryo development",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "bone marrow",
- "multicellular organism development phenotype",
- "decreased qualitatively multicellular organism development",
- "decreased qualitatively developmental process",
- "digit 1 plus metapodial segment",
- "limb bone morphology phenotype",
- "integumental system phenotype"
+ "decreased size of the forelimb bone",
+ "deviation of manual digit 1",
+ "Abnormal morphology of the radius",
+ "Deviation of the hand or of fingers of the hand",
+ "deviation of manual digit",
+ "Growth abnormality",
+ "cardiovascular system morphology phenotype",
+ "decreased size of the skeletal element",
+ "reproductive organ phenotype",
+ "viscus",
+ "circulatory organ",
+ "heart morphology phenotype",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "External genital hypoplasia",
+ "tube",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "arm bone phenotype",
+ "delayed growth",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased size of the multicellular organism",
+ "regulation of cellular process",
+ "decreased height of the anatomical entity",
+ "growth phenotype",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth"
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0010953",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
+ "name": "Fanconi anemia complementation group E",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
"xref": [
- "DOID:0111080",
- "GARD:16213",
- "MEDGEN:934619",
- "OMIM:617243",
- "UMLS:C4310652"
+ "DOID:0111084",
+ "GARD:15324",
+ "MEDGEN:463628",
+ "NCIT:C125709",
+ "OMIM:600901",
+ "UMLS:C3160739"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia"
+ "FANCE",
+ "FANCE Fanconi anaemia",
+ "FANCE Fanconi anemia",
+ "Fanconi Anemia, complementation group type E",
+ "Fanconi anaemia caused by mutation in FANCE",
+ "Fanconi anaemia complementation group type E",
+ "Fanconi anemia caused by mutation in FANCE",
+ "Fanconi anemia complementation group E",
+ "Fanconi anemia complementation group type E",
+ "Fanconi anemia, complementation group E",
+ "face"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
"HP:0001875",
+ "HP:0009777",
+ "HP:0001249",
+ "HP:0000086",
+ "HP:0000252",
+ "HP:0000815",
+ "HP:0000104",
+ "HP:0001017",
+ "HP:0001876",
+ "HP:0000028",
+ "HP:0003974",
"HP:0001873",
- "HP:0005528",
- "HP:0006254",
+ "HP:0009778",
+ "HP:0001896",
+ "HP:0000568",
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+ "HP:0001263",
"HP:0003221",
+ "HP:0009943",
+ "HP:0000978",
+ "HP:0001627",
+ "HP:0000953",
+ "HP:0000957",
"HP:0001903",
+ "HP:0001909",
+ "HP:0000081",
"HP:0004322",
- "HP:0000252"
+ "HP:0000486",
+ "HP:0000365",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000085"
],
"has_phenotype_label": [
"Neutropenia",
+ "Absent thumb",
+ "Intellectual disability",
+ "Ectopic kidney",
+ "Microcephaly",
+ "Hypergonadotropic hypogonadism",
+ "Renal agenesis",
+ "Anemic pallor",
+ "Pancytopenia",
+ "Cryptorchidism",
+ "Absent radius",
"Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
+ "Short thumb",
+ "Reticulocytopenia",
+ "Microphthalmia",
+ "Small for gestational age",
+ "Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
+ "Complete duplication of thumb phalanx",
+ "Bruising susceptibility",
+ "Abnormal heart morphology",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
"Anemia",
+ "Leukemia",
+ "Duplicated collecting system",
"Short stature",
- "Microcephaly"
+ "Strabismus",
+ "Hearing impairment",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Horseshoe kidney"
],
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+ "UBERON:0002495",
+ "UPHENO:0002751",
+ "UBERON:0013702",
+ "UPHENO:0080187",
+ "UPHENO:0069254",
+ "UBERON:0000949",
+ "UBERON:0003466",
+ "HP:0040070",
+ "GO:0006725",
+ "UPHENO:0087501",
+ "HP:0004377",
+ "UPHENO:0008709",
+ "UPHENO:0002594",
+ "UPHENO:0086019",
+ "UPHENO:0026312"
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
+ "3-D shape anatomical entity",
+ "shape anatomical entity",
+ "Horseshoe kidney",
+ "response to stress",
+ "Abnormality of DNA repair",
+ "response to stimulus",
+ "DNA repair",
+ "DNA damage response phenotype",
+ "nucleobase-containing compound metabolic process phenotype",
+ "organic cyclic compound metabolic process",
+ "obsolete cellular aromatic compound metabolic process",
+ "obsolete heterocycle metabolic process",
+ "obsolete cellular nitrogen compound metabolic process",
+ "metabolic process phenotype",
+ "macromolecule metabolic process phenotype",
+ "cell cycle phase",
+ "Abnormality of the cell cycle",
+ "interphase",
+ "ear",
+ "sensory perception",
+ "decreased sensory perception",
+ "decreased nervous system process",
+ "decreased qualitatively multicellular organismal process",
+ "system process phenotype",
+ "sensory perception of sound phenotype",
+ "obsolete nitrogen compound metabolic process",
+ "Abnormal ear physiology",
+ "sensory perception of sound",
+ "decreased qualitatively system process",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception phenotype",
+ "ear physiology phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively nervous system process",
+ "decreased system process",
+ "Hearing impairment",
+ "sense organ physiology phenotype",
+ "nucleic acid metabolic process phenotype",
+ "lateral structure physiology phenotype",
+ "immaterial anatomical entity",
+ "eye movement",
+ "Strabismus",
+ "body part movement",
+ "multicellular organismal process phenotype",
+ "anatomical line",
+ "behavior",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "eye physiology phenotype",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of eye movement",
+ "Atypical behavior",
+ "camera-type eye physiology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Short stature",
+ "size of multicellular organism phenotype",
+ "delayed biological_process",
+ "Abnormality of body height",
+ "Abnormal renal collecting system morphology",
+ "macromolecule metabolic process",
+ "Duplicated collecting system",
+ "Neoplasm",
+ "Leukemia",
+ "neoplasm phenotype",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Macule",
+ "biological_process rate phenotype",
+ "increased qualitatively biological_process",
+ "Hyperpigmentation of the skin",
+ "Abnormal heart morphology",
+ "Abnormal cardiovascular system morphology",
+ "heart morphology phenotype",
+ "circulatory organ",
+ "heart plus pericardium",
+ "thoracic cavity element",
+ "vascular system",
+ "Abnormality of the vasculature",
+ "Abnormality of the cardiovascular system",
+ "anatomical cluster phenotype",
+ "Generalized abnormality of skin",
+ "Vascular skin abnormality",
+ "vasculature",
+ "pigmentation",
+ "Abnormal finger phalanx morphology",
+ "Duplication of thumb phalanx",
+ "Complete duplication of thumb phalanx",
+ "manual digit 1 phalanx",
+ "manual digit bone",
+ "eye movement phenotype",
+ "manual digit digitopodial skeleton",
+ "phalanx endochondral element",
+ "phalanx",
+ "skeleton of manual acropodium",
+ "digitopodium bone",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "pigmentation phenotype",
+ "individual digit of digitopodial skeleton",
+ "regulation of cellular metabolic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular biosynthetic process",
+ "metabolic process",
+ "regulation of cellular biosynthetic process",
+ "DNA metabolic process",
+ "negative regulation of macromolecule metabolic process",
+ "negative regulation of biological process phenotype",
+ "homeostatic process",
+ "regulation of cellular process phenotype",
+ "regulation of biological process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression",
+ "cellular response to stimulus",
+ "Chromosomal breakage induced by crosslinking agents",
+ "negative regulation of macromolecule biosynthetic process",
+ "regulation of cellular metabolic process phenotype",
+ "negative regulation of cellular process phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "regulation of cellular biosynthetic process phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Neurodevelopmental delay",
+ "multicellular organism mass phenotype",
+ "material anatomical entity mass phenotype",
+ "decreased anatomical structure mass",
+ "decreased material anatomical entity mass",
+ "Decreased multicellular organism mass",
+ "camera-type eye",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "entire sense organ system",
+ "Abnormality of the orbital region",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the eye",
+ "face phenotype",
+ "orbital region",
+ "sense organ",
+ "Microphthalmia",
+ "anatomical cluster",
+ "Aplasia/Hypoplasia affecting the eye",
+ "eyeball of camera-type eye phenotype",
+ "visual system",
+ "size of eyeball of camera-type eye phenotype",
+ "simple eye",
+ "sensory system",
+ "face morphology phenotype",
+ "Abnormal eye morphology",
+ "orbital region phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "decreased number of reticulocyte",
+ "enucleated reticulocyte",
+ "reticulocyte",
+ "enucleated reticulocyte morphology phenotype",
+ "decreased length of digit 1",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of autopodial extension",
+ "decreased size of the material anatomical entity",
+ "Short thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of manual digit",
+ "decreased length of anatomical structure",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "decreased size of the anatomical entity",
+ "decreased length of organism subdivision",
+ "negative regulation of metabolic process phenotype",
+ "Short finger",
+ "biological_process phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "aplasia or hypoplasia of radius bone",
+ "forelimb zeugopod bone phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Absent radius",
+ "absent forelimb zeugopod bone",
+ "U-shaped anatomical entity",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "absent bone element in the limb",
+ "forelimb zeugopod morphology phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent long bone",
+ "bone of pectoral complex morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "Abnormal forearm bone morphology",
+ "absent radius bone in the forelimb",
+ "bone of pectoral complex phenotype",
+ "limb long bone morphology phenotype",
+ "absent endochondral bone in the forelimb",
+ "absent limb endochondral element in the limb",
+ "delayed growth",
+ "arm bone phenotype",
+ "simple eye physiology phenotype",
+ "absent organ in the forelimb",
+ "cellular process",
+ "long bone morphology phenotype",
+ "absent endochondral element",
+ "absent organ in the limb",
+ "Aplasia/Hypoplasia of the radius",
+ "vestibulo-auditory system",
+ "absent limb endochondral element",
+ "absent limb bone",
+ "forelimb bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "Absent forearm bone",
+ "decreased size of the organ",
+ "absent forelimb bone",
+ "absent bone element",
+ "Abnormal morphology of the radius",
+ "Reticulocytopenia",
+ "absent forelimb bone in the limb",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "forelimb long bone phenotype",
+ "nervous system process phenotype",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "increased biological_process",
+ "absent bone of free limb or fin",
+ "radius bone phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "regulation of biosynthetic process phenotype",
+ "zeugopod",
+ "decreased length of anatomical entity",
+ "bone of pectoral complex",
+ "nervous system physiology phenotype",
+ "Abnormal long bone morphology",
+ "absent anatomical entity in the limb",
+ "pathological phenotype observation",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased functionality of the gonad",
+ "decreased sensory perception of sound",
+ "anatomical system physiology phenotype",
+ "subdivision of head",
+ "absent mesoderm-derived structure in the forelimb",
+ "appendage girdle complex",
+ "digit phenotype",
+ "Renal hypoplasia/aplasia",
+ "growth",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Hypermelanotic macule",
+ "absent kidney in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "biological regulation phenotype",
+ "limb morphology phenotype",
+ "kinesthetic behavior",
"Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
+ "negative regulation of cellular metabolic process",
+ "Eukaryota",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "Duplication of hand bones",
+ "nervous system process",
+ "skeletal element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "decreased size of the anatomical structure",
+ "organ",
+ "occurrent",
+ "subdivision of skeleton",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "subdivision of skeletal system",
+ "entity",
+ "manual digit 1 phalanx endochondral element",
+ "tissue",
+ "forelimb zeugopod bone morphology phenotype",
+ "behavior process",
+ "absent material anatomical entity in the limb",
+ "Abnormal external genitalia",
+ "acropodial skeleton",
+ "autopod region morphology phenotype",
+ "appendage",
+ "anatomical entity phenotype",
+ "decreased multicellular organismal process",
"root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
+ "localised testis",
+ "Absent thumb",
+ "bone of free limb or fin",
+ "cavitated compound organ phenotype",
+ "aplastic anatomical entity",
+ "decreased length of manual digit 1",
+ "anterior region of body",
+ "cardiovascular system",
+ "absent skeletal element",
+ "manual digit morphology in the manus phenotype",
+ "localised cavitated compound organ",
+ "appendicular skeletal system",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "endochondral element",
+ "absent material anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "upper limb segment phenotype",
+ "endochondral element phenotype",
+ "organism subdivision phenotype",
+ "appendage phenotype",
+ "protein-containing material entity",
+ "segment of manus",
+ "decreased biological_process",
+ "aplasia or hypoplasia of anatomical entity",
+ "multi-limb segment region",
+ "manual digit plus metapodial segment",
+ "digit 1 plus metapodial segment",
+ "anatomical entity length phenotype",
+ "digit",
+ "digit 1 or 5 phenotype",
+ "Abnormal digit morphology",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "absent material anatomical entity",
+ "Neoplasm by anatomical site",
+ "Decreased anatomical entity mass",
+ "Abnormality of the upper limb",
+ "limb",
+ "cell",
+ "absent anatomical entity in the renal system",
+ "upper limb segment",
+ "cellular response to stress",
+ "appendicular skeleton",
+ "manual digit 1 digitopodial skeleton",
+ "regulation of gene expression",
+ "absent skeletal element in the forelimb",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
+ "absent organism subdivision",
+ "Neurodevelopmental abnormality",
+ "manus phenotype",
+ "head",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "axial skeleton plus cranial skeleton",
+ "Abnormal hand morphology",
+ "Metazoa",
+ "absent mesoderm-derived structure",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Aplasia/Hypoplasia of fingers",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "skeleton of manus",
+ "skeleton of limb",
+ "Aplasia involving forearm bones",
+ "autopodial extension phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "anatomical collection",
+ "G2 phase",
"nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
- "organ phenotype",
- "Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
+ "All",
+ "Aplasia involving bones of the extremities",
+ "absent bone of pectoral complex",
+ "absent forelimb endochondral element in the forelimb",
+ "paired limb/fin segment phenotype",
+ "absent anatomical structure in the forelimb",
+ "acropodium region",
+ "Intellectual disability",
+ "bone marrow",
+ "Abnormality of the ear",
+ "absent multicellular anatomical structure",
+ "erythrocyte morphology phenotype",
+ "paired limb/fin segment",
+ "Opisthokonta",
+ "Duplication of bones involving the upper extremities",
+ "localised abdominal segment element",
+ "genitourinary system",
+ "decreased size of the digit",
+ "paired limb/fin",
+ "skeleton phenotype",
+ "absent forelimb endochondral element",
+ "limb phenotype",
+ "paired limb/fin skeleton",
+ "arm phenotype",
+ "hematopoietic system",
+ "agenesis of anatomical entity",
+ "nucleobase-containing compound metabolic process",
+ "manus morphology phenotype",
+ "increased pigmentation",
+ "material anatomical entity phenotype",
+ "absent kidney",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "arm",
+ "multicellular anatomical structure mass phenotype",
+ "male reproductive organ phenotype",
+ "manual digit",
+ "limb bone morphology phenotype",
+ "Abnormal skeletal morphology",
+ "anatomical system",
+ "absent anatomical structure in the limb",
+ "Abnormality of thumb phalanx",
+ "decreased number of leukocyte",
+ "decreased size of the sense organ",
+ "anatomical collection phenotype",
+ "quality",
+ "decreased number of platelet",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased number of anatomical entity",
+ "Abnormal cellular phenotype",
+ "abdominal segment element",
+ "decreased number of neutrophil",
+ "renal collecting system phenotype",
+ "musculature",
"regional part of brain",
- "central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
- "Phenotypic abnormality",
+ "Abnormality of limbs",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "skeletal element",
+ "taxon specific phenotype",
+ "granulocyte morphology phenotype",
+ "biological phase",
+ "autopod bone",
"mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
+ "cell phenotype",
+ "obsolete cell",
+ "programmed DNA elimination",
+ "anatomical entity morphology phenotype",
+ "Abnormal localization of kidney",
+ "size of skull phenotype",
+ "digit 1",
+ "face",
+ "aplasia or hypoplasia of manual digit",
+ "bone cell",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of metabolic process phenotype",
+ "leukocyte morphology phenotype",
+ "circulatory system",
+ "bone marrow cell",
+ "Pancytopenia",
+ "subdivision of organism along appendicular axis phenotype",
+ "eye phenotype",
+ "Abnormal cellular immune system morphology",
+ "absent multicellular anatomical structure in the limb",
+ "endocrine system phenotype",
+ "multicellular organism morphology phenotype",
"skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
+ "cavitated compound organ",
+ "Abnormal leukocyte count",
"number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
- "negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
+ "Abnormal myeloid cell morphology",
+ "U-shaped kidney",
+ "digit 1 or 5",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "subdivision of skeletal system phenotype",
+ "Abnormal reticulocyte morphology",
+ "number of hematopoietic cell phenotype",
+ "postcranial axial skeleton",
+ "absent radius endochondral element",
+ "skeleton",
+ "Abnormal bleeding",
"immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
+ "decreased functionality of the organ",
+ "aplasia or hypoplasia of manual digit 1",
+ "reproductive system physiology phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "anatomical entity",
+ "absent autopodial extension",
+ "hematopoietic system phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "autopod region",
+ "organism",
+ "Abnormal immune system morphology",
+ "number of platelet phenotype",
+ "external genitalia",
+ "skeleton of pectoral complex",
+ "eukaryotic cell",
"Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
+ "specifically dependent continuant",
+ "arm bone",
+ "Abnormal myeloid leukocyte morphology",
+ "absent forelimb zeugopod bone in the forelimb",
+ "Abnormal erythrocyte morphology",
+ "Abnormal finger morphology",
+ "structure with developmental contribution from neural crest phenotype",
+ "manual digit 1 morphology phenotype",
+ "absent long bone in the forelimb",
+ "Abnormal erythroid lineage cell morphology",
+ "myeloid cell",
+ "immune system",
+ "organ system subdivision",
+ "erythrocyte",
+ "decreased number of cell",
+ "Prolonged G2 phase of cell cycle",
+ "pectoral appendage skeleton",
+ "Abnormality of skin pigmentation",
"phenotypic effect",
+ "size of anatomical entity phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "organ physiology phenotype",
+ "Abnormal cell morphology",
+ "phenotype",
+ "limb endochondral element",
+ "digit plus metapodial segment",
+ "skeletal system phenotype",
+ "absent anatomical entity",
+ "Bruising susceptibility",
+ "absent compound organ in the renal system",
+ "Complete duplication of phalanx of hand",
+ "limb bone",
+ "granulocyte",
+ "bone of appendage girdle complex phenotype",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "shape kidney",
+ "ectoderm-derived structure physiology phenotype",
+ "negative regulation of metabolic process",
+ "nervous system morphology phenotype",
+ "manual digit 1 or 5",
+ "myeloid leukocyte",
+ "increased pigmentation in skin of body",
+ "Phenotypic abnormality",
+ "manual digitopodium bone",
+ "localised lateral structure",
+ "vision/eye phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "organism subdivision",
+ "cell cycle phenotype",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "neutrophil phenotype",
+ "external male genitalia",
+ "aplasia or hypoplasia of skeleton",
+ "cellular response to stress phenotype",
+ "craniocervical region morphology phenotype",
+ "localised multicellular anatomical structure",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "non-connected functional system",
+ "absent bone of appendage girdle complex in the limb",
"number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
- "negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
+ "number of leukocyte phenotype",
+ "platelet",
+ "decreased length of digit 1 or 5",
"hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
- "biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormal limb bone morphology",
+ "absent digit",
+ "musculoskeletal system",
+ "absent material anatomical entity in the forelimb",
+ "manual digit phenotype",
+ "anatomical system phenotype",
+ "musculature phenotype",
+ "number of myeloid cell phenotype",
+ "DNA metabolic process phenotype",
+ "multi-limb segment region phenotype",
+ "hemolymphoid system",
"decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
+ "absent mesoderm-derived structure in the limb",
+ "autopod region phenotype",
+ "Abnormal nervous system physiology",
+ "Abnormality of the immune system",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical structure mass phenotype",
+ "multicellular organism",
+ "decreased functionality of the anatomical structure",
+ "Thrombocytopenia",
+ "leukocyte",
+ "increased biological_process in skin of body",
+ "decreased size of the multicellular anatomical structure",
+ "localised anatomical entity",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cellular response to stimulus phenotype",
+ "absent bone element in the forelimb",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "decreased number of hematopoietic cell",
+ "absent anatomical entity in the forelimb",
+ "multicellular anatomical structure",
+ "primary metabolic process",
+ "Abnormality of the skin",
+ "forelimb endochondral element",
+ "Abnormality of globe size",
+ "bone element phenotype",
+ "cell cycle",
+ "pectoral complex",
+ "decreased size of the manual digit",
+ "trunk region element",
+ "absent limb long bone in the forelimb",
+ "Anemic pallor",
+ "cellular metabolic process",
+ "superficial fascia",
+ "Abnormality of neutrophils",
+ "Microcephaly",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "digit 1 digitopodial skeleton",
+ "decreased number of myeloid cell",
+ "decreased size of the autopodial extension",
+ "absent bone of pectoral complex in the limb",
+ "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "Abnormal granulocyte morphology",
+ "glandular system",
+ "Abnormal male external genitalia morphology",
+ "subdivision of head phenotype",
+ "blood cell phenotype",
+ "decreased number of granulocyte",
+ "multicellular anatomical structure phenotype",
+ "regulation of metabolic process",
+ "Decreased body weight",
+ "decreased size of the ectoderm-derived structure",
+ "manual digit 1",
+ "autopodial extension",
+ "absent trunk region element in the renal system",
"continuant",
+ "paired limb/fin phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "musculature of body",
+ "camera-type eye phenotype",
+ "manus",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "integument phenotype",
+ "Abnormal eye physiology",
+ "segment of autopod",
+ "response to stimulus phenotype",
+ "reproductive system",
+ "anatomical entity morphology in the manus phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "anatomical line between pupils",
+ "independent continuant",
+ "aplastic manual digit 1",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "anatomical structure",
+ "localised trunk region element",
+ "absent lateral structure",
+ "Anemia",
+ "manus bone",
+ "Abnormality of the hand",
+ "radius bone",
+ "Subcutaneous hemorrhage",
+ "absent organism subdivision in the multicellular organism",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Hypogonadism",
+ "absent multicellular anatomical structure in the forelimb",
+ "abdomen element phenotype",
+ "limb segment",
+ "cellular organisms",
+ "Abnormal neutrophil count",
+ "forelimb morphology phenotype",
+ "absent manual digit",
+ "Abnormal thumb morphology",
+ "subdivision of trunk",
+ "subdivision of organism along appendicular axis",
+ "absent anatomical structure in the multicellular organism",
+ "telencephalon phenotype",
+ "male reproductive system phenotype",
+ "autopodial skeleton",
+ "DNA damage response",
+ "lateral structure",
+ "cellular process phenotype",
+ "multicellular organism phenotype",
+ "external genitalia phenotype",
+ "system process",
+ "Abnormality of mental function",
+ "external male genitalia phenotype",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "Hypergonadotropic hypogonadism",
+ "material anatomical entity physiology phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "reproductive structure physiology phenotype",
+ "behavior phenotype",
+ "forelimb zeugopod bone",
+ "nervous system",
+ "renal system",
+ "endochondral bone phenotype",
+ "cognition",
+ "absent abdominal segment element",
+ "localised anatomical structure",
+ "simple eye phenotype",
+ "abdomen element",
+ "absent anatomical structure",
+ "localised kidney",
+ "skeletal system morphology phenotype",
+ "kidney phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent cavitated compound organ",
+ "Abnormal renal morphology",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "renal system phenotype",
+ "nucleic acid metabolic process",
+ "absent endochondral bone in the limb",
+ "renal collecting system",
+ "immune system morphology phenotype",
+ "Ectopic kidney",
+ "Hearing abnormality",
+ "absent anatomical structure in the renal system",
+ "primary circulatory organ",
+ "skeleton of manual digitopodium",
+ "absent endochondral bone",
+ "localised organ",
+ "body proper",
+ "DNA repair phenotype",
+ "skeleton of digitopodium",
+ "Short digit",
+ "absent multicellular anatomical structure in the renal system",
+ "eye",
+ "compound organ",
+ "zeugopodial skeleton",
+ "limb long bone",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
+ "manual digit 1 plus metapodial segment",
+ "abdomen",
+ "compound organ phenotype",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "renal system morphology phenotype",
+ "localised male reproductive organ",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "lateral structure phenotype",
+ "decreased functionality of the anatomical entity",
+ "Irregular hyperpigmentation",
+ "male organism",
"negative regulation of gene expression phenotype",
+ "localised compound organ",
+ "Abnormal granulocyte count",
+ "skin of body phenotype",
+ "Abnormality of the kidney",
+ "trunk",
+ "absent trunk region element in the multicellular organism",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "excretory system",
"subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
+ "Abnormal conjugate eye movement",
+ "renal/urinary system phenotype",
+ "forelimb bone",
+ "postcranial axial skeletal system",
+ "kidney morphology phenotype",
+ "Abnormal reproductive system morphology",
+ "upper urinary tract phenotype",
+ "integument",
+ "platelet phenotype",
+ "biological_process",
+ "genitourinary system phenotype",
+ "decreased length of digit",
+ "manual digitopodium region",
"Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
+ "Abnormality of the male genitalia",
+ "upper urinary tract",
+ "Growth delay",
+ "kidney",
+ "regional part of nervous system",
+ "telencephalon morphology phenotype",
+ "skull phenotype",
+ "forelimb",
+ "Abnormal forebrain morphology",
+ "organic substance metabolic process",
+ "heart",
"Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
+ "limb long bone phenotype",
+ "multi-tissue structure",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Decreased head circumference",
+ "Abnormality of the nervous system",
+ "central nervous system morphology phenotype",
+ "cardiovascular system morphology phenotype",
+ "Growth abnormality",
+ "axial skeletal system",
+ "absent arm bone",
+ "reproductive organ",
+ "primary metabolic process phenotype",
+ "forebrain morphology phenotype",
+ "Abnormality of body weight",
"aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
- "oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
+ "decreased size of the multicellular organism",
+ "Abnormal bone marrow cell morphology",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "Abnormality of skull size",
+ "craniocervical region",
+ "Abnormality of the urinary system",
+ "Morphological central nervous system abnormality",
+ "subdivision of organism along main body axis phenotype",
"regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
+ "system",
+ "brain morphology phenotype",
+ "forelimb skeleton",
+ "endocrine system",
+ "head morphology phenotype",
+ "Hematological neoplasm",
+ "regional part of nervous system phenotype",
+ "decreased length of manual digit 1 or 5",
+ "decreased functionality of the multicellular anatomical structure",
+ "ectoderm-derived structure phenotype",
+ "Abnormal axial skeleton morphology",
+ "non-material anatomical boundary",
+ "absent limb bone in the forelimb",
"erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth"
- ],
- "has_phenotype_count": 8,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0013565",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group G",
- "full_name": null,
- "deprecated": null,
- "description": "Fanconi anemia caused by mutations of the FANCG gene.",
- "xref": [
- "DOID:0111086",
- "GARD:15753",
- "MEDGEN:854017",
- "NCIT:C125708",
- "OMIM:614082",
- "UMLS:C3469527"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "FANCG",
- "Fanconi Anemia, complementation group type G",
- "Fanconi anaemia complementation group type G",
- "Fanconi anemia complementation group G",
- "Fanconi anemia complementation group type G",
- "Fanconi anemia, complementation group G"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001875",
- "HP:0002863",
- "HP:0001510",
- "HP:0001873",
- "HP:0007565",
- "HP:0000568",
- "HP:0001172",
- "HP:0001903",
- "HP:0003220",
- "HP:0001909",
- "HP:0000252"
- ],
- "has_phenotype_label": [
- "Neutropenia",
- "Myelodysplasia",
- "Growth delay",
- "Thrombocytopenia",
- "Multiple cafe-au-lait spots",
- "Microphthalmia",
- "Abnormal thumb morphology",
- "Anemia",
+ "telencephalon",
+ "head phenotype",
+ "structure with developmental contribution from neural crest",
+ "ectoderm-derived structure",
+ "decreased sensory perception of mechanical stimulus",
+ "phalanx of manus",
+ "negative regulation of biosynthetic process",
+ "material entity",
+ "long bone",
+ "cranial skeletal system",
+ "craniocervical region phenotype",
+ "brain",
+ "Abnormality of head or neck",
+ "Abnormal skull morphology",
+ "Abnormal brain morphology",
+ "absent material anatomical entity in the skeletal system",
+ "limb skeleton subdivision",
+ "location of anatomical entity phenotype",
+ "skull",
+ "autopod endochondral element",
+ "homeostatic process phenotype",
+ "Abnormality of limb bone",
+ "central nervous system",
+ "Abnormality of the genital system",
+ "reproductive organ physiology phenotype",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "myeloid leukocyte phenotype",
+ "forebrain",
+ "gonad physiology phenotype",
+ "nucleate cell",
+ "reproductive structure phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "limb endochondral element phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "absent arm bone in the forelimb",
+ "viscus",
+ "anatomical entity mass phenotype",
+ "reproductive organ phenotype",
+ "sense organ phenotype",
+ "Abnormality of reproductive system physiology",
+ "absent lateral structure in the renal system",
+ "behavior process phenotype",
+ "reproductive system phenotype",
+ "skull morphology phenotype",
+ "localised reproductive structure",
+ "gonad phenotype",
+ "immaterial entity",
"Abnormality of chromosome stability",
- "Leukemia",
- "Microcephaly"
- ],
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0009121",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "HP:0000252",
- "UBERON:0011138",
- "UBERON:0011137",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0001016",
- "UPHENO:0004802",
- "UBERON:0001890",
- "HP:0000240",
- "UPHENO:0049904",
- "HP:0001939",
- "GO:0008152",
- "GO:0042592",
- "UPHENO:0088170",
- "CL:0000764",
- "UPHENO:0088162",
- "UPHENO:0080200",
- "UBERON:0010707",
- "UPHENO:0002586",
- "UPHENO:0002983",
- "UBERON:0010323",
- "UBERON:0002529",
- "UBERON:0001460",
- "UBERON:0010740",
- "UBERON:0004710",
- "UPHENO:0003065",
- "UPHENO:0002559",
- "UPHENO:0003227",
- "UBERON:0000075",
- "UPHENO:0002945",
- "UBERON:0002101",
- "UBERON:0019221",
- "UBERON:0005944",
- "UPHENO:0084763",
- "HP:0001909",
- "UBERON:0012141",
- "UPHENO:0003799",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0040068",
- "UPHENO:0003005",
- "UPHENO:0002593",
- "UPHENO:0002736",
- "HP:0001167",
- "UBERON:0010538",
- "UBERON:0006058",
- "UBERON:5006048",
- "UPHENO:0003095",
- "UBERON:0000026",
- "UPHENO:0003069",
- "UPHENO:0002632",
- "UPHENO:0004909",
- "UPHENO:0003812",
- "UPHENO:0002746",
- "UBERON:0010712",
- "HP:0002977",
- "RO:0002577",
- "HP:0001155",
- "UPHENO:0087006",
- "UBERON:0002428",
- "UPHENO:0002648",
- "UPHENO:0002896",
- "UPHENO:0002870",
- "UPHENO:0002708",
- "UBERON:0012140",
- "UBERON:0010912",
- "UPHENO:0084448",
- "CL:0000151",
- "UPHENO:0074575",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "BFO:0000003",
- "UBERON:0000467",
- "HP:0011017",
- "BFO:0000015",
- "GO:0008150",
- "UPHENO:0000541",
- "HP:0012639",
- "CL:0000775",
- "HP:0001507",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010974",
- "UBERON:0002405",
- "HP:0033127",
- "UBERON:0002097",
- "UBERON:5001463",
- "UPHENO:0003415",
- "UPHENO:0063787",
- "UBERON:0000062",
- "UPHENO:0004064",
- "HP:0001877",
- "HP:0007400",
- "HP:0002060",
- "UBERON:0001062",
- "UPHENO:0005214",
- "UPHENO:0003410",
- "HP:0000118",
- "UBERON:0006048",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002944",
- "UPHENO:0002910",
- "HP:0001871",
- "CL:0000255",
- "CL:0000738",
- "UPHENO:0001001",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0088176",
- "UPHENO:0050008",
- "HP:0000271",
- "UPHENO:0002963",
- "UBERON:0001017",
- "HP:0001903",
- "UBERON:0034925",
- "UBERON:0002398",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0086172",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0075804",
- "CL:0000232",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "UPHENO:0074584",
- "UBERON:0000019",
- "HP:0001874",
- "UPHENO:0004459",
- "HP:0007364",
- "CL:0000233",
- "UBERON:0001893",
- "UPHENO:0079876",
- "UBERON:0000061",
- "CL:0000766",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0077373",
- "BFO:0000004",
- "HP:0004377",
- "HP:0000152",
- "UPHENO:0086176",
- "BFO:0000002",
- "UBERON:0002090",
- "UBERON:0000047",
- "CL:0000225",
- "CL:0000094",
- "UPHENO:0002530",
- "CL:0000988",
- "UPHENO:0002525",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CL:0000763",
- "UBERON:0002389",
- "HP:0005561",
- "UBERON:0004765",
- "CL:0000457",
- "UPHENO:0086700",
- "HP:0001881",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "UPHENO:0085356",
- "HP:0011873",
- "UPHENO:0005058",
- "CL:0002242",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "UPHENO:0002764",
+ "anatomical entity dysfunction in independent continuant",
+ "Neutropenia",
+ "reproductive structure",
+ "vasculature phenotype",
+ "growth phenotype",
+ "Abnormality of the endocrine system",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "neutrophil",
+ "absent abdomen element",
+ "decreased number of anatomical structure",
+ "absent cavitated compound organ in the renal system",
+ "number of anatomical enitites of type organ phenotype",
+ "Duplication of phalanx of hand",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "absent organ",
+ "manual digit phalanx endochondral element",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "decreased functionality of the reproductive structure",
+ "Cryptorchidism",
+ "biological regulation",
+ "Global developmental delay",
+ "abdominal segment of trunk",
+ "absent trunk region element",
+ "Renal agenesis",
+ "motile cell",
+ "absent abdominal segment element in the renal system",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent organ in the renal system",
+ "digit morphology phenotype",
+ "absent abdomen element in the renal system",
+ "absent material anatomical entity in the renal system",
+ "Abnormal platelet count",
+ "absent compound organ",
+ "oxygen accumulating cell",
+ "Abnormality of the integument",
+ "erythroid lineage cell morphology phenotype",
+ "sensory perception of mechanical stimulus",
+ "Abnormal upper limb bone morphology",
+ "skin of body",
+ "integumental system",
+ "material anatomical entity",
+ "skin of body morphology phenotype",
+ "Abnormal skin morphology",
+ "shape of continuant phenotype",
+ "anucleate cell",
+ "Abnormality of thrombocytes",
+ "limb bone phenotype",
+ "secretory cell",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "absent bone of appendage girdle complex",
+ "organ phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal platelet morphology",
+ "testis",
+ "localised reproductive organ",
+ "gonad",
+ "localised gonad",
+ "male reproductive system",
+ "cardiovascular system phenotype",
+ "localised abdomen element",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
+ "male reproductive organ",
+ "testis phenotype",
+ "response to stress phenotype",
+ "Small for gestational age",
+ "Abnormal forearm morphology",
+ "absent forelimb bone in the forelimb",
+ "absent limb bone in the limb",
+ "aplastic forelimb zeugopod bone",
+ "forelimb long bone",
+ "serotonin secreting cell",
+ "craniofacial/craniocervical phenotype",
+ "absent forelimb long bone in the forelimb",
+ "radius endochondral element",
+ "Abnormal cellular physiology",
+ "absent anatomical entity in the skeletal system",
+ "Aplasia involving bones of the upper limbs",
+ "Abnormal cerebral morphology",
+ "limb segment phenotype",
+ "absent endochondral element in the limb",
+ "Abnormal nervous system morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb zeugopod",
+ "absent limb long bone",
+ "absent limb endochondral element in the forelimb",
+ "regulation of biological process phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent skeletal element in the limb",
+ "Pallor",
+ "absent radius bone",
+ "absent anatomical structure in the skeletal system"
+ ],
+ "has_phenotype_count": 32,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0012187",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group J",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
+ "xref": [
+ "DOID:0111097",
+ "GARD:15449",
+ "MEDGEN:323015",
+ "MESH:C563801",
+ "NCIT:C129027",
+ "OMIM:609054",
+ "UMLS:C1836860"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FANCJ",
+ "Fanconi Anemia, complementation group type J",
+ "Fanconi anaemia complementation group type J",
+ "Fanconi anemia complementation group J",
+ "Fanconi anemia complementation group type J",
+ "Fanconi anemia, complementation group J"
+ ],
+ "uri": null,
+ "iri": null,
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],
"has_phenotype_closure_label": [
- "nervous system",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "skull",
- "cranial skeletal system phenotype",
- "regional part of brain phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "skull phenotype",
- "regional part of nervous system phenotype",
- "postcranial axial skeleton",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Eukaryota",
- "multi-tissue structure phenotype",
- "central nervous system",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "Leukemia",
- "Abnormal cellular physiology",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormality of chromosome stability",
+ "negative regulation of cellular biosynthetic process",
"metabolic process",
+ "negative regulation of cellular metabolic process",
+ "Chromosome breakage",
+ "negative regulation of biological process phenotype",
"homeostatic process",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "oxygen accumulating cell",
- "brain",
- "erythrocyte",
- "skeleton phenotype",
- "arm phenotype",
- "anatomical collection phenotype",
- "manual digit 1 morphology phenotype",
- "anatomical entity morphology in the manus phenotype",
- "subdivision of skeletal system phenotype",
- "limb skeleton subdivision phenotype",
- "obsolete cell",
- "bone of appendage girdle complex phenotype",
- "manual digitopodium region",
- "limb morphology phenotype",
- "paired limb/fin skeleton",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Chromosomal breakage induced by crosslinking agents",
+ "regulation of metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
"Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "limb segment phenotype",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "paired limb/fin phenotype",
- "manus phenotype",
- "subdivision of skeleton",
- "autopod region phenotype",
- "Abnormality of the hand",
- "autopod region morphology phenotype",
- "paired limb/fin segment",
- "multi-limb segment region",
- "autopodial extension",
- "digit plus metapodial segment",
- "appendage phenotype",
- "Abnormal finger morphology",
- "limb bone",
- "skeleton of limb",
- "manus",
- "limb endochondral element phenotype",
- "forebrain morphology phenotype",
- "endochondral bone phenotype",
- "segment of autopod",
- "upper limb segment",
- "platelet",
- "digit 1 or 5 phenotype",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "Abnormality of globe size",
- "system",
- "Thrombocytopenia",
- "biological_process",
+ "regulation of cellular metabolic process",
+ "regulation of metabolic process",
+ "negative regulation of biological process",
+ "obsolete cell",
+ "biological regulation phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "programmed DNA elimination",
+ "nervous system",
+ "material anatomical entity physiology phenotype",
+ "Abnormality of the nervous system",
+ "anatomical entity physiology phenotype",
+ "Neurodevelopmental abnormality",
+ "nervous system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "Global developmental delay",
+ "camera-type eye",
+ "Abnormality of head or neck",
+ "Abnormality of the face",
+ "eyeball of camera-type eye",
+ "decreased size of the eyeball of camera-type eye",
+ "craniocervical region phenotype",
+ "main body axis",
+ "subdivision of organism along main body axis",
"Abnormality of the orbital region",
- "occurrent",
- "Growth delay",
+ "regulation of macromolecule biosynthetic process",
+ "head phenotype",
+ "camera-type eye morphology phenotype",
+ "biological regulation",
+ "regulation of cellular biosynthetic process",
+ "Abnormality of globe size",
+ "face phenotype",
+ "head morphology phenotype",
+ "orbital region",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region",
+ "body proper",
+ "Abnormal nervous system physiology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "eyeball of camera-type eye phenotype",
+ "visual system",
+ "regulation of cellular process",
+ "craniofacial/craniocervical phenotype",
+ "Abnormality of the head",
+ "sense organ phenotype",
+ "simple eye",
+ "face morphology phenotype",
+ "homeostatic process phenotype",
+ "subdivision of head phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "increased pigmentation in skin of body",
+ "structure with developmental contribution from neural crest",
"ectoderm-derived structure",
- "cellular organisms",
- "pectoral complex",
- "Myelodysplasia",
+ "Irregular hyperpigmentation",
+ "ectoderm-derived structure phenotype",
+ "skin of body phenotype",
+ "pigmentation",
+ "Abnormality of the integument",
+ "endochondral element",
+ "organism subdivision phenotype",
+ "multi-limb segment region",
+ "digit 1 or 5 phenotype",
+ "limb segment phenotype",
+ "organism subdivision",
+ "vision/eye phenotype",
"anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "Abnormal digit morphology",
- "digit 1",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "growth phenotype",
- "manus morphology phenotype",
+ "process",
+ "digit 1 plus metapodial segment",
+ "negative regulation of cellular process phenotype",
+ "decreased size of the autopodial extension",
+ "negative regulation of macromolecule biosynthetic process",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "regulation of biological process",
+ "digit 1 phenotype",
+ "bone of appendage girdle complex",
+ "integumental system",
+ "anatomical entity morphology in the manus phenotype",
+ "independent continuant",
+ "decreased multicellular organism development",
+ "decreased length of digit 1",
+ "decreased biological_process",
+ "Aplasia/hypoplasia of the extremities",
+ "decreased size of the digit",
+ "negative regulation of metabolic process",
+ "musculature phenotype",
+ "sense organ",
+ "anatomical system phenotype",
+ "craniocervical region morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "bone of free limb or fin",
+ "digit morphology phenotype",
"musculature of body",
- "bone element",
- "skeletal system",
- "camera-type eye morphology phenotype",
- "neutrophil phenotype",
- "digitopodium region",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "specifically dependent continuant",
- "limb endochondral element",
- "decreased number of anatomical structure",
- "subdivision of organism along appendicular axis phenotype",
- "decreased number of cell",
- "paired limb/fin segment phenotype",
- "organ system subdivision phenotype",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "number of anatomical enitites of type neutrophil phenotype",
- "increased qualitatively biological_process",
- "Neutropenia",
- "forelimb",
- "Abnormal cellular phenotype",
+ "Neurodevelopmental delay",
+ "pectoral appendage",
"aplasia or hypoplasia of eyeball of camera-type eye",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "blood cell phenotype",
- "hematopoietic system",
- "neoplasm phenotype",
- "Microphthalmia",
- "manual digit 1 or 5",
- "bone cell",
- "visual system phenotype",
- "digit phenotype",
- "delayed growth",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
- "Irregular hyperpigmentation",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "skull morphology phenotype",
- "motile cell",
- "process",
- "serotonin secreting cell",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "head",
- "hemolymphoid system",
- "hematopoietic cell",
- "manual digit morphology in the manus phenotype",
- "number of anatomical enitites of type granulocyte phenotype",
- "Abnormality of the eye",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "pectoral appendage phenotype",
- "Abnormal leukocyte count",
- "Abnormal hand morphology",
- "secretory cell",
- "Aplasia/Hypoplasia involving the central nervous system",
"sensory system",
- "skeletal system phenotype",
- "skeletal element",
- "autopodial extension phenotype",
+ "multicellular organism morphology phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "manus",
+ "integument phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "bone marrow",
+ "acropodium region",
+ "digitopodium region",
+ "Aplasia/Hypoplasia of fingers",
+ "limb bone phenotype",
+ "manual digit plus metapodial segment",
+ "protein-containing material entity",
+ "segment of manus",
+ "multicellular organismal process",
+ "limb bone",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormality of skin pigmentation",
+ "skeleton of limb",
+ "Abnormality of the skin",
+ "organ system subdivision phenotype",
+ "anatomical structure",
"musculature",
- "main body axis",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
- "continuant",
- "musculoskeletal system",
- "immune system",
- "limb segment",
- "material entity",
- "leukocyte",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "anatomical system phenotype",
- "tissue",
+ "developmental process rate phenotype",
+ "Abnormal digit morphology",
+ "anterior region of body",
+ "skeletal system",
+ "skin of body",
"Abnormality of the musculoskeletal system",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal limb bone morphology",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "forelimb phenotype",
+ "decreased length of manual digit 1",
+ "forelimb skeleton",
+ "autopod region phenotype",
"taxon specific phenotype",
- "Decreased head circumference",
- "independent continuant",
- "face",
- "sensory system phenotype",
+ "paired limb/fin phenotype",
+ "decreased length of anatomical structure",
+ "decreased developmental process",
+ "autopodial extension phenotype",
+ "Short finger",
+ "skeleton of manus",
+ "mesoderm-derived structure",
+ "paired limb/fin segment phenotype",
+ "developmental process phenotype",
+ "lateral structure",
+ "Short digit",
+ "upper limb segment",
+ "appendicular skeleton",
+ "Abnormal cellular physiology",
+ "forelimb morphology phenotype",
+ "limb segment",
+ "digit 1",
+ "aplasia or hypoplasia of manual digit",
+ "autopod region",
+ "biological_process",
+ "decreased size of the anatomical entity",
"Abnormality of the skeletal system",
- "Neoplasm",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "immune system morphology phenotype",
- "Abnormal cell morphology",
- "erythroid lineage cell",
- "Cafe-au-lait spot",
- "anatomical entity",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "decreased number of leukocyte",
- "Abnormal thumb morphology",
- "eye phenotype",
- "Abnormal granulocyte count",
- "decreased number of anatomical entity",
- "appendage",
- "Abnormality of the integument",
- "decreased size of the material anatomical entity",
- "sense organ phenotype",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "phenotype",
- "skeletal element phenotype",
- "Abnormal skeletal morphology",
+ "entire sense organ system",
+ "continuant",
+ "anatomical system physiology phenotype",
+ "tissue",
"delayed biological_process",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Abnormality of blood and blood-forming tissues",
- "craniocervical region morphology phenotype",
- "Abnormality of chromosome stability",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "decreased size of the sense organ",
- "endochondral bone",
- "anatomical entity phenotype",
- "multicellular organism phenotype",
- "multicellular anatomical structure",
- "material anatomical entity",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "endochondral element phenotype",
- "subdivision of head",
- "myeloid leukocyte phenotype",
- "autopod region",
- "Neoplasm by anatomical site",
- "anatomical structure",
- "Hematological neoplasm",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of skeleton phenotype",
- "bone of free limb or fin",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "orbital region",
- "digit morphology phenotype",
- "myeloid cell",
- "digit",
+ "manual digit morphology in the manus phenotype",
+ "limb skeleton subdivision",
+ "nervous system phenotype",
+ "increased qualitatively biological_process",
+ "anatomical collection",
+ "All",
+ "decreased length of material anatomical entity",
+ "decreased qualitatively biological_process",
+ "negative regulation of gene expression",
+ "Phenotypic abnormality",
+ "Abnormality of the hand",
+ "decreased size of the multicellular anatomical structure",
+ "decreased qualitatively embryo development",
+ "skeleton phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the organism subdivision",
+ "material anatomical entity",
+ "bone element",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "manual digit 1",
+ "manus phenotype",
+ "paired limb/fin",
+ "specifically dependent continuant",
+ "growth",
+ "Abnormal thumb morphology",
"decreased size of the ectoderm-derived structure",
- "musculature of body phenotype",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "number of leukocyte phenotype",
+ "subdivision of organism along appendicular axis",
+ "multicellular organism development phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "multicellular organismal process phenotype",
+ "manual digitopodium region",
+ "Abnormal eye morphology",
+ "manual digit",
+ "pectoral appendage skeleton",
+ "quality",
+ "decreased length of multicellular anatomical structure",
+ "Growth delay",
+ "Abnormal limb bone morphology",
+ "manus morphology phenotype",
+ "material anatomical entity phenotype",
+ "decreased length of digit 1 or 5",
+ "growth phenotype",
+ "decreased length of autopodial extension",
+ "endochondral bone",
+ "upper limb segment phenotype",
+ "subdivision of skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "face",
+ "anatomical entity morphology phenotype",
+ "Growth abnormality",
"manual digit 1 plus metapodial segment",
- "segment of manus",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "nervous system morphology phenotype",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure",
- "anucleate cell",
- "appendage girdle complex",
- "Abnormal platelet count",
- "Abnormal forebrain morphology",
- "increased biological_process in skin of body",
- "number of platelet phenotype",
- "Abnormality of thrombocytes",
+ "embryo development phenotype",
+ "manual digit 1 or 5",
+ "anatomical system",
+ "delayed growth",
+ "limb endochondral element",
+ "phenotype",
+ "Abnormal cell morphology",
+ "Abnormal appendicular skeleton morphology",
+ "material entity",
+ "Macule",
+ "anatomical collection phenotype",
"limb bone morphology phenotype",
- "digit 1 plus metapodial segment",
- "integumental system phenotype",
- "acropodium region",
- "Abnormal skin morphology",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "Abnormality of the face",
- "manual digit",
- "Abnormality of limbs",
- "skin of body",
- "integumental system",
- "pigmentation phenotype",
- "Hyperpigmentation of the skin",
- "increased pigmentation in skin of body",
+ "autopodial skeleton",
+ "digit 1 or 5",
+ "bone of appendage girdle complex phenotype",
+ "decreased size of the manual digit",
+ "anatomical entity",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased qualitatively anatomical structure development",
+ "arm",
+ "hematopoietic system",
+ "arm phenotype",
+ "multicellular organism",
+ "disconnected anatomical group",
+ "decreased length of anatomical entity",
+ "decreased length of organism subdivision",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "organ system subdivision",
+ "orbital region phenotype",
+ "appendage phenotype",
+ "manual digit 1 morphology phenotype",
+ "endochondral element phenotype",
+ "phenotypic effect",
"size of anatomical entity phenotype",
- "integument phenotype",
- "Abnormality of the skin",
- "regional part of brain",
+ "regulation of gene expression",
+ "autopod region morphology phenotype",
+ "subdivision of head",
+ "decreased length of manual digit 1 or 5",
+ "multi-limb segment region phenotype",
+ "head",
+ "Abnormality of limb bone",
+ "pectoral complex",
+ "size of eyeball of camera-type eye phenotype",
+ "bone element phenotype",
+ "biological_process phenotype",
+ "decreased size of the material anatomical entity",
+ "multicellular anatomical structure",
+ "Abnormal skeletal morphology",
+ "forelimb",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "hematopoietic system phenotype",
"appendicular skeletal system",
- "skin of body phenotype",
- "Multiple cafe-au-lait spots",
- "Hypermelanotic macule",
- "biological_process rate phenotype",
- "Macule",
- "pigmentation",
+ "eye",
+ "paired limb/fin segment",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "decreased anatomical structure development",
+ "digit",
+ "limb endochondral element phenotype",
+ "Hyperpigmentation of the skin",
+ "skeleton of pectoral complex",
"integument",
- "decreased number of material anatomical entity",
- "increased biological_process",
- "eukaryotic cell",
- "increased pigmentation",
- "ectoderm-derived structure phenotype",
- "skeleton",
- "organ phenotype",
+ "decreased length of digit",
+ "aplasia or hypoplasia of anatomical entity",
+ "anatomical entity length phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "skeletal element",
+ "Bone marrow hypocellularity",
+ "Abnormality of limbs",
+ "Abnormality of the eye",
+ "musculoskeletal system",
+ "autopodial extension",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity phenotype",
+ "appendage",
+ "digit plus metapodial segment",
+ "decreased size of the anatomical structure",
"Localized skin lesion",
- "Metazoa",
- "homeostatic process phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "face phenotype",
- "entire sense organ system",
- "eyeball of camera-type eye",
- "subdivision of organism along main body axis phenotype",
+ "Abnormal hand morphology",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased qualitatively developmental process",
+ "regulation of biological process phenotype",
"entity",
- "body proper",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "craniocervical region",
- "size of eyeball of camera-type eye phenotype",
- "sense organ",
- "craniofacial/craniocervical phenotype",
- "Abnormal eye morphology",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "Abnormality of head or neck",
- "skin of body morphology phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "head morphology phenotype",
- "eye",
- "forelimb morphology phenotype",
- "head phenotype",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "Anemia",
- "decreased size of the multicellular anatomical structure",
- "biogenic amine secreting cell",
- "simple eye phenotype",
- "organism subdivision phenotype",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
+ "subdivision of skeletal system",
+ "occurrent",
+ "organ",
+ "appendicular skeleton morphology phenotype",
"decreased size of the organ",
- "neutrophil",
- "orbital region phenotype",
- "structure with developmental contribution from neural crest",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "visual system",
- "decreased size of the eyeball of camera-type eye",
- "lateral structure phenotype",
- "Abnormality of the head",
- "Abnormality of skin pigmentation",
- "bone element phenotype",
+ "skeletal element phenotype",
+ "endochondral bone phenotype",
+ "Postnatal growth retardation",
+ "skeletal system phenotype",
+ "anatomical structure phenotype",
+ "bone of free limb or fin phenotype",
+ "decreased length of manual digit",
+ "limb morphology phenotype",
+ "organ phenotype",
+ "manual digit phenotype",
+ "pigmentation phenotype",
+ "Hypermelanotic macule",
+ "Abnormal finger morphology",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "digit phenotype",
+ "appendage girdle complex",
+ "regulation of gene expression phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "bone cell",
+ "hemolymphoid system",
+ "immune system",
+ "system",
+ "bone marrow cell",
"Abnormality of the upper limb",
- "limb bone phenotype",
+ "limb",
"cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "decreased number of neutrophil",
- "manual digit plus metapodial segment",
- "arm",
- "skeleton of limb phenotype",
- "subdivision of organism along appendicular axis",
- "camera-type eye",
- "pectoral appendage",
- "digit 1 or 5",
- "vision/eye phenotype",
- "bone of appendage girdle complex",
- "camera-type eye phenotype",
- "digit 1 phenotype"
+ "non-connected functional system",
+ "skeletal system morphology phenotype",
+ "cell phenotype",
+ "Abnormal cellular phenotype",
+ "Abnormality of the immune system",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "skeleton",
+ "immune system phenotype",
+ "embryo development",
+ "embryo development rate phenotype",
+ "Short thumb",
+ "Intrauterine growth retardation",
+ "negative regulation of gene expression phenotype",
+ "segment of autopod",
+ "multicellular organism development",
+ "regulation of cellular process phenotype",
+ "anatomical structure development",
+ "biological_process rate phenotype",
+ "decreased qualitatively multicellular organism development",
+ "decreased multicellular organismal process",
+ "developmental process",
+ "anatomical structure development phenotype",
+ "negative regulation of biosynthetic process",
+ "decreased qualitatively multicellular organismal process",
+ "decreased embryo development",
+ "increased pigmentation",
+ "increased biological_process in skin of body",
+ "Cafe-au-lait spot",
+ "Microphthalmia",
+ "Multiple cafe-au-lait spots",
+ "decreased size of the sense organ",
+ "skin of body morphology phenotype"
],
- "has_phenotype_count": 11,
+ "has_phenotype_count": 8,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0044325",
+ "id": "MONDO:0012186",
"category": "biolink:Disease",
- "name": "Fanconi anemia, complementation group W",
+ "name": "Fanconi anemia complementation group I",
"full_name": null,
"deprecated": null,
- "description": null,
+ "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
"xref": [
- "DOID:0060978",
- "MEDGEN:1621245",
- "OMIM:617784",
- "UMLS:C4521564"
+ "DOID:0111091",
+ "GARD:15448",
+ "MEDGEN:323016",
+ "MESH:C563802",
+ "NCIT:C129026",
+ "OMIM:609053",
+ "UMLS:C1836861"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
- "synonym": ["FANCW", "Fanconi anemia, complementation group W"],
+ "synonym": [
+ "FANCI",
+ "Fanconi Anemia, complementation Group 1",
+ "Fanconi Anemia, complementation group type 1",
+ "Fanconi anaemia complementation group type I",
+ "Fanconi anemia complementation group I",
+ "Fanconi anemia complementation group type I",
+ "Fanconi anemia, complementation group I"
+ ],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001875",
+ "HP:0002984",
+ "HP:0002247",
+ "HP:0000543",
+ "HP:0001655",
+ "HP:0000325",
+ "HP:0000545",
+ "HP:0003974",
+ "HP:0001873",
+ "HP:0009778",
+ "HP:0001631",
+ "HP:0001511",
+ "HP:0000405",
+ "HP:0000470",
+ "HP:0009777",
+ "HP:0000483",
+ "HP:0000821",
+ "HP:0002949",
+ "HP:0030048",
+ "HP:0000252",
+ "HP:0000413",
+ "HP:0004325",
+ "HP:0034323",
+ "HP:0000568",
+ "HP:0002308",
+ "HP:0000609",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0000076",
+ "HP:0001643",
+ "HP:0005528",
+ "HP:0030680",
+ "HP:0000957",
+ "HP:0001903",
+ "HP:0001629",
+ "HP:0010034",
+ "HP:0012210",
+ "HP:0012506",
+ "HP:0000085",
+ "HP:0001274",
+ "HP:0004322",
+ "HP:0000089",
+ "HP:0000365",
+ "HP:0001331",
+ "HP:0005528"
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Hypoplasia of the radius",
+ "Duodenal atresia",
+ "Optic disc pallor",
+ "Patent foramen ovale",
+ "Triangular face",
+ "Myopia",
+ "Absent radius",
+ "Thrombocytopenia",
+ "Short thumb",
+ "Atrial septal defect",
+ "Intrauterine growth retardation",
+ "Conductive hearing impairment",
+ "Short neck",
+ "Absent thumb",
+ "Astigmatism",
+ "Hypothyroidism",
+ "Fused cervical vertebrae",
+ "Colpocephaly",
+ "Microcephaly",
+ "Atresia of the external auditory canal",
+ "Decreased body weight",
+ "Reduced circulating growth hormone concentration",
+ "Microphthalmia",
+ "Chiari malformation",
+ "Optic nerve hypoplasia",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Vesicoureteral reflux",
+ "Patent ductus arteriosus",
+ "Bone marrow hypocellularity",
+ "Abnormal cardiovascular system morphology",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Ventricular septal defect",
+ "Short 1st metacarpal",
+ "Abnormal renal morphology",
+ "Small pituitary gland",
+ "Horseshoe kidney",
+ "Agenesis of corpus callosum",
+ "Short stature",
+ "Renal hypoplasia",
+ "Hearing impairment",
+ "Absent septum pellucidum",
+ "Bone marrow hypocellularity"
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0008686",
+ "UBERON:0004714",
+ "UBERON:0000119",
+ "UPHENO:0025363",
+ "UPHENO:0025368",
+ "UPHENO:0009312",
+ "UBERON:0005401",
+ "UBERON:0011300",
+ "HP:0001331",
+ "UPHENO:0026588",
+ "UBERON:0000957",
+ "UBERON:0002020",
+ "UPHENO:0025921",
+ "UPHENO:0026263",
+ "UPHENO:0009136",
+ "UPHENO:0002921",
+ "UPHENO:0025610",
+ "UPHENO:0002564",
+ "UPHENO:0081210",
+ "HP:0008678",
+ "HP:0000002",
+ "UPHENO:0081423",
+ "HP:0004322",
+ "UPHENO:0080351",
+ "UPHENO:0075159",
+ "UPHENO:0087750",
+ "UPHENO:0009064",
+ "UPHENO:0011553",
+ "UBERON:0000454",
+ "HP:0001274",
+ "UPHENO:0026388",
+ "UPHENO:0011576",
+ "UBERON:0003544",
+ "UBERON:0001869",
+ "HP:0033725",
+ "UPHENO:0009056",
+ "UPHENO:0008838",
+ "UPHENO:0011545",
+ "UPHENO:0085804",
+ "UPHENO:0085805",
+ "UPHENO:0008583",
+ "UPHENO:0011580",
+ "UPHENO:0002544",
+ "UPHENO:0002997",
+ "UPHENO:0008678",
+ "UPHENO:0008707",
+ "UPHENO:0087531",
+ "UPHENO:0087902",
+ "UBERON:0002336",
+ "UBERON:0005340",
+ "UBERON:0002473",
+ "UPHENO:0081562",
+ "UPHENO:0087415",
+ "UBERON:0019294",
+ "UPHENO:0011549",
+ "HP:0007370",
+ "UPHENO:0002800",
+ "UPHENO:0008622",
+ "UPHENO:0011557",
+ "UBERON:0002316",
+ "UBERON:0001018",
+ "UPHENO:0025935",
+ "UPHENO:0011515",
+ "UPHENO:0041465",
+ "HP:0000085",
+ "UPHENO:0076941",
+ "HP:0100542",
+ "HP:0000864",
+ "UPHENO:0068879",
+ "UBERON:0005156",
+ "UBERON:0003296",
+ "UPHENO:0069335",
+ "UPHENO:0068967",
+ "HP:0000078",
+ "UPHENO:0069370",
+ "UPHENO:0069190",
+ "UBERON:0000990",
+ "UBERON:0004092",
+ "HP:0012506",
+ "UBERON:0000007",
+ "UPHENO:0011938",
+ "UPHENO:0088065",
+ "UPHENO:0069067",
+ "UPHENO:0086735",
+ "UPHENO:0008598",
+ "HP:0010662",
+ "UPHENO:0002621",
+ "HP:0012503",
+ "UBERON:0003937",
+ "UBERON:0003133",
+ "HP:0010993",
+ "UPHENO:0087940",
+ "UPHENO:0075203",
+ "UPHENO:0004618",
+ "UPHENO:0087516",
+ "UPHENO:0069251",
+ "UPHENO:0087427",
+ "UBERON:0000916",
+ "UBERON:0002113",
+ "UPHENO:0003094",
+ "UPHENO:0002803",
+ "HP:0012210",
+ "UBERON:0005172",
+ "UPHENO:0080168",
+ "UPHENO:0002950",
+ "HP:0010049",
+ "UPHENO:0069538",
+ "UPHENO:0046657",
+ "UPHENO:0046685",
+ "UPHENO:0046408",
+ "UBERON:0015063",
+ "UBERON:0010544",
+ "UBERON:0002437",
+ "UBERON:5102389",
+ "UBERON:0012151",
+ "UPHENO:0002613",
+ "UPHENO:0002640",
+ "HP:0010034",
+ "HP:0005914",
+ "UPHENO:0046762",
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+ "UBERON:0000033",
+ "HP:0000076",
+ "UBERON:0009856",
+ "UBERON:0000477",
+ "UPHENO:0002377"
],
"has_phenotype_closure_label": [
- "Abnormal axial skeleton morphology",
- "Microcephaly",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of skull size",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "cranial skeletal system",
+ "number of anatomical enitites of type tissue phenotype",
+ "absent tissue in the multicellular organism",
+ "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
+ "Abnormal septum pellucidum morphology",
+ "absent septum pellucidum",
+ "lamina",
+ "gray matter",
+ "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
+ "absent lamina",
+ "lamina phenotype",
+ "absent ectoderm-derived structure in the brain ventricle",
+ "absent tissue",
+ "septum pellucidum phenotype",
+ "absent material anatomical entity in the brain ventricle",
+ "absent anatomical entity in the brain ventricle",
+ "gray matter of telencephalon",
+ "Renal hypoplasia",
+ "Renal hypoplasia/aplasia",
"kidney hypoplasia",
- "renal system morphology phenotype",
+ "anatomical entity height phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the multicellular organism",
+ "size of multicellular organism phenotype",
+ "absent brain commissure",
+ "number of anatomical enitites of type axon tract phenotype",
+ "absent corpus callosum",
+ "Thin corpus callosum",
+ "cerebral subcortex",
+ "cerebral hemisphere morphology phenotype",
+ "number of anatomical enitites of type nervous system commissure phenotype",
+ "absent nervous system commissure",
+ "corpus callosum morphology phenotype",
+ "number of anatomical enitites of type intercerebral commissure phenotype",
+ "Aplasia/Hypoplasia of the corpus callosum",
+ "absent ectoderm-derived structure",
+ "number of anatomical enitites of type tract of brain phenotype",
+ "white matter",
+ "number of anatomical enitites of type commissure of telencephalon phenotype",
+ "tract of brain phenotype",
+ "absent anatomical entity in the nervous system",
+ "tract of brain",
+ "nervous system commissure",
+ "Abnormal cerebral white matter morphology",
+ "absent material anatomical entity in the brain",
+ "axon tract phenotype",
+ "commissure of telencephalon phenotype",
+ "absent neuron projection bundle",
+ "absent central nervous system cell part cluster",
+ "absent axon tract",
+ "absent commissure of telencephalon",
+ "Agenesis of corpus callosum",
+ "absent anatomical entity in the brain",
+ "cerebral hemisphere white matter",
+ "absent dorsal telencephalic commissure",
+ "brain commissure phenotype",
+ "Aplasia/Hypoplasia of the cerebral white matter",
+ "absent multi cell part structure",
+ "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
+ "absent anatomical entity in the central nervous system",
+ "white matter of forebrain",
+ "Abnormal corpus callosum morphology",
+ "number of anatomical enitites of type central nervous system cell part cluster phenotype",
+ "commissure of telencephalon",
+ "Abnormal cerebral subcortex morphology",
+ "number of anatomical enitites of type multi cell part structure phenotype",
+ "shape kidney",
+ "3-D shape anatomical entity",
+ "Abnormal localization of kidney",
+ "U-shaped anatomical entity",
+ "Horseshoe kidney",
+ "pituitary gland",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "reproductive gland morphology phenotype",
+ "reproductive structure",
+ "gland of diencephalon",
+ "reproductive system",
+ "hypothalamus-pituitary axis",
+ "decreased size of the gland",
+ "reproductive system phenotype",
+ "decreased size of the reproductive gland",
+ "reproductive organ",
+ "Abnormality of the diencephalon",
+ "reproductive organ phenotype",
+ "decreased size of the reproductive structure",
+ "Abnormal endocrine morphology",
+ "reproductive structure phenotype",
+ "size of pituitary gland phenotype",
+ "diencephalon morphology phenotype",
+ "reproductive system morphology phenotype",
+ "Small pituitary gland",
+ "Abnormality of the genital system",
+ "decreased size of the gland of diencephalon",
+ "Abnormal pituitary gland morphology",
+ "endocrine system morphology phenotype",
+ "reproductive gland phenotype",
+ "decreased size of the pituitary gland",
"kidney",
+ "kidney morphology phenotype",
+ "abdomen element phenotype",
+ "abdomen",
"kidney phenotype",
- "Renal hypoplasia",
- "Abnormality of the urinary system",
+ "axon tract",
+ "decreased size of the autopod endochondral element",
+ "decreased length of manual digit bone",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "decreased size of the phalanx endochondral element",
+ "manual digit bone phenotype",
+ "manual digit phalanx endochondral element phenotype",
+ "cell layer phenotype",
+ "Short phalanx of the thumb",
+ "Abnormal finger phalanx morphology",
+ "Abnormal metacarpal morphology",
+ "phalanx morphology phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "decreased length of limb long bone",
+ "decreased size of the autopod bone",
+ "manus bone phenotype",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "metapodium bone phenotype",
+ "decreased size of the forelimb long bone",
+ "metapodium bone 1",
+ "manual digitopodium bone",
+ "manual digit 1 phalanx",
+ "metapodium region",
+ "Abnormal 1st metacarpal morphology",
+ "phalanx phenotype",
+ "decreased size of the digitopodium bone",
+ "decreased length of manual digitopodium bone",
+ "autopod endochondral element",
+ "metacarpus skeleton",
+ "tissue phenotype",
+ "digit 1 digitopodial skeleton",
+ "skeleton of manual acropodium",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "decreased length of forelimb long bone",
+ "Abnormality of thumb phalanx",
+ "phalanx endochondral element",
+ "autopod bone",
+ "manual digit metacarpus endochondral element",
+ "manual digit 1 digitopodial skeleton",
+ "decreased length of phalanx",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "digitopodium bone phenotype",
+ "phalanx",
+ "digitopodium bone",
+ "manus bone",
+ "metacarpal bone",
+ "manual digit 1 metacarpus endochondral element",
+ "decreased length of metacarpal bone",
+ "manual digit 1 phalanx phenotype",
+ "phalanx endochondral element phenotype",
+ "acropodial skeleton",
+ "metapodium bone 1 phenotype",
+ "skeleton of digitopodium",
+ "individual digit of digitopodial skeleton",
+ "decreased length of manus bone",
+ "aplasia or hypoplasia of metacarpal bone",
+ "incomplete closing of the interventricular septum",
+ "interventricular septum",
+ "interventricular septum morphology phenotype",
+ "manual digit digitopodial skeleton",
+ "cardiac ventricle",
+ "Abnormal cardiac ventricle morphology",
+ "Anemia",
+ "Abnormal erythroid lineage cell morphology",
+ "erythrocyte morphology phenotype",
+ "erythroid lineage cell",
+ "Abnormal skin morphology",
+ "increased biological_process",
+ "Irregular hyperpigmentation",
+ "pigmentation",
+ "Abnormality of skin pigmentation",
+ "Hypermelanotic macule",
+ "Hyperpigmentation of the skin",
+ "skin of body morphology phenotype",
+ "pigmentation phenotype",
+ "Cafe-au-lait spot",
+ "increased biological_process in skin of body",
+ "integumental system",
+ "cerebral hemisphere gray matter",
+ "skin of body",
+ "Bone marrow hypocellularity",
+ "artery morphology phenotype",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the vasculature",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "blood vessel phenotype",
+ "coronary vessel morphology phenotype",
+ "incomplete closing of the vessel",
+ "incomplete closing of the heart blood vessel",
+ "vascular system morphology phenotype",
+ "incomplete closing of the systemic artery",
+ "incomplete closing of the ductus arteriosus",
+ "embryonic cardiovascular system",
+ "anatomical cluster phenotype",
+ "great vessel of heart",
+ "trunk blood vessel phenotype",
+ "vasculature of organ",
+ "vasculature of trunk",
+ "heart blood vessel",
+ "arterial system",
+ "blood vessel",
+ "vessel phenotype",
+ "arterial blood vessel phenotype",
+ "heart vasculature",
+ "blood vasculature",
+ "incomplete closing of the artery",
+ "decreased size of the phalanx",
+ "incomplete closing of the thoracic segment blood vessel",
+ "thoracic segment blood vessel",
+ "conceptus",
+ "vasculature",
+ "coronary vessel",
+ "outflow tract",
+ "Patent ductus arteriosus",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "vasculature phenotype",
+ "decreased length of metapodium bone 1",
+ "ureter",
+ "upper urinary tract",
+ "genitourinary system phenotype",
+ "upper urinary tract phenotype",
+ "mesoderm-derived structure physiology phenotype",
"renal system",
- "compound organ phenotype",
- "Abnormal renal morphology",
- "cavitated compound organ",
- "midface hypoplasia",
- "face",
- "craniocervical region phenotype",
- "craniofacial/craniocervical phenotype",
- "face phenotype",
- "cell",
- "Abnormal cellular phenotype",
- "bone marrow",
- "bone cell",
- "hematopoietic cell",
- "Megakaryocyte dysplasia",
- "cell phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "Abnormal cell morphology",
+ "lower urinary tract",
+ "absent mesoderm-derived structure in the forelimb",
+ "appendage girdle complex",
+ "subdivision of head",
+ "absent bone of appendage girdle complex",
+ "diencephalon phenotype",
+ "Abnormal platelet morphology",
+ "absent organ",
+ "absent anatomical structure in the brain ventricle/choroid plexus",
+ "decreased size of the organ",
+ "absent endochondral element in the forelimb",
+ "absent forelimb bone in the limb",
+ "Vertebral fusion",
+ "absent skeletal element in the limb",
+ "Abnormality of the thyroid gland",
+ "absent anatomical entity in the forelimb",
+ "absent endochondral bone in the limb",
+ "absent anatomical entity in the limb",
+ "Abnormal long bone morphology",
+ "absent mesoderm-derived structure",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent anatomical entity in the brain ventricle/choroid plexus",
+ "absent anatomical structure in the forelimb",
+ "blood vessel morphology phenotype",
+ "absent endochondral element in the limb",
+ "pituitary gland phenotype",
+ "systemic arterial system",
+ "Abnormal cerebral morphology",
+ "Aplasia involving bones of the upper limbs",
+ "decreased length of manual digit phalanx endochondral element",
+ "absent anatomical entity in the skeletal system",
+ "Abnormal cellular physiology",
+ "organ physiology phenotype",
+ "absent material anatomical entity",
"cerebellum morphology phenotype",
- "hindbrain phenotype",
- "formed regional part of brain",
- "segmental subdivision of hindbrain phenotype",
- "organ subunit",
- "malformed anatomical entity",
+ "cerebral hemisphere white matter morphology phenotype",
"Chiari malformation",
- "cerebellum phenotype",
- "Abnormal hindbrain morphology",
- "formed multi-tissue structure",
- "segmental subdivision of nervous system",
- "Cerebellar malformation",
- "Abnormal bone marrow cell morphology",
- "metencephalon morphology phenotype",
- "brain white matter phenotype",
- "brain white matter degeneration",
- "Abnormal periventricular white matter morphology",
- "cerebral hemisphere white matter degeneration",
- "brain white matter morphology phenotype",
- "telencephalon phenotype",
- "multi cell part structure degeneration",
- "white matter of forebrain degeneration",
- "Abnormal cerebral white matter morphology",
- "anatomical entity degeneration",
- "central nervous system cell part cluster degeneration",
- "white matter of telencephalon phenotype",
- "white matter of forebrain",
- "Atrophy/Degeneration affecting the central nervous system",
- "Abnormal cerebral subcortex morphology",
- "white matter of forebrain phenotype",
- "cerebral hemisphere morphology phenotype",
- "white matter",
- "white matter of telencephalon degeneration",
- "anatomical entity degeneration in central nervous system",
- "cerebral hemisphere white matter",
- "cerebral subcortex",
- "white matter degeneration",
- "brain white matter",
- "Abnormal cerebral morphology",
- "Hypopituitarism",
- "decreased nitrogen compound transport",
- "reproductive system morphology phenotype",
- "Abnormal forebrain morphology",
- "decreased qualitatively localization",
- "growth hormone secretion phenotype",
- "bodily fluid",
- "decreased establishment of localization",
- "decreased qualitatively nitrogen compound transport",
- "Abnormal circulating hormone concentration",
- "peptide transport phenotype",
- "gland",
- "genitourinary system",
- "cellular organisms",
- "establishment of localization",
- "Anterior hypopituitarism",
- "gland of diencephalon phenotype",
- "tissue",
- "diencephalon phenotype",
- "decreased qualitatively secretion",
- "decreased qualitatively signal release",
- "Eumetazoa",
- "telencephalon",
- "diencephalon",
- "nitrogen compound transport",
- "structure with developmental contribution from neural crest",
- "reproductive structure phenotype",
- "cellular process phenotype",
- "Abnormal megakaryocyte morphology",
- "Abnormality of the endocrine system",
- "cell communication",
- "Abnormality of the genitourinary system",
- "multi cell part structure phenotype",
+ "cardiac septum morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "agenesis of anatomical entity",
+ "decreased length of endochondral element",
+ "absent limb bone in the limb",
+ "Abnormality of the integument",
+ "cardiac atrium",
+ "absent forelimb bone in the forelimb",
+ "lateral structure physiology phenotype",
+ "decreased size of the structure with developmental contribution from neural crest",
"material anatomical entity physiology phenotype",
- "decreased hormone secretion",
- "root",
- "structure with developmental contribution from neural crest phenotype",
- "amide transport phenotype",
- "decreased secretion in pituitary gland",
- "biological_process in nervous system phenotype",
- "cerebral hemisphere",
- "growth hormone secretion",
- "decreased qualitatively biological_process in central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "chemical entity",
- "organism",
- "localization",
- "cellular process",
- "Abnormal pituitary gland morphology",
- "upper urinary tract",
- "decreased growth hormone secretion",
- "pituitary gland phenotype",
- "reproductive gland phenotype",
+ "absent anatomical structure in the skeletal system",
+ "duodenum",
+ "segment of autopod",
+ "lateral structure phenotype",
+ "decreased size of the manus bone",
+ "absent limb bone in the forelimb",
+ "absent forelimb bone",
+ "neural crest-derived structure, asymmetrically curved phenotype",
"reproductive gland",
- "forebrain",
- "decreased amide transport",
- "decreased qualitatively regulation of biological quality",
- "transport phenotype",
- "localization phenotype",
- "glandular system",
- "Abnormal radial ray morphology",
- "haemolymphatic fluid",
- "transport",
- "peptide secretion phenotype",
- "Abnormal endocrine physiology",
- "anatomical entity hypoplasia in face",
+ "erythrocyte",
+ "anatomical entity physiology phenotype",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "regulation of biological process phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "absent cell layer",
+ "corpus callosum",
+ "subdivision of skeletal system",
+ "decreased length of manual digit 1 phalanx",
+ "absent arm bone in the forelimb",
+ "cardiac atrium morphology phenotype",
+ "circulatory organ",
+ "forelimb long bone phenotype",
+ "cardiac septum phenotype",
+ "interatrial septum",
+ "number of anatomical enitites of type corpus callosum phenotype",
+ "subdivision of head phenotype",
+ "opening of the anatomical entity",
+ "cell phenotype",
+ "incomplete closing of the anatomical structure",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the material anatomical entity",
+ "integument",
+ "subdivision of skeletal system phenotype",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "incomplete closing of the interatrial septum",
+ "Abnormality of body height",
+ "decreased size of the mesoderm-derived structure",
"organism substance",
- "decreased qualitatively biological regulation",
- "gland morphology phenotype",
- "peptide secretion",
- "amide transport",
+ "absent multicellular anatomical structure in the brain ventricle",
+ "gray matter of forebrain",
+ "heart plus pericardium",
+ "septum phenotype",
+ "incomplete closing of the anatomical entity",
+ "absent long bone in the forelimb",
+ "manual digit 1 morphology phenotype",
+ "septum of telencephalon",
+ "cardiovascular system",
+ "septum",
+ "paired limb/fin segment",
+ "Colpocephaly",
+ "anatomical entity morphology in the heart phenotype",
+ "hematopoietic system phenotype",
+ "cranial nerve II morphology phenotype",
+ "Abnormality of head or neck",
+ "Abnormality of the face",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "absent forelimb long bone in the forelimb",
+ "absent anatomical structure in the multicellular organism",
+ "craniofacial/craniocervical phenotype",
+ "serotonin secreting cell",
+ "eyeball of camera-type eye",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "posterior segment of eyeball",
+ "All",
+ "central nervous system",
+ "Abnormality of limb bone",
+ "abdomen element",
+ "homeostatic process phenotype",
+ "regional part of brain",
+ "Abnormal fundus morphology",
+ "Abnormal atrial septum morphology",
+ "decreased length of limb endochondral element",
+ "metencephalon morphology phenotype",
+ "cervical vertebra",
+ "anterior segment of eyeball morphology phenotype",
+ "Abnormal anterior eye segment morphology",
+ "limb phenotype",
+ "cardiovascular system morphology phenotype",
+ "fused anatomical entity and bony vertebral centrum",
+ "axial skeletal system",
+ "subdivision of vertebral column",
+ "absent manual digit",
+ "decreased length of manual digit 1 phalanx endochondral element",
+ "forelimb zeugopod bone",
+ "head phenotype",
+ "nervous system morphology phenotype",
+ "ectoderm-derived structure physiology phenotype",
+ "manual digit 1 or 5",
+ "developmental process",
+ "negative regulation of metabolic process",
+ "Optic disc pallor",
+ "head morphology phenotype",
+ "forelimb skeleton",
"hormone secretion",
- "genitourinary system phenotype",
- "endocrine gland phenotype",
- "decreased hormone transport",
- "Abnormal growth hormone level",
- "signal release phenotype",
- "secretion phenotype",
- "reproductive organ phenotype",
- "blood",
- "Decreased response to growth hormone stimulation test",
- "decreased qualitatively secretion by cell",
- "endocrine system physiology phenotype",
- "endocrine gland morphology phenotype",
+ "Triangular face",
+ "incomplete closing of the blood vessel",
+ "myeloid cell",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "decreased size of the skeletal element",
+ "vertebral element",
+ "camera-type eye morphology phenotype",
+ "sense organ physiology phenotype",
+ "Atrial septal defect",
+ "tunica fibrosa of eyeball",
+ "Morphological central nervous system abnormality",
+ "organ component layer",
+ "body proper",
+ "Abnormal joint morphology",
+ "Abnormal optic disc morphology",
+ "brain ventricle",
+ "regional part of nervous system phenotype",
+ "systemic artery phenotype",
+ "Finger aplasia",
+ "abdominal segment element phenotype",
+ "visual system",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "Abnormality of the nervous system",
+ "head",
+ "decreased size of the endocrine gland",
+ "Metazoa",
+ "Abnormal hand morphology",
+ "cranial neuron projection bundle",
+ "negative regulation of macromolecule biosynthetic process",
"multi-tissue structure",
- "Abnormality of the genital system",
- "skeleton",
- "organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "trunk region element phenotype",
- "bone of free limb or fin phenotype",
- "decreased length of forelimb endochondral element",
- "musculature phenotype",
- "Short long bone",
- "arm bone phenotype",
+ "limb long bone phenotype",
+ "bodily fluid",
+ "simple eye",
+ "face morphology phenotype",
+ "duodenum phenotype",
+ "Abnormal eye morphology",
+ "absent tract of brain",
+ "subdivision of tube phenotype",
+ "closing of the multicellular anatomical structure",
+ "organ system subdivision",
+ "orbital region",
+ "Abnormal intestine morphology",
+ "optic disc",
+ "aplasia or hypoplasia of phalanx of manus",
+ "multicellular anatomical structure atresia",
+ "excretory system",
+ "Abnormal digestive system morphology",
+ "skull phenotype",
+ "decreased system process",
+ "endoderm-derived structure atresia",
+ "absent bone of appendage girdle complex in the forelimb",
+ "pectoral appendage",
+ "absent skeletal element in the forelimb",
+ "regulation of gene expression",
+ "digestive tract",
+ "anatomical system atresia",
+ "Abnormal ureter physiology",
+ "anatomical structure physiology phenotype",
+ "trunk",
+ "retina",
+ "sac phenotype",
"process",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "hindbrain morphology phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "cerebral hemisphere white matter morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of skeletal element",
+ "Gastrointestinal atresia",
+ "tube",
+ "subdivision of digestive tract phenotype",
+ "limb bone",
+ "Fused cervical vertebrae",
+ "Abnormality of the head",
+ "heart",
+ "anatomical conduit",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "anatomical structure morphology in the heart phenotype",
+ "Intestinal atresia",
+ "arm bone",
+ "Abnormal ventricular septum morphology",
+ "closing of the material anatomical entity",
+ "circulatory system",
+ "Abnormal small intestine morphology",
+ "organ part phenotype",
+ "decreased length of autopodial extension",
+ "closing of the anatomical entity",
+ "interatrial septum morphology phenotype",
+ "formed multi-tissue structure",
+ "alimentary part of gastrointestinal system phenotype",
+ "subdivision of organism along main body axis",
+ "Reduced circulating growth hormone concentration",
+ "small intestine morphology phenotype",
+ "multicellular organismal process phenotype",
+ "ureter physiology phenotype",
+ "closing of the anatomical system",
+ "decreased size of the arm bone",
+ "metacarpus region",
+ "formed ectoderm-derived structure",
+ "Abnormality of the digestive system",
+ "intercerebral commissure phenotype",
+ "Abnormality of the upper limb",
+ "alimentary part of gastrointestinal system",
+ "Atresia of the external auditory canal",
+ "duodenum morphology phenotype",
+ "pelvic region of trunk",
+ "alimentary part of gastrointestinal system atresia",
+ "thoracic segment organ",
+ "absent forelimb long bone",
+ "incomplete closing of the coronary vessel",
+ "nervous system process phenotype",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "growth",
+ "absent digit",
+ "absent arm bone",
+ "decreased length of forelimb bone",
"long bone phenotype",
- "paired limb/fin skeleton",
- "metencephalon",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "anatomical entity length phenotype",
- "zeugopod phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Eukaryota",
+ "negative regulation of cellular metabolic process",
+ "limb morphology phenotype",
+ "fused anatomical entity and vertebra",
+ "biological regulation phenotype",
+ "central nervous system cell part cluster",
+ "forebrain morphology phenotype",
+ "decreased length of forelimb endochondral element",
"absent anatomical structure",
- "decreased qualitatively hormone secretion",
- "decreased biological_process in multicellular organism",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "gland phenotype",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased peptide hormone secretion",
- "decreased size of the mesoderm-derived structure",
- "zeugopod",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "signaling",
- "cell-cell signaling",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "organ component layer",
- "mesoderm-derived structure phenotype",
- "decreased qualitatively peptide transport",
- "absent material anatomical entity",
- "Abnormal forearm morphology",
- "increased number of anatomical entity",
- "Absent thumb",
- "decreased qualitatively export from cell",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "decreased size of the endochondral bone",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "limb",
- "decreased qualitatively amide transport",
- "musculature",
- "absent manual digit",
- "spleen",
- "absent organism subdivision",
- "subdivision of skeleton",
- "radius endochondral element",
- "regulation of hormone levels phenotype",
+ "lateral structure",
+ "absent limb long bone in the forelimb",
+ "intestine morphology phenotype",
+ "arm",
+ "number of leukocyte phenotype",
+ "thoracic segment of trunk",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "cellular organisms",
+ "external acoustic meatus phenotype",
+ "Abnormal neutrophil count",
+ "erythroid lineage cell morphology phenotype",
+ "limb segment phenotype",
+ "number of cell phenotype",
+ "compound organ physiology phenotype",
"decreased size of the multicellular anatomical structure",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "decreased qualitatively hormone transport",
- "hemopoietic organ morphology phenotype",
- "upper limb segment phenotype",
- "biological_process in central nervous system phenotype",
- "biological_process phenotype",
- "gland of diencephalon",
- "absent autopodial extension",
- "radius bone morphology phenotype",
- "head phenotype",
- "anatomical entity",
- "paired limb/fin phenotype",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision phenotype",
- "decreased biological_process in pituitary gland",
- "increased number of mesoderm-derived structure",
+ "organism",
+ "irregular bone",
+ "decreased length of bone of pectoral complex",
+ "multicellular organism height phenotype",
+ "forelimb long bone",
+ "Abnormal posterior eye segment morphology",
+ "forelimb morphology phenotype",
+ "Abnormality of the middle ear",
+ "limb segment",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "manual digitopodium region",
+ "decreased length of digit",
+ "hematopoietic cell",
+ "eyeball of camera-type eye phenotype",
+ "decreased length of digit 1 or 5",
+ "regulation of biological quality phenotype",
+ "incomplete closing of the cardiac septum",
+ "Astigmatism",
+ "organ subunit",
+ "anatomical structure",
+ "absent material anatomical entity in the brain ventricle/choroid plexus",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "radius bone hypoplasia",
+ "systemic artery morphology phenotype",
+ "decreased biological_process",
+ "anatomical entity morphology phenotype",
+ "decreased length of endochondral bone",
+ "digestive system",
+ "decreased length of long bone",
+ "curved anatomical entity",
+ "Abnormality of the gastrointestinal tract",
+ "programmed DNA elimination",
+ "arm bone phenotype",
"anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the spleen",
- "decreased size of the long bone",
+ "bone of free limb or fin phenotype",
+ "musculature of body",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "vertebra",
+ "paired limb/fin phenotype",
+ "tissue",
+ "forelimb zeugopod bone morphology phenotype",
+ "concave 3-D shape anatomical entity",
+ "absent bone of free limb or fin in the forelimb",
+ "continuant",
+ "multicellular anatomical structure phenotype",
+ "decreased number of granulocyte",
+ "neutrophil",
+ "Abnormal optic nerve morphology",
+ "decreased size of the forelimb endochondral element",
+ "independent continuant",
+ "Abnormal granulocyte morphology",
+ "subdivision of tube atresia",
+ "absent limb long bone",
+ "digestive system element phenotype",
+ "anatomical entity atresia",
+ "telencephalic ventricle",
+ "Abnormal retinal morphology",
+ "decreased length of material anatomical entity",
+ "sensory perception of mechanical stimulus",
+ "digestive system morphology phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "absent bone of pectoral complex in the limb",
+ "decreased number of myeloid cell",
+ "trunk region element",
+ "decreased size of the manual digit",
+ "endoderm-derived structure",
+ "Abnormal morphology of the great vessels",
+ "pectoral complex",
+ "Short metacarpal",
+ "Abnormality of globe size",
+ "decreased number of hematopoietic cell",
+ "bone element",
+ "leukocyte",
+ "material entity",
+ "long bone",
+ "decreased sensory perception of mechanical stimulus",
+ "negative regulation of biosynthetic process",
+ "decreased multicellular organism development",
+ "hemolymphoid system",
+ "multi-limb segment region phenotype",
+ "absent bone element",
+ "long bone morphology phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "decreased size of the forelimb zeugopod bone",
+ "cellular process",
+ "musculature phenotype",
+ "sense organ",
+ "decreased length of phalanx endochondral element",
+ "absent material anatomical entity in the forelimb",
+ "Neutropenia",
+ "decreased height of the anatomical entity",
"absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "material anatomical entity degeneration",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "white matter of telencephalon",
- "Abnormal diencephalon morphology",
- "lateral structure",
+ "Abnormality of the eye",
+ "hindbrain",
+ "absent bone of appendage girdle complex in the limb",
+ "vertebra phenotype",
+ "renal system morphology phenotype",
+ "cardiac ventricle morphology phenotype",
+ "Abnormal granulocyte count",
+ "organ phenotype",
+ "Forearm undergrowth",
+ "Short 1st metacarpal",
+ "decreased size of the anatomical entity",
+ "sensory perception of sound",
+ "Abnormal forearm bone morphology",
+ "bone of free limb or fin",
+ "main body axis",
+ "myeloid leukocyte phenotype",
+ "increased qualitatively biological_process",
+ "forebrain",
+ "absent radius endochondral element in the forelimb",
+ "radius bone morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "axon tract morphology phenotype",
+ "vascular system",
+ "aplasia or hypoplasia of skeleton",
+ "ocular fundus",
+ "neutrophil phenotype",
+ "organism subdivision",
+ "integument phenotype",
+ "vision/eye phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormal vascular morphology",
+ "Abnormality of skull size",
+ "Phenotypic abnormality",
+ "myeloid leukocyte",
+ "limb endochondral element phenotype",
+ "granulocyte",
+ "cardiac chamber",
+ "eye physiology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "immune system morphology phenotype",
+ "dorsal telencephalic commissure",
"skeletal system phenotype",
- "Growth abnormality",
- "megakaryocyte",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "appendage phenotype",
+ "dorsal telencephalic commissure morphology phenotype",
"digit plus metapodial segment",
- "decreased length of organ",
- "Abnormal small intestine morphology",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "Abnormal spleen morphology",
- "Abnormal skeletal morphology",
+ "blood cell phenotype",
+ "decreased number of leukocyte",
+ "transport",
+ "absent limb bone",
+ "limb endochondral element",
+ "phenotype",
+ "delayed growth",
+ "Abnormal hindbrain morphology",
+ "Abnormal cell morphology",
+ "closing of the ectoderm-derived structure",
+ "simple eye physiology phenotype",
+ "subdivision of digestive tract",
+ "fused skeletal joint and anatomical entity",
+ "number of anatomical enitites of type lamina phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "cell layer",
+ "viscus",
+ "pelvic region element phenotype",
+ "Short forearm",
+ "nitrogen compound transport phenotype",
+ "bone of dorsum",
+ "Abnormality of the skeletal system",
+ "biogenic amine secreting cell",
+ "anatomical conduit atresia",
+ "decreased length of digitopodium bone",
+ "regulation of cellular metabolic process phenotype",
+ "decreased number of cell",
"decreased length of anatomical entity",
- "alimentary part of gastrointestinal system atresia",
- "decreased developmental process",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "number of anatomical enitites of type material anatomical entity phenotype",
"bone of pectoral complex",
- "formed multicellular anatomical structure",
- "decreased biological regulation",
- "increased size of the ventricle of nervous system",
- "digestive system",
- "increased number of abdominal segment element",
- "establishment of localization phenotype",
- "decreased length of bone element",
- "skeletal element phenotype",
- "appendage girdle complex",
- "subdivision of tube",
- "Abnormality of the upper urinary tract",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "secretion by cell",
- "forelimb zeugopod skeleton",
- "digit 1 or 5",
- "forelimb",
- "increased number of abdominal viscera",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "white matter phenotype",
- "segment of manus",
- "organ part",
- "forebrain morphology phenotype",
- "appendicular skeleton",
- "Abnormality of the head",
- "multi cell part structure",
- "Abnormal gastrointestinal tract morphology",
- "anatomical entity morphology in the pectoral complex phenotype",
- "intestine morphology phenotype",
+ "endocrine system",
+ "immune system",
+ "chorioretinal region",
+ "structure with developmental contribution from neural crest phenotype",
+ "material anatomical entity",
+ "nucleate cell",
+ "Abnormal appendicular skeleton morphology",
+ "thyroid gland",
+ "Abnormal myeloid leukocyte morphology",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "absent multicellular anatomical structure",
+ "endochondral bone phenotype",
+ "Abnormality of the ear",
+ "cardiac septum",
+ "Cerebellar malformation",
+ "anucleate cell",
+ "shape of continuant phenotype",
+ "tube phenotype",
+ "Opisthokonta",
+ "eye",
+ "compound organ",
"skeleton of pectoral complex",
- "decreased length of anatomical structure",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "cardiovascular system",
- "midface phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "increased number of hemopoietic organ",
- "closing of the subdivision of digestive tract",
- "Neurodegeneration",
+ "specifically dependent continuant",
+ "decreased length of arm bone",
+ "thoracic cavity element",
+ "retina morphology phenotype",
+ "Thrombocytopenia",
+ "great vessel of heart morphology phenotype",
+ "decreased functionality of the anatomical structure",
+ "anatomical structure mass phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "anatomical entity",
+ "decreased qualitatively biological_process",
+ "ear phenotype",
+ "Abnormality of refraction",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "peptide secretion",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "sensory perception of mechanical stimulus phenotype",
+ "disconnected anatomical group",
+ "multicellular organism",
+ "skeleton",
+ "trunk blood vessel",
+ "absent radius endochondral element",
+ "Eumetazoa",
+ "number of hematopoietic cell phenotype",
+ "face phenotype",
+ "Abnormality of the bladder",
+ "closing of the anatomical structure",
+ "dorsum",
+ "Abnormal leukocyte count",
+ "decreased functionality of the endocrine gland",
+ "Abnormal duodenum morphology",
+ "cavitated compound organ",
+ "incomplete closing of the septum",
+ "motile cell",
+ "metacarpal bone phenotype",
+ "skeletal system",
+ "sensory system",
+ "cervical vertebra phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "multicellular organism morphology phenotype",
+ "Abnormal cellular immune system morphology",
+ "eye phenotype",
+ "urinary bladder physiology phenotype",
+ "urinary bladder phenotype",
+ "absent intercerebral commissure",
+ "system",
+ "regulation of gene expression phenotype",
+ "decreased size of the limb long bone",
+ "Abnormal cardiac atrium morphology",
+ "bone marrow",
+ "fused vertebra and bony vertebral centrum",
+ "Abnormality of the musculoskeletal system",
+ "multi-tissue structure phenotype",
+ "Microcephaly",
+ "regulation of metabolic process phenotype",
+ "decreased number of anatomical structure",
"material anatomical entity atresia",
- "duodenum phenotype",
- "reproductive gland morphology phenotype",
- "brain morphology phenotype",
+ "bone cell",
+ "skeletal system morphology phenotype",
+ "fused cervical vertebra and anatomical entity",
+ "Patent foramen ovale",
+ "heart morphology phenotype",
+ "decreased functionality of the structure with developmental contribution from neural crest",
+ "closing of the subdivision of digestive tract",
+ "negative regulation of biological process phenotype",
+ "granulocyte morphology phenotype",
+ "taxon specific phenotype",
+ "Abnormal renal morphology",
+ "radius endochondral element",
+ "zeugopod",
+ "anatomical system phenotype",
+ "regulation of biosynthetic process phenotype",
+ "skeletal element",
+ "metapodium bone",
+ "Abnormality of limbs",
+ "craniocervical region phenotype",
+ "cornea morphology phenotype",
+ "duodenum atresia",
+ "Localized skin lesion",
+ "musculature",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "decreased number of neutrophil",
+ "digestive system phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormal cellular phenotype",
+ "multi-limb segment region",
+ "ventricle of nervous system",
+ "absent organ in the forelimb",
+ "decreased size of the bone element",
+ "decreased length of autopod bone",
+ "subdivision of digestive tract atresia",
+ "quality",
+ "central nervous system cell part cluster phenotype",
+ "anatomical collection phenotype",
+ "vessel",
+ "decreased size of the sense organ",
+ "anatomical system",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "increased pigmentation",
+ "Abnormal skeletal morphology",
+ "forelimb",
+ "decreased number of anatomical entity",
+ "Abnormal forebrain morphology",
+ "Abnormality of metabolism/homeostasis",
+ "forelimb zeugopod",
+ "forelimb endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "organ system subdivision phenotype",
+ "simple eye phenotype",
+ "growth hormone secretion phenotype",
+ "gland of diencephalon phenotype",
+ "anatomical wall",
+ "decreased length of autopod endochondral element",
+ "absent bone of free limb or fin",
+ "bone of appendage girdle complex",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "decreased length of limb bone",
+ "secretion phenotype",
+ "structure with developmental contribution from neural crest",
+ "Abnormal cerebral ventricle morphology",
+ "formed regional part of brain",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormality of body weight",
+ "mesoderm-derived structure",
+ "absent organ in the multicellular organism",
+ "multicellular organismal process",
+ "blood cell",
+ "Abnormality of the genitourinary system",
+ "Abnormality of the hand",
+ "absent forelimb endochondral element",
"skeleton phenotype",
- "intestine atresia",
- "phenotype",
- "decreased length of forelimb bone",
- "digestive system phenotype",
- "Upper limb undergrowth",
- "quality",
- "Leukoencephalopathy",
- "decreased size of the bone of pectoral complex",
- "increased number of spleen",
- "forelimb morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "number of anatomical enitites of type abdomen element phenotype",
- "anatomical entity phenotype",
- "closing of the material anatomical entity",
- "embryo development phenotype",
- "musculature of body",
- "duodenum morphology phenotype",
- "limb segment",
- "Abnormality of the face",
- "continuant",
- "anatomical conduit",
- "closing of the organ part",
- "manual digit plus metapodial segment",
- "pectoral appendage skeleton",
- "telencephalon morphology phenotype",
- "pituitary gland morphology phenotype",
- "ectoderm-derived structure degeneration",
- "decreased multicellular organismal process",
- "taxon specific phenotype",
- "forelimb phenotype",
- "Abnormal brain morphology",
- "decreased secretion by cell",
- "adenohypophysis phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "limb phenotype",
+ "Hypoplasia of the radius",
+ "decreased size of the digit",
+ "zeugopodial skeleton",
+ "aplasia or hypoplasia of anatomical entity",
+ "limb long bone",
+ "forelimb bone",
+ "absent anatomical structure in the brain ventricle",
+ "camera-type eye",
+ "Abnormality of the orbital region",
+ "decreased length of skeletal element",
+ "absent multicellular anatomical structure in the brain",
+ "absent forelimb endochondral element in the forelimb",
+ "endocrine gland physiology phenotype",
+ "entire sense organ system",
+ "absent bone of pectoral complex",
+ "asymmetrically curved cornea",
+ "Synostosis of joints",
+ "Aplasia involving bones of the extremities",
"nervous system phenotype",
- "formed ectoderm-derived structure",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "material entity",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "organ",
- "brain phenotype",
+ "endocrine gland morphology phenotype",
+ "Macule",
+ "anatomical collection",
+ "cranial nerve II",
+ "regulation of macromolecule metabolic process phenotype",
+ "Aplasia involving forearm bones",
"skeleton of limb",
- "digestive tract",
- "anatomical structure degeneration",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "radius bone hypoplasia",
- "anatomical structure",
- "hemopoietic organ",
- "small intestine",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "digestive system element",
- "formed anatomical structure",
- "All",
- "subdivision of tube phenotype",
- "limb bone",
- "midface morphology phenotype",
- "pectoral complex",
- "Myelodysplasia",
- "alimentary part of gastrointestinal system phenotype",
- "subdivision of digestive tract",
- "body proper",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "brain ventricle/choroid plexus phenotype",
- "increased number of multicellular anatomical structure in the abdomen",
- "multicellular organism phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "decreased length of bone of pectoral complex",
- "hypothalamus-pituitary axis",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "increased number of material anatomical entity in the abdomen",
- "decreased length of material anatomical entity",
- "signal release",
- "decreased size of the forelimb endochondral element",
- "secretion by cell phenotype",
- "subdivision of digestive tract phenotype",
- "tube",
- "regulation of biological quality phenotype",
- "autopodial extension phenotype",
- "musculature of body phenotype",
- "decreased qualitatively regulation of hormone levels",
- "forelimb zeugopod bone hypoplasia",
- "absent material anatomical entity in the limb",
- "Abnormal cerebellum morphology",
- "organ subunit phenotype",
- "export from cell",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "head morphology phenotype",
- "immune system phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "segmental subdivision of nervous system phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "arm",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "increased number of anatomical structure",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased length of long bone",
- "decreased qualitatively biological_process",
- "Abnormal cerebral ventricle morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "tube phenotype",
+ "Abnormality of the urinary system",
"closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "regional part of brain phenotype",
- "biological regulation",
- "anatomical system atresia",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "specifically dependent continuant",
- "closing of the anatomical entity",
- "aplasia or hypoplasia of telencephalon",
- "Abnormal metencephalon morphology",
- "aplasia or hypoplasia of radius bone",
- "Intrauterine growth retardation",
- "brain ventricle/choroid plexus",
- "pituitary gland",
- "decreased size of the skeletal element",
- "duodenum atresia",
- "multicellular organism",
- "embryo development",
- "Abnormality of the digestive system",
- "decreased length of limb endochondral element",
- "Phenotypic abnormality",
- "forelimb long bone",
- "closing of the anatomical system",
- "Abnormal midface morphology",
- "increased number of immune organ",
+ "neck morphology phenotype",
+ "cardiovascular system phenotype",
+ "manual digit phalanx endochondral element",
+ "photoreceptor array",
+ "Abnormality of the immune system",
+ "paired limb/fin skeleton",
+ "Abnormal nervous system physiology",
+ "Short long bone",
+ "decreased length of bone of free limb or fin",
+ "number of anatomical enitites of type brain commissure phenotype",
+ "forelimb endochondral element",
+ "limb bone phenotype",
+ "secretory cell",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "decreased anatomical structure development",
+ "anatomical structure phenotype",
+ "forelimb zeugopod skeleton",
+ "decreased size of the bone of pectoral complex",
+ "formed regional part of nervous system",
+ "Abnormal erythrocyte morphology",
+ "paired limb/fin segment phenotype",
+ "phalanx of manus phenotype",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of anatomical structure",
+ "absent bone element in the forelimb",
+ "ocular surface region morphology phenotype",
+ "white matter of telencephalon",
"decreased size of the limb bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
+ "Abnormal leukocyte morphology",
+ "axial skeleton plus cranial skeleton",
+ "mesoderm-derived structure phenotype",
+ "external ear",
"decreased length of bone of appendage girdle complex",
- "multicellular anatomical structure",
- "long bone morphology phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Midface retrusion",
- "bone element",
- "pectoral appendage",
- "Abnormality of the vasculature",
- "central nervous system cell part cluster",
- "pectoral appendage skeleton phenotype",
- "lymphoid system phenotype",
- "ventricle of nervous system phenotype",
- "closing of the multicellular anatomical structure",
- "skeleton of manus",
- "alimentary part of gastrointestinal system",
- "biological_process rate in brain phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "neoplasm phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "zeugopodial skeleton",
- "Intestinal atresia",
- "anatomical system",
- "nitrogen compound transport phenotype",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "skeletal system morphology phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "cerebral hemisphere white matter phenotype",
- "small intestine phenotype",
- "Duodenal atresia",
- "digestive system element phenotype",
- "organ part phenotype",
- "Abnormal limb bone morphology",
- "Neoplasm by anatomical site",
- "hormone transport",
- "Abnormality of the skeletal system",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "decreased export from cell",
- "immune organ phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "limb bone phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "Hematological neoplasm",
- "postcranial axial skeleton",
- "organ system subdivision",
- "viscus",
- "diencephalon morphology phenotype",
- "decreased size of the bone element",
- "abdominal viscera phenotype",
+ "aplastic forelimb zeugopod bone",
+ "glandular system",
+ "subdivision of trunk",
+ "Abnormal thumb morphology",
+ "fused anatomical entity and anatomical entity",
+ "decreased size of the long bone",
+ "Absent forearm bone",
+ "decreased size of the material anatomical entity",
+ "forelimb zeugopod bone hypoplasia",
+ "Abnormal cerebellum morphology",
+ "anterior region of body",
+ "decreased length of manual digit 1",
"endochondral bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
- "formed regional part of nervous system",
- "spleen phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased length of forelimb zeugopod bone",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "agenesis of anatomical entity",
+ "endochondral element phenotype",
+ "subdivision of skeleton",
+ "autopod bone phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "decreased size of the autopodial extension",
+ "manus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "sensory perception",
+ "phenotypic effect",
+ "size of anatomical entity phenotype",
+ "digestive system element",
+ "decreased length of multicellular anatomical structure",
+ "radius bone phenotype",
+ "decreased length of mesoderm-derived structure",
+ "formed material anatomical entity",
+ "Abnormal upper limb bone morphology",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "Abnormality of the curvature of the cornea",
+ "limb",
+ "material anatomical entity phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal morphology of the radius",
"decreased size of the limb endochondral element",
+ "acropodium region",
+ "signal release phenotype",
+ "anatomical structure atresia",
+ "organ part atresia",
+ "upper limb segment phenotype",
+ "decreased length of bone element",
+ "multi cell part structure",
+ "limb long bone morphology phenotype",
+ "aplasia or hypoplasia of corpus callosum",
+ "anatomical entity length phenotype",
+ "decreased qualitatively multicellular organism development",
+ "digit",
+ "Abnormality of the kidney",
+ "orbital region phenotype",
+ "appendage phenotype",
+ "organism subdivision phenotype",
+ "forelimb bone phenotype",
+ "sense organ phenotype",
+ "localization phenotype",
+ "decreased size of the forelimb bone",
+ "cerebral hemisphere",
+ "bone of pectoral complex phenotype",
+ "phalanx of manus",
+ "number of anatomical enitites of type bone element phenotype",
+ "decreased size of the bone of appendage girdle complex",
"anatomical entity hypoplasia",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of limbs",
+ "endochondral element",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "small intestine phenotype",
+ "appendicular skeletal system",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormality of the cervical spine",
+ "Upper limb undergrowth",
+ "Abnormal immune system morphology",
+ "Abnormality of thrombocytes",
+ "manual digitopodium bone phenotype",
+ "limb skeleton subdivision",
+ "absent material anatomical entity in the skeletal system",
+ "skull",
+ "Abnormal facial shape",
+ "root",
+ "incomplete closing of the trunk blood vessel",
+ "decreased multicellular organismal process",
+ "ectoderm-derived structure atresia",
+ "anatomical entity phenotype",
+ "decreased length of organ",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "appendage",
+ "bone of pectoral complex morphology phenotype",
+ "decreased size of the anatomical structure",
+ "organ",
+ "anatomical entity mass phenotype",
+ "Decreased anatomical entity mass",
+ "entity",
+ "appendicular skeleton morphology phenotype",
+ "bone of appendage girdle complex phenotype",
+ "decreased vibrational conductance of sound to the inner ear",
+ "leukocyte morphology phenotype",
+ "skeletal element phenotype",
+ "fused anatomical entity and skeletal joint",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "absent limb endochondral element",
+ "bone element phenotype",
+ "vestibulo-auditory system",
+ "endoderm-derived structure physiology phenotype",
+ "material anatomical entity morphology in the heart phenotype",
+ "absent limb endochondral element in the limb",
+ "neuron projection bundle",
+ "absent endochondral bone in the forelimb",
+ "absent material anatomical entity in the multicellular organism",
+ "sac",
+ "formed cerebellum",
+ "autopod region phenotype",
+ "absent radius bone in the forelimb",
+ "aplastic anatomical entity",
+ "nitrogen compound transport",
+ "malformed anatomical entity",
+ "absent forelimb endochondral element in the limb",
+ "embryo development rate phenotype",
+ "absent long bone",
+ "absent material anatomical entity in the limb",
+ "absent bone element in the limb",
+ "decreased size of the reproductive organ",
+ "camera-type eye physiology phenotype",
+ "Absent radius",
+ "decreased multicellular anatomical structure mass",
+ "Abnormal size of pituitary gland",
+ "Growth abnormality",
+ "platelet",
+ "pelvic region element",
+ "Abnormal heart morphology",
+ "platelet phenotype",
+ "middle ear",
+ "number of platelet phenotype",
"regulation of biological process",
+ "decreased number of platelet",
+ "absent organ in the limb",
+ "Abnormal platelet count",
+ "Short finger",
+ "negative regulation of metabolic process phenotype",
+ "decreased size of the endochondral bone",
+ "aplasia or hypoplasia of manual digit 1",
+ "anatomical entity morphology in the manus phenotype",
+ "cornea, curved phenotype",
+ "cervical region of vertebral column",
+ "articulation",
+ "autopodial skeleton",
+ "fused vertebra and anatomical entity",
+ "digit 1 or 5",
+ "absent endochondral element",
+ "segmental subdivision of hindbrain",
"manual digit",
- "paired limb/fin skeleton phenotype",
- "skeletal element",
- "musculoskeletal system",
- "Abnormality of the gastrointestinal tract",
- "digestive system morphology phenotype",
- "anatomical structure atresia",
- "skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormality of the hypothalamus-pituitary axis",
- "ventricular system of brain",
- "aplasia or hypoplasia of skeleton",
- "decreased cellular process",
- "subdivision of skeletal system phenotype",
- "midface",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "manual digit 1 plus metapodial segment",
+ "decreased length of organism subdivision",
+ "gland phenotype",
+ "brain white matter morphology phenotype",
+ "decreased size of the organism subdivision",
+ "thyroid gland physiology phenotype",
+ "manus morphology phenotype",
+ "immune system phenotype",
+ "digit phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "skeleton of manus",
+ "segment of manus",
+ "digitopodium region",
+ "manual digit 1",
+ "artery phenotype",
+ "autopodial extension",
+ "Decreased body weight",
+ "metacarpal bone of digit 1 morphology phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "pectoral appendage skeleton",
+ "regulation of metabolic process",
+ "nervous system commissure phenotype",
+ "metacarpal bone of digit 1",
+ "Aplasia/Hypoplasia of fingers",
+ "organic substance transport",
"digit 1",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "absent multicellular anatomical structure in the skeletal system",
+ "decreased length of manual digit",
+ "viscus phenotype",
+ "regional part of nervous system",
+ "closing of the endoderm-derived structure",
+ "Aplasia/Hypoplasia of the thumb",
+ "septum pellucidum",
+ "Aplasia/hypoplasia involving bones of the hand",
"Abnormal digit morphology",
- "bone of pectoral complex phenotype",
- "decreased length of endochondral element",
- "system",
- "lateral structure phenotype",
- "anatomical collection phenotype",
- "arm phenotype",
- "central nervous system cell part cluster phenotype",
- "Neoplasm",
- "increased size of the anatomical entity",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "segmental subdivision of hindbrain",
- "trunk",
- "hemolymphoid system",
- "hematopoietic system",
- "anatomical cluster",
- "regulation of biological quality",
- "Growth delay",
- "biological_process",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "decreased transport",
+ "digit morphology phenotype",
+ "digit 1 or 5 phenotype",
+ "irregular bone phenotype",
+ "autopodial extension phenotype",
+ "vertebral column phenotype",
+ "Abnormality of joint mobility",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "oxygen accumulating cell",
+ "manual digit phenotype",
+ "decreased developmental process",
+ "amide transport",
+ "Short thumb",
+ "absent bone of free limb or fin in the limb",
+ "Abnormal myeloid cell morphology",
+ "segmental subdivision of nervous system",
+ "vertebral column morphology phenotype",
+ "autopod region",
+ "decreased length of manual digit 1 or 5",
+ "arterial blood vessel",
+ "anatomical structure development",
+ "appendicular skeleton",
+ "Short digit",
+ "autopod endochondral element phenotype",
+ "autopod region morphology phenotype",
+ "decreased length of digit 1",
+ "material anatomical entity, curved phenotype",
+ "endocrine gland phenotype",
+ "Absent septum pellucidum",
+ "embryo development phenotype",
+ "Abnormality of the ureter",
+ "systemic artery",
"delayed biological_process",
+ "brain gray matter",
+ "embryo development",
"hypothalamus-pituitary axis phenotype",
- "decreased length of endochondral bone",
- "decreased qualitatively establishment of localization",
- "Short forearm",
+ "decreased functionality of the gland",
+ "decreased qualitatively developmental process",
+ "decreased functionality of the multicellular anatomical structure",
+ "Intrauterine growth retardation",
+ "absent multicellular anatomical structure in the forelimb",
+ "neuron projection bundle phenotype",
+ "decreased qualitatively embryo development",
+ "metacarpal bone morphology phenotype",
+ "Abnormal ear physiology",
+ "decreased qualitatively anatomical structure development",
+ "Growth delay",
+ "multicellular organism development",
+ "developmental process phenotype",
+ "external acoustic meatus atresia",
+ "radius bone",
"growth phenotype",
- "delayed growth",
- "subdivision of head",
- "developmental process rate phenotype",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased qualitatively multicellular organismal process",
- "Aplasia/Hypoplasia of the cerebrum",
- "decreased multicellular organism development",
- "decreased biological_process",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "Abnormality of the endocrine system",
+ "occurrent",
+ "middle ear phenotype",
+ "Myopia",
"anatomical structure development phenotype",
- "multicellular organismal process",
- "hindbrain",
- "secretion",
- "developmental process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
+ "Abnormality of the skin",
"biological_process rate phenotype",
- "multicellular organismal process phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organism development phenotype",
+ "absent anatomical structure in the limb",
+ "decreased qualitatively multicellular organismal process",
+ "Hearing impairment",
+ "limb bone morphology phenotype",
+ "nervous system process",
+ "number of myeloid cell phenotype",
+ "ear morphology phenotype",
+ "multi organ part structure physiology phenotype",
+ "decreased qualitatively nervous system process",
+ "digit 1 phenotype",
+ "multi organ part structure",
+ "face",
+ "decreased functionality of the thyroid gland",
+ "ear physiology phenotype",
+ "multi organ part structure phenotype",
+ "Conductive hearing impairment",
+ "middle ear physiology phenotype",
+ "system process",
+ "sensory perception phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "decreased length of phalanx of manus",
+ "decreased qualitatively system process",
+ "decreased sensory perception of sound",
+ "nervous system",
+ "anatomical system physiology phenotype",
+ "Abnormal ear morphology",
+ "incomplete closing of the anatomical conduit",
+ "Abnormal finger morphology",
+ "absent organism subdivision in the multicellular organism",
+ "ductus arteriosus",
+ "sensory perception of sound phenotype",
+ "system process phenotype",
+ "decreased nervous system process",
+ "subdivision of organism along main body axis phenotype",
+ "cervical vertebra endochondral element phenotype",
+ "subdivision of tube",
+ "establishment of localization",
+ "cell-cell signaling",
+ "increased pigmentation in skin of body",
+ "ductus arteriosus morphology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "manual digit bone",
+ "decreased sensory perception",
+ "developmental process rate phenotype",
+ "closing of the anatomical conduit",
+ "Functional abnormality of the bladder",
+ "ear",
+ "gland morphology phenotype",
+ "neck bone phenotype",
+ "metapodial skeleton",
+ "negative regulation of cellular biosynthetic process",
+ "haemolymphatic fluid",
+ "bone of dorsum phenotype",
+ "dorsal part of neck",
+ "Short stature",
+ "Abnormality of the vertebral column",
+ "postcranial axial skeleton",
+ "protein-containing material entity",
+ "Abnormal neck morphology",
+ "optic disc morphology phenotype",
+ "negative regulation of gene expression",
+ "dorsal region element phenotype",
+ "neck phenotype",
+ "Abnormality of the neck",
+ "trunk or cervical vertebra",
"Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "formed material anatomical entity",
- "Abnormal response to endocrine stimulation test",
- "decreased qualitatively embryo development",
- "decreased qualitatively multicellular organism development",
- "decreased secretion",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormal endocrine morphology",
- "decreased embryo development",
- "increased number of viscus",
- "intestine phenotype",
- "increased number of organ",
- "decreased anatomical structure development",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "excretory system",
- "cerebellum",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "reproductive system",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "decreased qualitatively developmental process",
- "organism subdivision",
+ "dorsal region element",
+ "Abnormal limb bone morphology",
+ "decreased length of neck",
"central nervous system morphology phenotype",
- "increased size of the brain ventricle",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "decreased length of limb bone",
- "decreased localization",
- "ventricle of nervous system",
- "central nervous system",
- "decreased qualitatively transport",
+ "cervical vertebra endochondral element",
+ "cervical region",
+ "Abnormal axial skeleton morphology",
+ "vertebral column",
+ "postcranial axial skeletal system",
+ "vibrational conductance of sound to the inner ear",
+ "bladder organ physiology phenotype",
+ "neck",
+ "vertebral element phenotype",
+ "aplastic manual digit 1",
+ "absent organism subdivision",
+ "diencephalon",
+ "absent autopodial extension",
+ "organ part",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "U-shaped kidney",
+ "skeleton of manual digitopodium",
+ "Absent thumb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "shape anatomical entity",
+ "ventricular system of brain",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "renal pelvis/ureter",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "primary circulatory organ",
+ "ectoderm-derived structure, curved phenotype",
+ "cornea",
+ "anterior segment of eyeball",
+ "shape cornea",
+ "Abnormal eye physiology",
+ "multicellular organism development phenotype",
+ "asymmetrically curved anatomical entity",
+ "curvature anatomical entity",
+ "manual digit morphology in the manus phenotype",
+ "neural crest-derived structure phenotype",
+ "fused vertebra and vertebra",
+ "neural crest-derived structure, curved phenotype",
+ "neck bone",
+ "intestine atresia",
"ventricular system of central nervous system",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "Abnormality of the lymphatic system",
- "Abnormality of the anterior pituitary",
- "anatomical wall phenotype",
- "increased size of the anatomical structure",
- "anatomical collection",
- "increased size of the organ part",
- "Polysplenia",
- "subdivision of head phenotype",
+ "cornea phenotype",
+ "Decreased head circumference",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "anatomical structure, asymmetrically curved phenotype",
+ "ocular surface region",
+ "brain morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "anatomical structure, curved phenotype",
+ "Hypothyroidism",
+ "interatrial septum perforation",
+ "craniocervical region",
+ "endocrine system phenotype",
+ "decreased functionality of the anatomical entity",
+ "decreased functionality of the material anatomical entity",
+ "Abnormality of thyroid physiology",
+ "decreased functionality of the endoderm-derived structure",
+ "Abnormal cornea morphology",
+ "gland",
+ "decreased functionality of the organ",
+ "thyroid gland phenotype",
+ "gland physiology phenotype",
+ "decreased size of the endochondral element",
+ "endocrine gland",
+ "absent radius bone",
+ "cranial skeletal system",
+ "anatomical entity dysfunction in independent continuant",
+ "Duodenal atresia",
+ "Abnormality of chromosome stability",
+ "cervical vertebra morphology phenotype",
+ "axial skeleton plus cranial skeleton morphology phenotype",
+ "neural crest-derived structure",
+ "dorsal part of neck morphology phenotype",
+ "skeletal joint",
+ "articulation phenotype",
+ "Abnormal joint physiology",
+ "decreased length of manual digit 1 metacarpus endochondral element",
+ "number of anatomical enitites of type organ phenotype",
+ "fused skeletal joint and skeletal joint",
+ "vertebra morphology phenotype",
+ "Abnormal vertebral morphology",
+ "decreased number of material anatomical entity",
+ "articular system",
+ "negative regulation of biological process",
+ "fused anatomical entity and cervical vertebra",
+ "Abnormal musculoskeletal physiology",
+ "skeletal joint phenotype",
+ "skeletal joint morphology phenotype",
+ "absent forelimb zeugopod bone",
+ "Vertebral segmentation defect",
+ "decreased embryo development",
+ "musculoskeletal system phenotype",
+ "endoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus",
+ "brain commissure",
+ "peptide transport",
+ "aplasia or hypoplasia of radius bone",
+ "musculoskeletal system physiology phenotype",
+ "metencephalon",
+ "fused cervical vertebra and cervical vertebra",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased qualitatively sensory perception",
+ "telencephalon morphology phenotype",
"brain ventricle morphology phenotype",
- "increased size of the brain ventricle/choroid plexus",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "decreased size of the forelimb bone",
- "main body axis",
- "anatomical wall",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "brain white matter",
+ "negative regulation of cellular process phenotype",
+ "Abnormal lateral ventricle morphology",
+ "telencephalon",
+ "telencephalic ventricle morphology phenotype",
+ "brain",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "eukaryotic cell",
+ "Abnormal brain morphology",
+ "decreased length of manual digit metacarpus endochondral element",
+ "artery",
+ "telencephalon phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "size of skull phenotype",
+ "regional part of brain phenotype",
+ "intercerebral commissure",
+ "Abnormal skull morphology",
+ "pituitary gland morphology phenotype",
+ "skull morphology phenotype",
+ "Abnormality of the outer ear",
+ "obsolete cell",
+ "urinary bladder",
+ "material anatomical entity mass phenotype",
+ "bladder organ phenotype",
+ "external acoustic meatus morphology phenotype",
+ "number of anatomical enitites of type neuron projection bundle phenotype",
"Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "increased size of the material anatomical entity",
- "Abnormal nervous system morphology",
- "increased size of the multicellular anatomical structure",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "ectoderm-derived structure",
- "brain ventricle phenotype",
- "absent anatomical structure in the limb",
+ "external ear phenotype",
+ "intestine phenotype",
+ "Abnormal auditory canal morphology",
+ "Aplasia/hypoplasia of the extremities",
+ "external ear morphology phenotype",
+ "anatomical conduit phenotype",
+ "intestine",
+ "Decreased multicellular organism mass",
+ "incomplete closing of the arterial blood vessel",
+ "decreased material anatomical entity mass",
+ "transport phenotype",
+ "bone marrow cell",
+ "biological_process phenotype",
+ "upper limb segment",
+ "biological_process",
+ "multicellular organism phenotype",
+ "cellular process phenotype",
+ "forelimb zeugopod bone phenotype",
+ "decreased anatomical structure mass",
+ "aplasia or hypoplasia of manual digit",
+ "multicellular anatomical structure mass phenotype",
+ "multicellular organism mass phenotype",
+ "regulation of hormone levels",
+ "anatomical entity perforation",
+ "signaling",
+ "aplasia or hypoplasia of cranial nerve II",
+ "cavitated compound organ physiology phenotype",
+ "absent endochondral bone",
+ "signal release",
+ "growth hormone secretion",
+ "camera-type eye phenotype",
+ "peptide transport phenotype",
+ "secretion by cell phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "Abnormal growth hormone level",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "regulation of biological quality",
+ "Abnormality of neutrophils",
+ "secretion by cell",
+ "absent ectoderm-derived structure in the brain",
+ "peptide secretion phenotype",
+ "export from cell phenotype",
+ "trunk or cervical vertebra phenotype",
+ "chemical entity",
+ "biological regulation",
+ "Global developmental delay",
+ "abdominal segment of trunk",
+ "Aplasia/Hypoplasia of the optic nerve",
+ "localization",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "manus phenotype",
"peptide hormone secretion",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "nervous system",
- "increased size of the organ component layer",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "organ component layer phenotype",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "head",
- "digit",
- "acropodium region",
+ "regulation of hormone levels phenotype",
+ "amide transport phenotype",
+ "establishment of localization phenotype",
+ "Abnormality of the lower urinary tract",
+ "Abnormal circulating hormone concentration",
+ "Abnormal forearm morphology",
+ "posterior segment of eyeball morphology phenotype",
+ "export from cell",
+ "cell communication",
+ "hormone transport",
+ "Ventricular septal defect",
+ "small intestine",
+ "secretion",
+ "size of eyeball of camera-type eye phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Aplasia/Hypoplasia affecting the eye",
+ "blood",
+ "anatomical cluster",
+ "absent anatomical entity in the multicellular organism",
+ "Microphthalmia",
"absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Aplasia/Hypoplasia of fingers",
- "aplastic manual digit 1",
- "manual digit 1 plus metapodial segment",
- "absent multicellular anatomical structure",
- "digit 1 phenotype",
- "endochondral element",
- "lymphatic part of lymphoid system",
- "myeloid cell",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "megakaryocyte morphology phenotype",
- "viscus phenotype",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "endocrine system morphology phenotype",
- "immune organ",
- "Abnormal hand morphology",
- "limb endochondral element phenotype",
- "size of brain ventricle phenotype",
- "digit morphology phenotype",
- "formed cerebellum",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "absent material anatomical entity in the multicellular organism",
- "autopod region morphology phenotype",
- "skull",
- "Abnormality of the hand",
+ "decreased size of the eyeball of camera-type eye",
+ "absent skeletal element",
+ "Hearing abnormality",
+ "Abnormal metencephalon morphology",
+ "decreased length of metapodium bone",
+ "closing of the organ part",
+ "anatomical entity morphology in the brain phenotype",
+ "formed multicellular anatomical structure",
+ "formed anatomical structure",
+ "absent anatomical structure in the brain",
+ "hindbrain morphology phenotype",
+ "Abnormal nervous system morphology",
+ "cerebellum",
+ "external acoustic meatus",
+ "cerebellum phenotype",
+ "brain commissure morphology phenotype",
+ "cranial nerve II phenotype",
+ "Aplasia/Hypoplasia affecting the fundus",
+ "Optic nerve hypoplasia",
+ "multi cell part structure phenotype",
+ "cranial nerve II hypoplasia",
+ "Functional abnormality of the middle ear",
+ "nervous system physiology phenotype",
+ "Neurodevelopmental abnormality",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure physiology phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular process",
+ "programmed DNA elimination by chromosome breakage",
+ "negative regulation of gene expression phenotype",
+ "regulation of cellular process phenotype",
+ "homeostatic process",
+ "paired limb/fin",
+ "Chromosome breakage",
+ "trunk region element phenotype",
+ "absent limb endochondral element in the forelimb",
+ "regulation of cellular biosynthetic process",
+ "Abnormal cardiac septum morphology",
+ "metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "negative regulation of cellular process",
+ "arm phenotype",
+ "regulation of cellular metabolic process",
+ "ectoderm-derived structure phenotype",
+ "regulation of biosynthetic process",
+ "Chromosomal breakage induced by crosslinking agents",
+ "regulation of macromolecule metabolic process",
+ "trunk region element physiology phenotype",
+ "bladder organ",
"renal/urinary system phenotype",
- "autopod region phenotype",
- "decreased regulation of hormone levels",
- "manus phenotype",
- "lymphoid system",
- "absent material anatomical entity in the forelimb",
- "Ventriculomegaly",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "absent digit",
- "endocrine gland",
- "decreased regulation of biological quality",
- "aplastic anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "increased number of multicellular anatomical structure",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent anatomical entity in the multicellular organism",
- "hematopoietic system morphology phenotype",
- "abdominal segment of trunk",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "endocrine system",
- "decreased size of the arm bone",
- "abdominal viscera",
+ "Abnormality of the upper urinary tract",
+ "sac physiology phenotype",
"renal system phenotype",
- "decreased peptide transport",
- "anatomical cluster phenotype",
- "duodenum",
- "trunk region element",
- "number of anatomical enitites of type organ phenotype",
- "adenohypophysis",
- "abdomen element phenotype",
- "disconnected anatomical group",
- "segment of autopod",
- "increased number of abdomen element",
- "immune system",
- "forelimb long bone phenotype",
- "number of anatomical enitites of type hemopoietic organ phenotype",
- "increased number of trunk region element",
- "increased number of material anatomical entity",
- "export from cell phenotype",
- "decreased qualitatively anatomical structure development",
- "Supernumerary spleens",
- "anterior region of body",
- "number of anatomical enitites of type immune organ phenotype",
- "cardiovascular system phenotype",
- "Abnormality of the abdominal organs",
- "decreased length of bone of free limb or fin",
- "vasculature phenotype",
- "appendicular skeleton phenotype",
- "spleen morphology phenotype",
- "subdivision of organism along main body axis",
- "face morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "abdominal segment element phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "decreased qualitatively cellular process",
+ "decreased length of metacarpal bone of digit 1",
+ "Abnormal cardiovascular system morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "cavitated compound organ phenotype",
+ "viscus physiology phenotype",
+ "multicellular anatomical structure",
+ "hematopoietic system",
+ "ureter phenotype",
+ "Vesicoureteral reflux",
+ "compound organ phenotype",
+ "excretory tube phenotype",
"non-connected functional system",
- "skeleton of limb phenotype",
- "vascular system",
- "subdivision of tube atresia",
- "circulatory system",
- "Opisthokonta",
- "increased number of anatomical entity in the abdomen",
+ "lower urinary tract phenotype",
+ "musculoskeletal system",
+ "Short neck",
+ "abdominal segment element",
+ "manual digit 1 phalanx endochondral element",
+ "excretory tube",
"Limb undergrowth",
- "number of anatomical enitites of type viscus phenotype",
- "lymphatic part of lymphoid system phenotype",
- "Eukaryota",
- "anatomical system phenotype",
- "increased number of anatomical structure in the abdomen",
- "hemopoietic organ phenotype",
- "trunk phenotype",
- "decreased signal release",
- "reproductive structure",
- "long bone",
- "decreased biological_process in brain",
- "decreased peptide secretion"
+ "genitourinary system"
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 44,
"highlight": null,
"score": null
}
diff --git a/frontend/src/api/model.ts b/frontend/src/api/model.ts
index ce1ab313d..93533c67b 100644
--- a/frontend/src/api/model.ts
+++ b/frontend/src/api/model.ts
@@ -180,6 +180,10 @@ export interface Association {
qualifiers_namespace?: string,
/** The category of the frequency_qualifier entity */
qualifiers_category?: string,
+ /** Field containing frequency_qualifier id and the ids of all of it's ancestors */
+ qualifiers_closure?: string[],
+ /** Field containing frequency_qualifier name and the names of all of it's ancestors */
+ qualifiers_closure_label?: string[],
qualifier?: string[],
/** The name of the frequency_qualifier entity */
qualifier_label?: string,
@@ -187,30 +191,50 @@ export interface Association {
qualifier_namespace?: string,
/** The category of the frequency_qualifier entity */
qualifier_category?: string,
+ /** Field containing frequency_qualifier id and the ids of all of it's ancestors */
+ qualifier_closure?: string[],
+ /** Field containing frequency_qualifier name and the names of all of it's ancestors */
+ qualifier_closure_label?: string[],
/** The name of the frequency_qualifier entity */
frequency_qualifier_label?: string,
/** The namespace/prefix of the frequency_qualifier entity */
frequency_qualifier_namespace?: string,
/** The category of the frequency_qualifier entity */
frequency_qualifier_category?: string,
+ /** Field containing frequency_qualifier id and the ids of all of it's ancestors */
+ frequency_qualifier_closure?: string[],
+ /** Field containing frequency_qualifier name and the names of all of it's ancestors */
+ frequency_qualifier_closure_label?: string[],
/** The name of the onset_qualifier entity */
onset_qualifier_label?: string,
/** The namespace/prefix of the onset_qualifier entity */
onset_qualifier_namespace?: string,
/** The category of the onset_qualifier entity */
onset_qualifier_category?: string,
+ /** Field containing onset_qualifier id and the ids of all of it's ancestors */
+ onset_qualifier_closure?: string[],
+ /** Field containing onset_qualifier name and the names of all of it's ancestors */
+ onset_qualifier_closure_label?: string[],
/** The name of the sex_qualifier entity */
sex_qualifier_label?: string,
/** The namespace/prefix of the sex_qualifier entity */
sex_qualifier_namespace?: string,
/** The category of the sex_qualifier entity */
sex_qualifier_category?: string,
+ /** Field containing sex_qualifier id and the ids of all of it's ancestors */
+ sex_qualifier_closure?: string[],
+ /** Field containing sex_qualifier name and the names of all of it's ancestors */
+ sex_qualifier_closure_label?: string[],
/** The name of the stage_qualifier entity */
stage_qualifier_label?: string,
/** The namespace/prefix of the stage_qualifier entity */
stage_qualifier_namespace?: string,
/** The category of the stage_qualifier entity */
stage_qualifier_category?: string,
+ /** Field containing stage_qualifier id and the ids of all of it's ancestors */
+ stage_qualifier_closure?: string[],
+ /** Field containing stage_qualifier name and the names of all of it's ancestors */
+ stage_qualifier_closure_label?: string[],
/** A context qualifier representing a disease or condition in which a relationship expressed in an association took place. */
disease_context_qualifier?: string,
/** The name of the disease_context_qualifier entity */
@@ -223,14 +247,6 @@ export interface Association {
disease_context_qualifier_closure?: string[],
/** Field containing disease_context_qualifier name and the names of all of it's ancestors */
disease_context_qualifier_closure_label?: string[],
- /** A context qualifier representing a species in which a relationship expressed in an association took place. */
- species_context_qualifier?: string,
- /** The name of the species_context_qualifier entity */
- species_context_qualifier_label?: string,
- /** The namespace/prefix of the species_context_qualifier entity */
- species_context_qualifier_namespace?: string,
- /** The category of the species_context_qualifier entity */
- species_context_qualifier_category?: string,
}
@@ -253,10 +269,6 @@ export interface AssociationCountList {
export interface AssociationResults extends Results {
/** A collection of items, with the type to be overriden by slot_usage */
items: Association[],
- /** Collection of facet field responses with the field values and counts */
- facet_fields?: FacetField[],
- /** Collection of facet query responses with the query string values and counts */
- facet_queries?: FacetValue[],
}
@@ -278,10 +290,6 @@ export interface CompactAssociation {
export interface CompactAssociationResults extends Results {
/** A collection of items, with the type to be overriden by slot_usage */
items: CompactAssociation[],
- /** Collection of facet field responses with the field values and counts */
- facet_fields?: FacetField[],
- /** Collection of facet query responses with the query string values and counts */
- facet_queries?: FacetValue[],
}
@@ -289,10 +297,6 @@ export interface CompactAssociationResults extends Results {
export interface AssociationTableResults extends Results {
/** A collection of items, with the type to be overriden by slot_usage */
items: DirectionalAssociation[],
- /** Collection of facet field responses with the field values and counts */
- facet_fields?: FacetField[],
- /** Collection of facet query responses with the query string values and counts */
- facet_queries?: FacetValue[],
}
diff --git a/frontend/src/components/AppNodeBadge.vue b/frontend/src/components/AppNodeBadge.vue
index 4f210f4e2..449167e67 100644
--- a/frontend/src/components/AppNodeBadge.vue
+++ b/frontend/src/components/AppNodeBadge.vue
@@ -18,13 +18,10 @@
? { breadcrumbs: [...currentBreadcrumbs, ...breadcrumbs] }
: state || undefined
"
- >
-
-
+ v-html="name"
+ >
-
-
-
+
({{ info }})
@@ -34,7 +31,6 @@
import { computed } from "vue";
import { getCategoryIcon, getCategoryLabel } from "@/api/categories";
import type { Node } from "@/api/model";
-import AppNodeText from "@/components/AppNodeText.vue";
import { breadcrumbs as currentBreadcrumbs } from "@/global/breadcrumbs";
import type { Breadcrumb } from "@/global/breadcrumbs";
diff --git a/frontend/src/components/AppNodeText.vue b/frontend/src/components/AppNodeText.vue
deleted file mode 100644
index a5980315c..000000000
--- a/frontend/src/components/AppNodeText.vue
+++ /dev/null
@@ -1,228 +0,0 @@
-
-
-
-
- {{ text }}
-
-
- {{ text }}
-
-
-
-
-
-
diff --git a/frontend/src/components/AppSection.vue b/frontend/src/components/AppSection.vue
index e8ace5e1c..cfb78c62e 100644
--- a/frontend/src/components/AppSection.vue
+++ b/frontend/src/components/AppSection.vue
@@ -55,17 +55,30 @@ defineSlots();
padding: 30px 20px;
}
+ &.node {
+ margin: 10px 20px 10px $toc-width + 20px !important;
+ }
&.inset {
padding: 30px 20px;
box-shadow: 0 0 10px rgba(0, 0, 0, 0.1);
}
+ &.left {
+ margin: 10px 20px;
+ }
+
&.medium {
- padding: 30px max(20px, calc((100% - $section) / 2));
+ &.center {
+ padding: 30px max(20px, calc((100% - $section) / 2));
+ }
+ &.left {
+ padding: 5px 15px;
+ }
}
&.big {
- padding: 30px max(20px, calc((100% - $section-big) / 2));
+ padding: 30px 20px;
+ //padding: 30px max(20px, calc((100% - $section-big) / 2));
}
&.normal {
diff --git a/frontend/src/components/ThePhenogrid.vue b/frontend/src/components/ThePhenogrid.vue
index ed3d3177d..eeb84e2f7 100644
--- a/frontend/src/components/ThePhenogrid.vue
+++ b/frontend/src/components/ThePhenogrid.vue
@@ -18,7 +18,7 @@
-